#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CCDC74A	90557	broad.mit.edu	37	2	132287226	132287226	+	Missense_Mutation	SNP	A	A	G	rs147307685	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:132287226A>G	ENST00000295171.6	+	2	395	c.257A>G	c.(256-258)cAt>cGt	p.H86R	CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000467992.2_5'Flank|CCDC74A_ENST00000409856.3_Missense_Mutation_p.H86R	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	86										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCAGATCTCCATTACAAGCTC	0.532													N|||	3	0.000599042	0.0023	0.0	5008	,	,		21256	0.0		0.0	False		,,,				2504	0.0					ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(256-258)cAt>cGt		coiled-coil domain containing 74A							157.0	140.0	146.0					2																	132287226		2203	4300	6503	SO:0001583	missense	90557							g.chr2:132287226A>G		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.257A>G	2.37:g.132287226A>G	ENSP00000295171:p.His86Arg					CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.H86R	p.H86R	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			2	395	+			86					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.257A>G	CCDS2167.1	24	0.01098901098901099	4	0.008130081300813009	1	0.0027624309392265192	2	0.0034965034965034965	17	0.022427440633245383	.	3.455	-0.111147	0.06881	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330	T;T;T	0.47869	1.0;1.0;0.83	2.88	1.67	0.24075	.	0.464979	0.17654	N	0.166572	T	0.23451	0.0567	M	0.64997	1.995	0.80722	D	1	B;B	0.20550	0.046;0.014	B;B	0.15484	0.013;0.006	T	0.09271	-1.0682	10	0.40728	T	0.16	-0.015	5.1254	0.14882	0.8465:0.0:0.1535:0.0	.	86;86	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	R	86;86;81	ENSP00000295171:H86R;ENSP00000387009:H86R;ENSP00000406839:H81R	ENSP00000295171:H86R	H	+	2	0	CCDC74A	132003696	0.988000	0.35896	0.818000	0.32626	0.224000	0.24922	2.849000	0.48286	0.164000	0.19529	-1.211000	0.01629	CAT		0.532	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		3	56	0	0	0	1	0	3	56				
YRDC	79693	broad.mit.edu	37	1	38272777	38272777	+	Missense_Mutation	SNP	G	G	A	rs549342179		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:38272777G>A	ENST00000373044.2	-	2	504	c.500C>T	c.(499-501)aCg>aTg	p.T167M	C1orf122_ENST00000373043.1_5'UTR|C1orf122_ENST00000373042.4_5'Flank|C1orf122_ENST00000468084.1_5'Flank|C1orf122_ENST00000446260.2_5'Flank	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	167	YrdC-like. {ECO:0000255|PROSITE- ProRule:PRU00518}.				negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTCACAGGCGTAAAAGGGTT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		20218	0.0		0.0	False		,,,				2504	0.001					ENST00000373044.2																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(499-501)aCg>aTg		yrdC N(6)-threonylcarbamoyltransferase domain containing							97.0	97.0	97.0					1																	38272777		2203	4300	6503	SO:0001583	missense	79693				negative regulation of transport	membrane|mitochondrion		g.chr1:38272777G>A		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"""ischemia/reperfusion inducible protein"""	612276	"""yrdC domain containing (E.coli)"", ""yrdC domain containing (E. coli)"""			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.500C>T	1.37:g.38272777G>A	ENSP00000362135:p.Thr167Met					C1orf122_ENST00000373043.1_5'UTR	p.T167M	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN			2	504	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	167			YrdC-like.		Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Missense_Mutation	SNP	ENST00000373044.2	37	c.500C>T	CCDS30675.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506623	0.64410	.	.	ENSG00000196449	ENST00000373044	.	.	.	4.96	3.98	0.46160	DHBP synthase RibB-like alpha/beta domain (2);Sua5/YciO/YrdC, N-terminal (2);Sua5/YciO/YrdC/YwlC (1);	0.049433	0.85682	D	0.000000	T	0.75568	0.3867	M	0.70108	2.13	0.80722	D	1	D	0.71674	0.998	D	0.68192	0.956	T	0.76399	-0.2973	9	0.42905	T	0.14	.	14.3963	0.67013	0.0:0.1485:0.8515:0.0	.	167	Q86U90	YRDC_HUMAN	M	167	.	ENSP00000362135:T167M	T	-	2	0	YRDC	38045364	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	6.916000	0.75776	2.302000	0.77476	0.563000	0.77884	ACG		0.522	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012470.1	NM_024640		3	46	0	0	0	1	0	3	46				
ANKRD11	29123	broad.mit.edu	37	16	89352043	89352043	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:89352043C>G	ENST00000301030.4	-	9	1367	c.907G>C	c.(907-909)Gaa>Caa	p.E303Q	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E303Q	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	303					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)		GGTGCGTCTTCCTCTTCTGAG	0.567																																						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.(907-909)Gaa>Caa		ankyrin repeat domain 11							135.0	109.0	118.0					16																	89352043		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89352043C>G	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.907G>C	16.37:g.89352043C>G	ENSP00000301030:p.Glu303Gln					ANKRD11_ENST00000378330.2_Missense_Mutation_p.E303Q	p.E303Q	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	1367	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	303					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.907G>C	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269621	0.59540	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.44881	0.91;0.91	5.54	5.54	0.83059	.	0.055149	0.64402	D	0.000001	T	0.66005	0.2746	M	0.69823	2.125	0.80722	D	1	D	0.64830	0.994	D	0.72338	0.977	T	0.67991	-0.5527	10	0.72032	D	0.01	.	19.4699	0.94959	0.0:1.0:0.0:0.0	.	303	Q6UB99	ANR11_HUMAN	Q	303;303;317	ENSP00000301030:E303Q;ENSP00000367581:E303Q	ENSP00000301030:E303Q	E	-	1	0	ANKRD11	87879544	1.000000	0.71417	0.986000	0.45419	0.118000	0.20060	7.622000	0.83099	2.602000	0.87976	0.563000	0.77884	GAA		0.567	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		4	53	0	0	0	1	0	4	53				
CADM3	57863	broad.mit.edu	37	1	159163349	159163349	+	Splice_Site	SNP	C	C	T	rs200132536		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:159163349C>T	ENST00000368125.4	+	4	676	c.519C>T	c.(517-519)caC>caT	p.H173H	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Splice_Site_p.H207H	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	173	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.H207H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AAGAACTCCACGGTGAGTACC	0.537																																						ENST00000368125.4																			1	Substitution - coding silent(1)	p.H207H(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.e4+1		cell adhesion molecule 3		C	,	0,4406		0,0,2203	62.0	58.0	59.0		519,621	-6.1	0.1	1		59	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	CADM3	NM_001127173.1,NM_021189.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	173/399,207/433	159163349	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159163349C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.520+1C>T	1.37:g.159163349C>T						CADM3_ENST00000368124.4_Splice_Site_p.H207_splice	p.H173_splice	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			4	676	+	all_hematologic(112;0.0429)		173			Ig-like C2-type 1.		Q8IZQ9|Q9NVJ5|Q9UJP1	Splice_Site	SNP	ENST00000368125.4	37	c.520_splice	CCDS44251.1																																																																																				0.537	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	Silent	4	42	0	0	0	1	0	4	42				
CCNJ	54619	broad.mit.edu	37	10	97810164	97810164	+	Missense_Mutation	SNP	G	G	A	rs201712540		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:97810164G>A	ENST00000265992.5	+	3	588	c.221G>A	c.(220-222)cGc>cAc	p.R74H	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R74H|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R74H|CCNJ_ENST00000534974.1_Missense_Mutation_p.R74H	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	74	Cyclin N-terminal.					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)		TTTATGGACCGCTATGACATC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		17575	0.0		0.001	False		,,,				2504	0.0					ENST00000265992.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11						c.(220-222)cGc>cAc		cyclin J							174.0	154.0	161.0					10																	97810164		2203	4300	6503	SO:0001583	missense	54619					nucleus		g.chr10:97810164G>A	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.221G>A	10.37:g.97810164G>A	ENSP00000265992:p.Arg74His					CCNJ_ENST00000534974.1_Missense_Mutation_p.R74H|CCNJ_ENST00000465148.2_Missense_Mutation_p.R74H|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R74H|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA	p.R74H	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)	3	588	+			74			Cyclin N-terminal.		B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	ENST00000265992.5	37	c.221G>A	CCDS7445.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	28.8	4.951748	0.92660	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.12465	2.68;2.68;2.68	5.26	5.26	0.73747	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	L	0.39085	1.19	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	T	0.01776	-1.1276	10	0.17369	T	0.5	-14.3036	18.0671	0.89394	0.0:0.0:1.0:0.0	.	74;74;74	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	H	74	ENSP00000265992:R74H;ENSP00000384498:R74H;ENSP00000441415:R74H	ENSP00000265992:R74H	R	+	2	0	CCNJ	97800154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.599000	0.74127	2.634000	0.89283	0.644000	0.83932	CGC		0.453	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		8	179	0	0	0	1	0	8	179				
KCNH5	27133	broad.mit.edu	37	14	63447901	63447901	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:63447901A>G	ENST00000322893.7	-	6	899	c.631T>C	c.(631-633)Tgt>Cgt	p.C211R	KCNH5_ENST00000394964.2_Missense_Mutation_p.C153R|KCNH5_ENST00000394968.1_Missense_Mutation_p.C153R|KCNH5_ENST00000420622.2_Missense_Mutation_p.C211R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	211					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTAAAAGCACAATAATGTAAA	0.363																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(631-633)Tgt>Cgt		potassium voltage-gated channel, subfamily H (eag-related), member 5							73.0	74.0	73.0					14																	63447901		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63447901A>G	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.631T>C	14.37:g.63447901A>G	ENSP00000321427:p.Cys211Arg					KCNH5_ENST00000394964.2_Missense_Mutation_p.C153R|KCNH5_ENST00000394968.1_Missense_Mutation_p.C153R|KCNH5_ENST00000420622.2_Missense_Mutation_p.C211R	p.C211R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	6	899	-			211					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.631T>C	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	A	19.39	3.818462	0.71028	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98849	-5.18;-5.0;-4.99;-5.0	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	M	0.66939	2.045	0.80722	D	1	P;P;P;D	0.63046	0.883;0.889;0.889;0.992	B;P;P;D	0.64237	0.335;0.637;0.637;0.923	D	0.99655	1.0992	10	0.59425	D	0.04	.	15.1763	0.72913	1.0:0.0:0.0:0.0	.	153;153;211;211	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	R	211;211;153;153	ENSP00000321427:C211R;ENSP00000395439:C211R;ENSP00000378419:C153R;ENSP00000378415:C153R	ENSP00000321427:C211R	C	-	1	0	KCNH5	62517654	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.273000	0.95719	1.991000	0.58162	0.377000	0.23210	TGT		0.363	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		3	26	0	0	0	1	0	3	26				
CCDC82	79780	broad.mit.edu	37	11	96117582	96117582	+	Silent	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:96117582T>C	ENST00000278520.5	-	3	758	c.330A>G	c.(328-330)gaA>gaG	p.E110E	CCDC82_ENST00000542662.1_Silent_p.E110E|CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_Silent_p.E110E			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	110										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCGTTTCTTCTTCATATGTTG	0.338																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(328-330)gaA>gaG		coiled-coil domain containing 82							193.0	185.0	188.0					11																	96117582		2201	4297	6498	SO:0001819	synonymous_variant	79780						protein binding	g.chr11:96117582T>C	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.330A>G	11.37:g.96117582T>C						CCDC82_ENST00000423339.2_Silent_p.E110E|CCDC82_ENST00000542662.1_Silent_p.E110E	p.E110E			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	3	758	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	110					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	ENST00000278520.5	37	c.330A>G	CCDS8307.1																																																																																				0.338	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		9	91	0	0	0	1	0	9	91				
HTR3A	3359	broad.mit.edu	37	11	113853983	113853983	+	Silent	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:113853983G>T	ENST00000504030.2	+	5	961	c.516G>T	c.(514-516)tcG>tcT	p.S172S	HTR3A_ENST00000299961.5_Silent_p.S157S|HTR3A_ENST00000506841.2_Silent_p.S172S|HTR3A_ENST00000375498.2_Silent_p.S178S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Silent_p.S178S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	172					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)	AGAACTGCTCGCTGACCTTCA	0.587																																						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.(514-516)tcG>tcT		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)						185.0	169.0	174.0					11																	113853983		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.chr11:113853983G>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.516G>T	11.37:g.113853983G>T						HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Silent_p.S178S|HTR3A_ENST00000506841.2_Silent_p.S172S|HTR3A_ENST00000355556.2_Silent_p.S178S|HTR3A_ENST00000299961.5_Silent_p.S157S	p.S172S			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	961	+		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)	172					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.516G>T																																																																																					0.587	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		15	217	1	0	2.39187e-15	1	2.80646e-15	15	217				
LRP1	4035	broad.mit.edu	37	12	57581134	57581134	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:57581134G>A	ENST00000243077.3	+	42	7392	c.6926G>A	c.(6925-6927)cGc>cAc	p.R2309H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2309					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)	ACCATCACGCGCCACACAGTG	0.602																																						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.(6925-6927)cGc>cAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						95.0	87.0	90.0					12																	57581134		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.chr12:57581134G>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.6926G>A	12.37:g.57581134G>A	ENSP00000243077:p.Arg2309His						p.R2309H	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	42	7392	+			2309					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.6926G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805251	0.50315	.	.	ENSG00000123384	ENST00000243077	D	0.92048	-2.96	4.39	3.48	0.39840	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000003	D	0.95677	0.8594	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.95817	0.8846	10	0.72032	D	0.01	.	12.8501	0.57852	0.0:0.0:0.8351:0.1649	.	2309	Q07954	LRP1_HUMAN	H	2309	ENSP00000243077:R2309H	ENSP00000243077:R2309H	R	+	2	0	LRP1	55867401	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	9.566000	0.98157	1.177000	0.42855	-0.181000	0.13052	CGC		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	83	0	0	0	1	0	3	83				
STAC3	246329	broad.mit.edu	37	12	57640646	57640646	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:57640646G>A	ENST00000332782.2	-	6	745	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	STAC3_ENST00000546246.2_5'UTR|STAC3_ENST00000554578.1_Missense_Mutation_p.R143C	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	182					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						ACCCCAGTGCGCAGGGTTTCA	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.(544-546)Cgc>Tgc		SH3 and cysteine rich domain 3							259.0	208.0	225.0					12																	57640646		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57640646G>A	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.544C>T	12.37:g.57640646G>A	ENSP00000329200:p.Arg182Cys					STAC3_ENST00000546246.2_5'UTR|STAC3_ENST00000554578.1_Missense_Mutation_p.R143C	p.R182C	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			6	745	-			182					B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.544C>T	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652528	0.67472	.	.	ENSG00000185482	ENST00000554578;ENST00000332782	D;D	0.84442	-1.8;-1.85	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.90707	0.7084	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.91267	0.5041	10	0.87932	D	0	-10.6552	12.4861	0.55874	0.0:0.0:0.8322:0.1678	.	182	Q96MF2	STAC3_HUMAN	C	143;182	ENSP00000452068:R143C;ENSP00000329200:R182C	ENSP00000329200:R182C	R	-	1	0	STAC3	55926913	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.502000	0.53332	2.573000	0.86826	0.655000	0.94253	CGC		0.507	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		4	201	0	0	0	1	0	4	201				
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:124857495A>C	ENST00000344762.5	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000529051.1_Missense_Mutation_p.H458P	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418													C|||	6	0.00119808	0.0008	0.0	5008	,	,		19182	0.005		0.0	False		,,,				2504	0.0					ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1372-1374)cAc>cCc		coiled-coil domain containing 15		C	PRO/HIS	5,3679		0,5,1837	109.0	105.0	106.0		1373	-1.4	0.0	11	dbSNP_132	106	0,8170		0,0,4085	yes	missense	CCDC15	NM_025004.2	77	0,5,5922	CC,CA,AA		0.0,0.1357,0.0422	benign	458/952	124857495	5,11849	1842	4085	5927	SO:0001583	missense	80071					centrosome		g.chr11:124857495A>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1373A>C	11.37:g.124857495A>C	ENSP00000341684:p.His458Pro					CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P	p.H458P			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1632	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	458					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1373A>C	CCDS44756.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	0.007	-1.935858	0.00484	0.001357	0.0	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29142	1.6;1.58	3.32	-1.4	0.08968	.	.	.	.	.	T	0.04272	0.0118	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	9	0.02654	T	1	0.0636	3.381	0.07255	0.5595:0.2054:0.1382:0.0969	.	458	Q0P6D6	CCD15_HUMAN	P	458	ENSP00000435403:H458P;ENSP00000341684:H458P	ENSP00000341684:H458P	H	+	2	0	CCDC15	124362705	.	.	0.000000	0.03702	0.085000	0.17905	.	.	-0.576000	0.05974	-0.215000	0.12644	CAC		0.418	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		3	67	0	0	0	1	0	3	67				
TUBB8P7	197331	broad.mit.edu	37	16	90162517	90162517	+	RNA	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:90162517C>T	ENST00000564451.1	+	0	1870				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CATGAATGACCTGGTGTCTGA	0.532																																						ENST00000567960.1																			0																																																			0							g.chr16:90162517C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162517C>T						TUBB8P7_ENST00000564451.1_RNA								0	1253	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.532	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	143	0	0	0	1	0	3	143				
LAMTOR2	28956	broad.mit.edu	37	1	156025148	156025148	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:156025148G>A	ENST00000368305.4	+	2	301	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	LAMTOR2_ENST00000368302.3_Missense_Mutation_p.A55T|UBQLN4_ENST00000472638.1_5'Flank|UBQLN4_ENST00000368309.3_5'Flank|LAMTOR2_ENST00000368304.5_Missense_Mutation_p.A55T|LAMTOR2_ENST00000489664.1_3'UTR	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	55					activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						CATCTGGGCCGCCTACGACCG	0.567																																						ENST00000368305.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(163-165)Gcc>Acc		late endosomal/lysosomal adaptor, MAPK and MTOR activator 2							100.0	102.0	101.0					1																	156025148		2203	4300	6503	SO:0001583	missense	28956				cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex		g.chr1:156025148G>A	BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"""mitogen activated protein binding protein interacting protein"", ""MAPKSP1 adaptor protein"", ""endosomal adaptor protein"""	610389	"""roadblock domain containing 3"""	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.163G>A	1.37:g.156025148G>A	ENSP00000357288:p.Ala55Thr					LAMTOR2_ENST00000489664.1_3'UTR|LAMTOR2_ENST00000368302.3_Missense_Mutation_p.A55T|LAMTOR2_ENST00000368304.5_Missense_Mutation_p.A55T	p.A55T	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN			2	301	+			55					Q5VY97|Q5VY98|Q5VY99	Missense_Mutation	SNP	ENST00000368305.4	37	c.163G>A	CCDS1128.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210133	0.79240	.	.	ENSG00000116586	ENST00000368305;ENST00000368304;ENST00000368302	T;T;T	0.28255	1.62;1.62;1.62	5.7	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.48174	1.505	0.80722	D	1	P;B	0.52842	0.956;0.427	P;B	0.44477	0.451;0.116	T	0.01537	-1.1330	10	0.40728	T	0.16	-11.7071	13.5938	0.61978	0.0755:0.0:0.9245:0.0	.	55;55	Q5VY98;Q9Y2Q5	.;LTOR2_HUMAN	T	55	ENSP00000357288:A55T;ENSP00000357287:A55T;ENSP00000357285:A55T	ENSP00000357285:A55T	A	+	1	0	LAMTOR2	154291772	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.174000	0.94824	1.408000	0.46895	0.655000	0.94253	GCC		0.567	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046197.1	NM_014017		3	129	0	0	0	1	0	3	129				
EPHB1	2047	broad.mit.edu	37	3	134968200	134968200	+	Missense_Mutation	SNP	C	C	T	rs143309901	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:134968200C>T	ENST00000398015.3	+	15	3083	c.2713C>T	c.(2713-2715)Cgc>Tgc	p.R905C	EPHB1_ENST00000493838.1_Missense_Mutation_p.R466C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	905					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						CCTGCTCGACCGCTCCATCCC	0.592													C|||	3	0.000599042	0.0	0.0	5008	,	,		21200	0.003		0.0	False		,,,				2504	0.0					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.(2713-2715)Cgc>Tgc		EPH receptor B1							69.0	73.0	72.0					3																	134968200		2129	4241	6370	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134968200C>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.2713C>T	3.37:g.134968200C>T	ENSP00000381097:p.Arg905Cys					EPHB1_ENST00000493838.1_Missense_Mutation_p.R466C	p.R905C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			15	3083	+			905					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2713C>T	CCDS46921.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	24.9	4.586844	0.86851	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.62639	0.01;0.01	5.43	5.43	0.79202	Sterile alpha motif/pointed domain (1);	0.054554	0.64402	D	0.000001	T	0.77308	0.4111	M	0.86343	2.81	0.80722	D	1	D	0.67145	0.996	P	0.51918	0.684	T	0.82028	-0.0660	10	0.87932	D	0	.	19.4372	0.94801	0.0:1.0:0.0:0.0	.	905	P54762	EPHB1_HUMAN	C	905;466	ENSP00000381097:R905C;ENSP00000419574:R466C	ENSP00000381097:R905C	R	+	1	0	EPHB1	136450890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.684000	0.61686	2.827000	0.97445	0.650000	0.86243	CGC		0.592	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		4	84	0	0	0	1	0	4	84				
WDR70	55100	broad.mit.edu	37	5	37379473	37379473	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:37379473G>T	ENST00000265107.4	+	1	160	c.4G>T	c.(4-6)Gag>Tag	p.E2*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.E2*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	2							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAGCCATGGAGCGCTCTGG	0.657																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(4-6)Gag>Tag		WD repeat domain 70							76.0	90.0	85.0					5																	37379473		2203	4300	6503	SO:0001587	stop_gained	55100							g.chr5:37379473G>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.4G>T	5.37:g.37379473G>T	ENSP00000265107:p.Glu2*					WDR70_ENST00000504564.1_Nonsense_Mutation_p.E2*	p.E2*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	160	+	all_lung(31;0.000285)		2					Q9H053	Nonsense_Mutation	SNP	ENST00000265107.4	37	c.4G>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139242	0.77775	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	.	.	.	4.07	4.07	0.47477	.	0.476655	0.14375	U	0.323554	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.3277	13.61	0.62071	0.0:0.0:1.0:0.0	.	.	.	.	X	2	.	ENSP00000265107:E2X	E	+	1	0	WDR70	37415230	1.000000	0.71417	0.995000	0.50966	0.225000	0.24961	4.575000	0.60908	2.273000	0.75805	0.557000	0.71058	GAG		0.657	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		18	236	1	0	5.45024e-15	1	6.3108e-15	18	236				
XYLT1	64131	broad.mit.edu	37	16	17294398	17294398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:17294398G>A	ENST00000261381.6	-	4	1111	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	343					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AACATGCGCTGCAACTGCCGA	0.582																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1027-1029)Cag>Tag		xylosyltransferase I							219.0	184.0	196.0					16																	17294398		2197	4300	6497	SO:0001587	stop_gained	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17294398G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1027C>T	16.37:g.17294398G>A	ENSP00000261381:p.Gln343*						p.Q343*	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			4	1111	-			343					Q9H1B6	Nonsense_Mutation	SNP	ENST00000261381.6	37	c.1027C>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	38	6.652241	0.97734	.	.	ENSG00000103489	ENST00000261381	.	.	.	5.03	5.03	0.67393	.	0.106709	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.8328	17.3742	0.87387	0.0:0.0:1.0:0.0	.	.	.	.	X	343	.	ENSP00000261381:Q343X	Q	-	1	0	XYLT1	17201899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.313000	0.65798	2.343000	0.79666	0.655000	0.94253	CAG		0.582	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		13	170	0	0	0	1	0	13	170				
CHAF1A	10036	broad.mit.edu	37	19	4409410	4409410	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:4409410G>A	ENST00000301280.5	+	3	715	c.614G>A	c.(613-615)cGg>cAg	p.R205Q		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	205	Binds to CBX1 chromo shadow domain.				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)		TGTTCGCCACGGAGCTGCCCG	0.597								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.(613-615)cGg>cAg	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							75.0	78.0	77.0					19																	4409410		2203	4300	6503	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.chr19:4409410G>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.614G>A	19.37:g.4409410G>A	ENSP00000301280:p.Arg205Gln						p.R205Q	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)	3	715	+		Hepatocellular(1079;0.137)	205			Binds to CBX1 chromo shadow domain.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.614G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	3.670	-0.067702	0.07273	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.47177	0.85	5.54	-2.61	0.06171	.	.	.	.	.	T	0.11196	0.0273	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20706	-1.0267	9	0.87932	D	0	0.0729	0.3625	0.00366	0.3373:0.1375:0.2581:0.267	.	205	Q13111	CAF1A_HUMAN	Q	205	ENSP00000301280:R205Q	ENSP00000301280:R205Q	R	+	2	0	CHAF1A	4360410	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.053000	0.11846	-1.002000	0.03429	-1.149000	0.01842	CGG		0.597	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		31	30	0	0	0	1	0	31	30				
IRS4	8471	broad.mit.edu	37	X	107977561	107977561	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:107977561C>G	ENST00000372129.2	-	1	2090	c.2014G>C	c.(2014-2016)Gaa>Caa	p.E672Q	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	672					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						TCTTTCACTTCTTTGGCTTCT	0.498																																						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.(2014-2016)Gaa>Caa		insulin receptor substrate 4							275.0	273.0	273.0					X																	107977561		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977561C>G	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.2014G>C	X.37:g.107977561C>G	ENSP00000361202:p.Glu672Gln						p.E672Q	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	2090	-			672						Missense_Mutation	SNP	ENST00000372129.2	37	c.2014G>C	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	7.948	0.744329	0.15710	.	.	ENSG00000133124	ENST00000372129	T	0.39229	1.09	4.2	3.33	0.38152	.	0.431704	0.22304	N	0.061824	T	0.35098	0.0920	M	0.65498	2.005	0.09310	N	1	B	0.34214	0.442	B	0.29440	0.102	T	0.20472	-1.0274	10	0.33141	T	0.24	-4.5847	7.9499	0.30008	0.0:0.7439:0.1617:0.0943	.	672	O14654	IRS4_HUMAN	Q	672	ENSP00000361202:E672Q	ENSP00000361202:E672Q	E	-	1	0	IRS4	107864217	0.995000	0.38212	0.497000	0.27552	0.035000	0.12851	2.752000	0.47516	2.078000	0.62432	0.556000	0.70494	GAA		0.498	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		33	165	0	0	0	1	0	33	165				
SEC14L2	23541	broad.mit.edu	37	22	30812287	30812287	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr22:30812287G>A	ENST00000312932.9	+	11	1236	c.976G>A	c.(976-978)Gag>Aag	p.E326K	SEC14L2_ENST00000405717.3_Missense_Mutation_p.E326K|SEC14L2_ENST00000403484.1_Missense_Mutation_p.E252K|SEC14L2_ENST00000402592.3_Missense_Mutation_p.E243K|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.E160K	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	326	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)	CAAGATGGGAGAGAGGCAGCG	0.537																																						ENST00000312932.9																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10						c.(976-978)Gag>Aag		SEC14-like 2 (S. cerevisiae)	Vitamin E(DB00163)						88.0	88.0	88.0					22																	30812287		2203	4300	6503	SO:0001583	missense	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30812287G>A	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.976G>A	22.37:g.30812287G>A	ENSP00000316203:p.Glu326Lys					SEC14L2_ENST00000405717.3_Missense_Mutation_p.E326K|SEC14L2_ENST00000403484.1_Missense_Mutation_p.E252K|SEC14L2_ENST00000402592.3_Missense_Mutation_p.E243K|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.E160K	p.E326K	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN			11	1236	+			326			GOLD.		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Missense_Mutation	SNP	ENST00000312932.9	37	c.976G>A	CCDS13876.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255276	0.95336	.	.	ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000249590	ENST00000312932;ENST00000403484;ENST00000405717;ENST00000402592;ENST00000439838	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.42	5.42	0.78866	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.80616	2.505	0.80722	D	1	P;P;P;P;B;P	0.52170	0.806;0.902;0.457;0.762;0.071;0.951	B;P;B;B;B;P	0.50049	0.309;0.518;0.11;0.31;0.013;0.629	T	0.63703	-0.6577	10	0.40728	T	0.16	-14.4454	19.0011	0.92834	0.0:0.0:1.0:0.0	.	243;243;272;252;326;326	F5H3U4;B7Z8Q1;B7Z3Z8;B3KRD8;O76054;O76054-4	.;.;.;.;S14L2_HUMAN;.	K	326;252;326;243;160	ENSP00000316203:E326K;ENSP00000383993:E252K;ENSP00000385186:E326K;ENSP00000383882:E243K;ENSP00000415178:E160K	ENSP00000415178:E160K	E	+	1	0	RP4-539M6.19;SEC14L2	29142287	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.184000	0.58323	2.820000	0.97059	0.650000	0.86243	GAG		0.537	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		3	73	0	0	0	1	0	3	73				
CRTAC1	55118	broad.mit.edu	37	10	99667831	99667831	+	Silent	SNP	C	C	A	rs112478506		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:99667831C>A	ENST00000370597.3	-	6	1144	c.789G>T	c.(787-789)ggG>ggT	p.G263G	CRTAC1_ENST00000298819.4_Silent_p.G263G|CRTAC1_ENST00000370591.2_Silent_p.G263G	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	263						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGAAGTTAGGCCCATTCTCAT	0.612																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(787-789)ggG>ggT		cartilage acidic protein 1							92.0	70.0	78.0					10																	99667831		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99667831C>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.789G>T	10.37:g.99667831C>A						CRTAC1_ENST00000298819.4_Silent_p.G263G|CRTAC1_ENST00000370591.2_Silent_p.G263G	p.G263G	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	6	1144	-		Colorectal(252;0.24)	263					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	c.789G>T	CCDS31266.1																																																																																				0.612	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		3	50	1	0	0.115264	1	0.117945	3	50				
SUSD5	26032	broad.mit.edu	37	3	33216454	33216454	+	Silent	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:33216454G>A	ENST00000309558.3	-	4	939	c.522C>T	c.(520-522)ggC>ggT	p.G174G		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	174	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCTCCCGGTGGCCCATGATGT	0.632																																						ENST00000309558.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(520-522)ggC>ggT		sushi domain containing 5							69.0	74.0	73.0					3																	33216454		2061	4182	6243	SO:0001819	synonymous_variant	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33216454G>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.522C>T	3.37:g.33216454G>A							p.G174G	NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN			4	939	-			174			Sushi.			Silent	SNP	ENST00000309558.3	37	c.522C>T	CCDS46787.1																																																																																				0.632	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		6	105	0	0	0	1	0	6	105				
PREX2	80243	broad.mit.edu	37	8	69046379	69046379	+	Silent	SNP	G	G	A	rs150877619		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:69046379G>A	ENST00000288368.4	+	32	4129	c.3852G>A	c.(3850-3852)gcG>gcA	p.A1284A		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1284					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCTCATGGCGGCCTTGAACC	0.502																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(3850-3852)gcG>gcA		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2		G		1,4405	2.1+/-5.4	0,1,2202	87.0	82.0	84.0		3852	-10.8	0.0	8	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous	PREX2	NM_024870.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1284/1607	69046379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69046379G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3852G>A	8.37:g.69046379G>A							p.A1284A	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			32	4129	+			1284					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.3852G>A	CCDS6201.1																																																																																				0.502	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		4	55	0	0	0	1	0	4	55				
VIT	5212	broad.mit.edu	37	2	36982191	36982191	+	Missense_Mutation	SNP	G	G	A	rs138478832		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:36982191G>A	ENST00000389975.3	+	5	705	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	VIT_ENST00000379242.3_Missense_Mutation_p.V135I|VIT_ENST00000404084.1_Missense_Mutation_p.V113I|VIT_ENST00000379241.3_Missense_Mutation_p.V135I|VIT_ENST00000457137.2_Missense_Mutation_p.V135I|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Missense_Mutation_p.V135I	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	135					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ATCCTTTATCGTCTTAGGTAT	0.443																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(403-405)Gtc>Atc		vitrin		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	120.0	102.0	108.0		403,403,403,403,403	-1.2	0.4	2	dbSNP_134	108	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_001177972.1,NM_053276.3	29,29,29,29,29	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign,benign,benign,benign,benign	135/679,135/658,135/657,135/204,135/694	36982191	4,13002	2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:36982191G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.403G>A	2.37:g.36982191G>A	ENSP00000374625:p.Val135Ile					VIT_ENST00000404084.1_Missense_Mutation_p.V113I|VIT_ENST00000379241.3_Missense_Mutation_p.V135I|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000389975.3_Missense_Mutation_p.V135I|VIT_ENST00000457137.2_Missense_Mutation_p.V135I|VIT_ENST00000401530.1_Missense_Mutation_p.V135I	p.V135I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			5	705	+		all_hematologic(82;0.248)	135					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.403G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469369	0.26423	4.54E-4	2.33E-4	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.63	-1.25	0.09405	LCCL (2);	0.311868	0.34879	N	0.003603	T	0.81992	0.4940	L	0.47716	1.5	0.32538	N	0.534023	B;B;B;B;B;B	0.29835	0.258;0.056;0.153;0.056;0.154;0.252	B;B;B;B;B;B	0.24394	0.016;0.016;0.023;0.016;0.037;0.053	T	0.76512	-0.2932	10	0.46703	T	0.11	-15.607	11.5419	0.50672	0.5534:0.0:0.4466:0.0	.	135;135;135;135;135;135	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	I	135;135;135;135;113;135;135	ENSP00000368544:V135I;ENSP00000374625:V135I;ENSP00000393561:V135I;ENSP00000384154:V113I;ENSP00000368543:V135I;ENSP00000385658:V135I	ENSP00000368543:V135I	V	+	1	0	VIT	36835695	0.501000	0.26099	0.384000	0.26145	0.479000	0.33129	0.722000	0.25925	-0.170000	0.10816	-0.123000	0.14984	GTC		0.443	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				4	33	0	0	0	1	0	4	33				
OLFML2B	25903	broad.mit.edu	37	1	161967994	161967994	+	Silent	SNP	G	G	A	rs34123330	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:161967994G>A	ENST00000294794.3	-	6	1518	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	OLFML2B_ENST00000367940.2_Silent_p.N366N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	365					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.N365N(2)		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)			CGGTCCGAGCGTTCAGGTCGC	0.612													G|||	14	0.00279553	0.0106	0.0	5008	,	,		18931	0.0		0.0	False		,,,				2504	0.0					ENST00000294794.3																			2	Substitution - coding silent(2)	p.N365N(2)	large_intestine(1)|lung(1)	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.(1093-1095)aaC>aaT		olfactomedin-like 2B		G		28,4378	34.3+/-65.2	0,28,2175	142.0	144.0	143.0		1095	-2.0	0.0	1	dbSNP_126	143	0,8600		0,0,4300	no	coding-synonymous	OLFML2B	NM_015441.1		0,28,6475	AA,AG,GG		0.0,0.6355,0.2153		365/751	161967994	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161967994G>A	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.1095C>T	1.37:g.161967994G>A						OLFML2B_ENST00000367940.2_Silent_p.N366N	p.N365N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1518	-	all_hematologic(112;0.156)		365					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1095C>T	CCDS1236.1																																																																																				0.612	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		8	158	0	0	0	1	0	8	158				
TMTC2	160335	broad.mit.edu	37	12	83251221	83251221	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:83251221C>G	ENST00000321196.3	+	2	1223	c.516C>G	c.(514-516)ttC>ttG	p.F172L	TMTC2_ENST00000549919.1_Missense_Mutation_p.F166L|TMTC2_ENST00000548305.1_Missense_Mutation_p.F172L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	172					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						GGGGCTGGTTCCTGGGGTCAG	0.512																																						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.(496-498)ttC>ttG		transmembrane and tetratricopeptide repeat containing 2							92.0	74.0	80.0					12																	83251221		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251221C>G	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.516C>G	12.37:g.83251221C>G	ENSP00000322300:p.Phe172Leu					TMTC2_ENST00000321196.3_Missense_Mutation_p.F172L|TMTC2_ENST00000548305.1_Missense_Mutation_p.F172L	p.F166L			Q8N394	TMTC2_HUMAN			3	2303	+			172					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.498C>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	5.254	0.232272	0.09969	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.58210	0.97;0.35;0.86	5.6	4.69	0.59074	.	0.109437	0.64402	D	0.000006	T	0.22820	0.0551	N	0.02403	-0.565	0.47407	D	0.999417	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.22417	-1.0217	10	0.02654	T	1	-24.351	12.5623	0.56288	0.0:0.9234:0.0:0.0766	.	172;172	Q8N394;F8VSH2	TMTC2_HUMAN;.	L	172;172;166	ENSP00000322300:F172L;ENSP00000448292:F172L;ENSP00000447609:F166L	ENSP00000322300:F172L	F	+	3	2	TMTC2	81775352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.443000	0.35057	2.788000	0.95919	0.650000	0.86243	TTC		0.512	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		21	20	0	0	0	1	0	21	20				
OR9A2	135924	broad.mit.edu	37	7	142723348	142723348	+	Missense_Mutation	SNP	T	T	C	rs574290249		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:142723348T>C	ENST00000350513.2	-	1	934	c.872A>G	c.(871-873)gAc>gGc	p.D291G		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D291V(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTTGACTTTGTCATTCCGAAG	0.458													T|||	1	0.000199681	0.0	0.0	5008	,	,		19757	0.0		0.0	False		,,,				2504	0.001					ENST00000350513.2																			1	Substitution - Missense(1)	p.D291V(1)	lung(1)	central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25						c.(871-873)gAc>gGc		olfactory receptor, family 9, subfamily A, member 2							87.0	93.0	91.0					7																	142723348		2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723348T>C		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.872A>G	7.37:g.142723348T>C	ENSP00000316518:p.Asp291Gly						p.D291G	NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN			1	934	-	Melanoma(164;0.059)		291					B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.872A>G	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.987482	0.53934	.	.	ENSG00000179468	ENST00000350513	T	0.37235	1.21	4.59	4.59	0.56863	.	0.000000	0.41823	U	0.000811	T	0.29976	0.0750	N	0.11845	0.185	0.33409	D	0.578425	D	0.54772	0.968	P	0.50314	0.637	T	0.48468	-0.9033	10	0.87932	D	0	-14.6695	12.2123	0.54386	0.0:0.0:0.0:1.0	.	291	Q8NGT5	OR9A2_HUMAN	G	291	ENSP00000316518:D291G	ENSP00000316518:D291G	D	-	2	0	OR9A2	142433470	0.952000	0.32445	1.000000	0.80357	0.368000	0.29767	2.454000	0.44979	2.045000	0.60652	0.459000	0.35465	GAC		0.458	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			6	77	0	0	0	1	0	6	77				
CNDP1	84735	broad.mit.edu	37	18	72223614	72223614	+	Silent	SNP	C	C	T	rs374404266	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:72223614C>T	ENST00000358821.3	+	2	294	c.66C>T	c.(64-66)cgC>cgT	p.R22R	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Intron	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	22						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGCTGGAGCGCGGCATGTTCT	0.557													C|||	5	0.000998403	0.0	0.0	5008	,	,		16901	0.005		0.0	False		,,,				2504	0.0				Melanoma(32;1029 1042 25286 38395 44237)	ENST00000358821.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(64-66)cgC>cgT		carnosine dipeptidase 1 (metallopeptidase M20 family)		C		0,4406		0,0,2203	67.0	64.0	65.0		66	-11.8	0.0	18		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CNDP1	NM_032649.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		22/508	72223614	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72223614C>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.66C>T	18.37:g.72223614C>T						CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Intron	p.R22R	NM_032649.5	NP_116038.4	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	2	294	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	22					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP	ENST00000358821.3	37	c.66C>T	CCDS12007.1																																																																																				0.557	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		5	106	0	0	0	1	0	5	106				
SPHKAP	80309	broad.mit.edu	37	2	228882388	228882388	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:228882388G>A	ENST00000392056.3	-	7	3228	c.3182C>T	c.(3181-3183)gCg>gTg	p.A1061V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1061V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1061						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A1061V(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)		ATAGCCCTGCGCCTGCCACAT	0.557																																						ENST00000392056.3																			2	Substitution - Missense(2)	p.A1061V(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.(3181-3183)gCg>gTg		SPHK1 interactor, AKAP domain containing							58.0	59.0	59.0					2																	228882388		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882388G>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.3182C>T	2.37:g.228882388G>A	ENSP00000375909:p.Ala1061Val					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1061V	p.A1061V	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	3228	-		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)	1061					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3182C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134160	0.56828	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13089	2.62;2.63	6.08	3.07	0.35406	.	0.334401	0.34828	N	0.003651	T	0.12944	0.0314	N	0.14661	0.345	0.26935	N	0.966371	P;P;D	0.58268	0.936;0.892;0.982	B;B;P	0.48677	0.178;0.202;0.586	T	0.09292	-1.0681	10	0.46703	T	0.11	-6.9938	16.4974	0.84249	0.0:0.5827:0.4173:0.0	.	92;1061;1061	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1061	ENSP00000375909:A1061V;ENSP00000339886:A1061V	ENSP00000339886:A1061V	A	-	2	0	SPHKAP	228590632	1.000000	0.71417	0.996000	0.52242	0.540000	0.34992	2.763000	0.47605	0.836000	0.34901	0.655000	0.94253	GCG		0.557	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		9	88	0	0	0	1	0	9	88				
CNTNAP4	85445	broad.mit.edu	37	16	76573710	76573710	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:76573710C>T	ENST00000476707.1	+	19	3463	c.3324C>T	c.(3322-3324)caC>caT	p.H1108H	CNTNAP4_ENST00000377504.4_Silent_p.H1056H|CNTNAP4_ENST00000307431.8_Silent_p.H1104H|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.H1032H			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1105	Laminin G-like 4. {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						AACTTCACCACATAATGATTA	0.353																																						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.(3310-3312)caC>caT		contactin associated protein-like 4							97.0	100.0	99.0					16																	76573710		2078	4268	6346	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76573710C>T	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.3324C>T	16.37:g.76573710C>T						CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.H1056H|CNTNAP4_ENST00000476707.1_Silent_p.H1108H|CNTNAP4_ENST00000478060.1_Silent_p.H1032H	p.H1104H	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			21	3697	+			1105			Laminin G-like 4.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.3312C>T																																																																																					0.353	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		5	82	0	0	0	1	0	5	82				
KLHDC7A	127707	broad.mit.edu	37	1	18808932	18808932	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:18808932G>A	ENST00000400664.1	+	1	1509	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	486						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)		ATCCTGCAGCGCCGGCTCCGG	0.662																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1456-1458)cGc>cAc		kelch domain containing 7A							30.0	35.0	33.0					1																	18808932		2199	4296	6495	SO:0001583	missense	127707					integral to membrane		g.chr1:18808932G>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.1457G>A	1.37:g.18808932G>A	ENSP00000383505:p.Arg486His						p.R486H	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	1509	+		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)	486					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1457G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666831	0.47677	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.75477	-0.94	5.41	1.41	0.22369	.	0.308619	0.28332	N	0.015723	T	0.78855	0.4349	L	0.58810	1.83	0.09310	N	1	D;D	0.76494	0.999;0.996	P;P	0.62435	0.902;0.84	T	0.69562	-0.5112	10	0.72032	D	0.01	.	8.7639	0.34692	0.364:0.0:0.636:0.0	.	423;486	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	H	486;423	ENSP00000383505:R486H	ENSP00000383505:R486H	R	+	2	0	KLHDC7A	18681519	0.002000	0.14202	0.010000	0.14722	0.327000	0.28475	0.657000	0.24963	0.010000	0.14839	0.561000	0.74099	CGC		0.662	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		3	69	0	0	0	1	0	3	69				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	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							51.0	56.0	55.0					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	69	0	0	0	1	0	4	69				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170341	20170341	+	RNA	SNP	C	C	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr15:20170341C>A	ENST00000338912.5	-	0	13									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CAGGATCCTCCAAGTCCAGCC	0.527																																						ENST00000338912.5																			0																				123.0	117.0	119.0					15																	20170341		1890	4122	6012			0							g.chr15:20170341C>A	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170341C>A														0	13	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.527	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			11	136	1	0	3.27435e-08	1	3.60179e-08	11	136				
MTCL1	23255	broad.mit.edu	37	18	8824836	8824836	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:8824836G>A	ENST00000306329.11	+	13	4285	c.4285G>A	c.(4285-4287)Gag>Aag	p.E1429K	SOGA2_ENST00000400050.3_Missense_Mutation_p.E1069K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E435K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1069K|SOGA2_ENST00000359865.3_Missense_Mutation_p.E1110K|SOGA2_ENST00000306285.7_Missense_Mutation_p.E435K																							CAAGTACATCGAGGAGTTCAA	0.632																																						ENST00000359865.3																			0											c.(3328-3330)Gag>Aag		SOGA family member 2							72.0	67.0	69.0					18																	8824836		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8824836G>A																												ENST00000306329.11:c.4285G>A	18.37:g.8824836G>A	ENSP00000305027:p.Glu1429Lys					SOGA2_ENST00000400050.3_Missense_Mutation_p.E1069K|SOGA2_ENST00000306285.7_Missense_Mutation_p.E435K|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1429K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1069K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E435K	p.E1110K	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	3470	+			1420						Missense_Mutation	SNP	ENST00000306329.11	37	c.3328G>A		.	.	.	.	.	.	.	.	.	.	G	29.5	5.009157	0.93346	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.2	5.2	0.72013	.	0.000000	0.48286	D	0.000195	T	0.51534	0.1680	M	0.65498	2.005	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.986;0.999	T	0.51252	-0.8729	10	0.52906	T	0.07	-28.8502	18.7498	0.91809	0.0:0.0:1.0:0.0	.	1420;1110	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1131;1069;1110;1069;435	ENSP00000429556:E1069K;ENSP00000352927:E1110K;ENSP00000382924:E1069K;ENSP00000303670:E435K	ENSP00000303670:E435K	E	+	1	0	CCDC165	8814836	1.000000	0.71417	0.960000	0.40013	0.969000	0.65631	9.624000	0.98398	2.406000	0.81754	0.650000	0.86243	GAG		0.632	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			10	96	0	0	0	1	0	10	96				
TXNL1	9352	broad.mit.edu	37	18	54291518	54291518	+	Splice_Site	SNP	C	C	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:54291518C>A	ENST00000217515.6	-	3	574		c.e3+1		TXNL1_ENST00000590954.1_Splice_Site|TXNL1_ENST00000540155.1_Splice_Site	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1						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)		AGTCTACATACATAGCCTTTT	0.338																																						ENST00000217515.6																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.e3+1		thioredoxin-like 1							146.0	145.0	146.0					18																	54291518		2203	4299	6502	SO:0001630	splice_region_variant	9352				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	g.chr18:54291518C>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.369+1G>T	18.37:g.54291518C>A						TXNL1_ENST00000540155.1_Splice_Site|TXNL1_ENST00000590954.1_Splice_Site		NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN		READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)	3	574	-									Splice_Site	SNP	ENST00000217515.6	37		CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158573	0.78226	.	.	ENSG00000091164	ENST00000217515	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7221	0.96147	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TXNL1	52442516	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.425000	0.80255	2.834000	0.97654	0.650000	0.86243	.		0.338	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2		Intron	4	114	1	0	0.000602214	1	0.000638492	4	114				
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	rs368685662		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	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							41.0	41.0	41.0					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	44	0	0	0	1	0	3	44				
MAK	4117	broad.mit.edu	37	6	10802138	10802138	+	Missense_Mutation	SNP	G	G	T	rs149734152		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr6:10802138G>T	ENST00000313243.2	-	8	1200	c.818C>A	c.(817-819)cCg>cAg	p.P273Q	MAK_ENST00000536370.1_Missense_Mutation_p.P273Q|MAK_ENST00000538030.1_Missense_Mutation_p.P273Q|MAK_ENST00000474039.1_Missense_Mutation_p.P273Q|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.P273Q|RP11-637O19.3_ENST00000480294.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCTTGCTGTCGGTCGTTTCTT	0.383											OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000313243.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22						c.(817-819)cCg>cAg		male germ cell-associated kinase							108.0	102.0	104.0					6																	10802138		2203	4300	6503	SO:0001583	missense	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10802138G>T		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.818C>A	6.37:g.10802138G>T	ENSP00000313021:p.Pro273Gln		OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	667	SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.P273Q|MAK_ENST00000538030.1_Missense_Mutation_p.P273Q|MAK_ENST00000536370.1_Missense_Mutation_p.P273Q|MAK_ENST00000354489.2_Missense_Mutation_p.P273Q|RP11-637O19.3_ENST00000480294.1_Intron	p.P273Q			P20794	MAK_HUMAN			8	1200	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	273			Protein kinase.		F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	c.818C>A	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012322	0.93346	.	.	ENSG00000111837	ENST00000313243;ENST00000354489;ENST00000538030;ENST00000536370	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	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);	0.052150	0.85682	D	0.000000	D	0.83663	0.5303	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86106	0.1559	10	0.87932	D	0	.	19.6002	0.95559	0.0:0.0:1.0:0.0	.	273	P20794	MAK_HUMAN	Q	273	ENSP00000313021:P273Q;ENSP00000346484:P273Q;ENSP00000442250:P273Q;ENSP00000442221:P273Q	ENSP00000313021:P273Q	P	-	2	0	MAK	10910124	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.291000	0.96070	2.691000	0.91804	0.655000	0.94253	CCG		0.383	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		5	99	1	0	5.18039e-06	1	5.62808e-06	5	99				
NPAP1	23742	broad.mit.edu	37	15	24923472	24923472	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr15:24923472A>T	ENST00000329468.2	+	1	2932	c.2458A>T	c.(2458-2460)Att>Ttt	p.I820F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	820					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAAGCCTGCCATTGACACCAG	0.502																																						ENST00000329468.2																			0											c.(2458-2460)Att>Ttt		nuclear pore associated protein 1							143.0	137.0	139.0					15																	24923472		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923472A>T	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.2458A>T	15.37:g.24923472A>T	ENSP00000333735:p.Ile820Phe						p.I820F	NM_018958.2	NP_061831.2					1	2932	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2458A>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	2.915	-0.224414	0.06061	.	.	ENSG00000185823	ENST00000329468	T	0.06608	3.28	1.7	-3.41	0.04839	.	.	.	.	.	T	0.03095	0.0091	L	0.29908	0.895	0.09310	N	1	B	0.22983	0.078	B	0.13407	0.009	T	0.47459	-0.9116	9	0.07813	T	0.8	.	2.4943	0.04618	0.2839:0.0:0.3217:0.3944	.	820	Q9NZP6	CO002_HUMAN	F	820	ENSP00000333735:I820F	ENSP00000333735:I820F	I	+	1	0	C15orf2	22474565	0.010000	0.17322	0.000000	0.03702	0.004000	0.04260	-0.460000	0.06720	-1.660000	0.01486	-0.760000	0.03462	ATT		0.502	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		63	96	0	0	0	1	0	63	96				
ZC3HAV1	56829	broad.mit.edu	37	7	138764410	138764410	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:138764410G>T	ENST00000242351.5	-	4	1593	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P426H|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P426H	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	426					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|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 mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATTAAAAAGAGGGCCAGGCTG	0.448																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(1276-1278)cCt>cAt		zinc finger CCCH-type, antiviral 1							100.0	100.0	100.0					7																	138764410		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764410G>T	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1277C>A	7.37:g.138764410G>T	ENSP00000242351:p.Pro426His					ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P426H|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P426H	p.P426H	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			4	1593	-			426					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.1277C>A	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197563	0.38806	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.21543	3.07;3.05;2.0	4.49	2.63	0.31362	.	0.701101	0.13020	N	0.420175	T	0.29491	0.0735	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.66979	0.948;0.888	T	0.07501	-1.0769	10	0.72032	D	0.01	.	6.2088	0.20617	0.1026:0.1884:0.709:0.0	.	426;426	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	H	426;426;426;186	ENSP00000242351:P426H;ENSP00000418385:P426H;ENSP00000419855:P426H	ENSP00000242351:P426H	P	-	2	0	ZC3HAV1	138414950	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.689000	0.25437	0.591000	0.29711	-0.140000	0.14226	CCT		0.448	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		7	57	1	0	1.26484e-09	1	1.40894e-09	7	57				
TEX10	54881	broad.mit.edu	37	9	103092361	103092361	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr9:103092361C>T	ENST00000374902.4	-	6	1517	c.1341G>A	c.(1339-1341)gcG>gcA	p.A447A	TEX10_ENST00000537512.1_Silent_p.A382A|TEX10_ENST00000535814.1_Silent_p.A450A	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	447						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GCAAAGTTGACGCATTTGCCA	0.388																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1339-1341)gcG>gcA		testis expressed 10							140.0	132.0	135.0					9																	103092361		2203	4300	6503	SO:0001819	synonymous_variant	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103092361C>T	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1341G>A	9.37:g.103092361C>T						TEX10_ENST00000537512.1_Silent_p.A382A|TEX10_ENST00000535814.1_Silent_p.A450A	p.A447A	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	6	1517	-		Acute lymphoblastic leukemia(62;0.0527)	447					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	ENST00000374902.4	37	c.1341G>A	CCDS6748.1																																																																																				0.388	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		5	93	0	0	0	1	0	5	93				
CACNB2	783	broad.mit.edu	37	10	18823041	18823041	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:18823041T>A	ENST00000324631.7	+	11	1151	c.1091T>A	c.(1090-1092)cTt>cAt	p.L364H	CACNB2_ENST00000377319.3_Missense_Mutation_p.L271H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.L312H|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377315.4_Missense_Mutation_p.L316H|CACNB2_ENST00000396576.2_Missense_Mutation_p.L309H|CACNB2_ENST00000282343.8_Missense_Mutation_p.L336H|CACNB2_ENST00000352115.6_Missense_Mutation_p.L340H|CACNB2_ENST00000377329.4_Missense_Mutation_p.L310H|RP11-383B4.4_ENST00000433526.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	364				L -> V (in Ref. 5; AAD33729/AAD33730). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATTTTTGAACTTGCAAGAACA	0.373																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(925-927)cTt>cAt		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						92.0	93.0	93.0					10																	18823041		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18823041T>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1091T>A	10.37:g.18823041T>A	ENSP00000320025:p.Leu364His					CACNB2_ENST00000352115.6_Missense_Mutation_p.L340H|CACNB2_ENST00000377329.4_Missense_Mutation_p.L310H|CACNB2_ENST00000282343.8_Missense_Mutation_p.L336H|CACNB2_ENST00000377315.4_Missense_Mutation_p.L316H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.L271H|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Missense_Mutation_p.L364H|CACNB2_ENST00000377331.2_Missense_Mutation_p.L312H	p.L309H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			10	1427	+			364					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.926T>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488186	0.84854	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	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	5.54	4.39	0.52855	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.065270	0.64402	D	0.000007	T	0.70219	0.3199	M	0.91406	3.205	0.80722	D	1	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	D;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;0.998;0.999;0.997;0.998;0.999;0.999	T	0.76465	-0.2949	10	0.87932	D	0	-15.5287	12.7849	0.57498	0.0:0.0:0.1369:0.8631	.	278;336;316;286;310;320;271;312;336;326;340;364	B7Z1U5;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	364;340;336;312;309;271;310;316	ENSP00000320025:L364H;ENSP00000344474:L340H;ENSP00000282343:L336H;ENSP00000366548:L312H;ENSP00000379821:L309H;ENSP00000366536:L271H;ENSP00000366546:L310H;ENSP00000366532:L316H	ENSP00000282343:L336H	L	+	2	0	CACNB2	18863047	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.036000	0.88901	0.904000	0.36572	0.455000	0.32223	CTT		0.373	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		7	72	0	0	0	1	0	7	72				
GGNBP2	79893	broad.mit.edu	37	17	34945807	34945807	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr17:34945807G>A	ENST00000304718.4	+	14	2376	c.2060G>A	c.(2059-2061)tGt>tAt	p.C687Y	DHRS11_ENST00000251312.5_5'Flank|DHRS11_ENST00000590554.1_5'Flank	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	687					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGGCCCATTTGTAGTGGCTGG	0.388																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(2059-2061)tGt>tAt		gametogenetin binding protein 2							85.0	94.0	91.0					17																	34945807		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34945807G>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.2060G>A	17.37:g.34945807G>A	ENSP00000307617:p.Cys687Tyr						p.C687Y	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	14	2376	+		Breast(25;0.00957)|Ovarian(249;0.17)	687					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.2060G>A	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872830	0.72180	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.85	5.85	0.93711	.	0.213748	0.50627	D	0.000105	T	0.56232	0.1971	N	0.08118	0	0.80722	D	1	D	0.58620	0.983	P	0.56700	0.804	T	0.65479	-0.6158	9	0.87932	D	0	-8.8415	20.1775	0.98187	0.0:0.0:1.0:0.0	.	687	Q9H3C7	GGNB2_HUMAN	Y	687	.	ENSP00000307617:C687Y	C	+	2	0	GGNBP2	32019920	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.819000	0.91997	2.771000	0.95319	0.561000	0.74099	TGT		0.388	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		56	70	0	0	0	1	0	56	70				
RTEL1	51750	broad.mit.edu	37	20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	rs143317975		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:62324212G>A	ENST00000360203.5	+	29	3032	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000318100.4_Missense_Mutation_p.V903M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1_ENST00000370018.3_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	86.0	78.0	80.0		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_ENST00000370018.3_Missense_Mutation_p.V903M|RTEL1_ENST00000360203.5_Missense_Mutation_p.V903M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1-TNFRSF6B_ENST00000482936.1_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	117	0	0	0	1	0	3	117				
COCH	1690	broad.mit.edu	37	14	31348049	31348049	+	Missense_Mutation	SNP	G	G	A	rs188283330	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:31348049G>A	ENST00000396618.3	+	5	328	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	COCH_ENST00000382493.4_5'Flank|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000216361.4_Missense_Mutation_p.R91Q|COCH_ENST00000475087.1_Missense_Mutation_p.R91Q|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	91	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGACCTGTACGAGTCTATAGC	0.458													G|||	5	0.000998403	0.0008	0.0	5008	,	,		18309	0.004		0.0	False		,,,				2504	0.0					ENST00000396618.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(271-273)cGa>cAa		cochlin		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	106.0	111.0		272,272	5.8	0.2	14		111	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	COCH	NM_001135058.1,NM_004086.2	43,43	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	possibly-damaging,possibly-damaging	91/551,91/551	31348049	4,13002	2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31348049G>A		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.272G>A	14.37:g.31348049G>A	ENSP00000379862:p.Arg91Gln					COCH_ENST00000216361.4_Missense_Mutation_p.R91Q|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000475087.1_Missense_Mutation_p.R91Q	p.R91Q	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	5	328	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		91			LCCL.		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.272G>A	CCDS9640.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	18.62	3.663600	0.67700	2.27E-4	3.49E-4	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000556908	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.85	5.85	0.93711	LCCL (5);	0.213012	0.47852	D	0.000219	D	0.90882	0.7135	L	0.33624	1.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.87220	0.2253	10	0.16420	T	0.52	-9.0279	17.9364	0.89013	0.0:0.0:1.0:0.0	.	91;91	Q96IU6;O43405	.;COCH_HUMAN	Q	91;91;91;75	ENSP00000216361:R91Q;ENSP00000379862:R91Q;ENSP00000451528:R91Q;ENSP00000452541:R75Q	ENSP00000216361:R91Q	R	+	2	0	COCH	30417800	0.672000	0.27530	0.159000	0.22649	0.990000	0.78478	3.342000	0.52159	2.773000	0.95371	0.655000	0.94253	CGA		0.458	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		4	58	0	0	0	1	0	4	58				
ATP6V1E2	90423	broad.mit.edu	37	2	46739777	46739777	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:46739777T>A	ENST00000306448.4	-	2	1187	c.74A>T	c.(73-75)gAg>gTg	p.E25V	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E25V	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	25					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)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTGCTTTCTCATTGGCTTC	0.478																																						ENST00000306448.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(73-75)gAg>gTg		ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2							123.0	114.0	117.0					2																	46739777		2203	4300	6503	SO:0001583	missense	90423				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism	g.chr2:46739777T>A	BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"""ATPases / V-type"""	18125	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"""	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.74A>T	2.37:g.46739777T>A	ENSP00000304891:p.Glu25Val					ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E25V	p.E25V	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		2	1187	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	25						Missense_Mutation	SNP	ENST00000306448.4	37	c.74A>T	CCDS1826.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156846	0.78114	.	.	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	H	0.94698	3.57	0.80722	D	1	D	0.64830	0.994	D	0.64595	0.927	D	0.85183	0.1005	9	0.87932	D	0	-26.0504	9.7457	0.40446	0.0:0.0:0.0:1.0	.	25	Q96A05	VATE2_HUMAN	V	25	.	ENSP00000304891:E25V	E	-	2	0	ATP6V1E2	46593281	1.000000	0.71417	0.912000	0.35992	0.986000	0.74619	7.465000	0.80898	2.062000	0.61559	0.533000	0.62120	GAG		0.478	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1	NM_080653		5	57	0	0	0	1	0	5	57				
CD163	9332	broad.mit.edu	37	12	7647956	7647956	+	Missense_Mutation	SNP	G	G	A	rs201732077		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:7647956G>A	ENST00000359156.4	-	6	1343	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	CD163_ENST00000432237.2_Missense_Mutation_p.R381C|CD163_ENST00000396620.3_Missense_Mutation_p.R381C|CD163_ENST00000541972.1_Missense_Mutation_p.R369C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	381	SRCR 4. {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)	CCAGCACAGCGGCTGCCTCCA	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					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.(1141-1143)Cgc>Tgc		CD163 molecule							114.0	105.0	108.0					12																	7647956		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7647956G>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.1141C>T	12.37:g.7647956G>A	ENSP00000352071:p.Arg381Cys					CD163_ENST00000396620.3_Missense_Mutation_p.R381C|CD163_ENST00000541972.1_Missense_Mutation_p.R369C|CD163_ENST00000432237.2_Missense_Mutation_p.R381C	p.R381C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			6	1343	-			381			SRCR 4.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1141C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534237	0.64972	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.01	3.04	0.35103	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.391785	0.22041	N	0.065450	T	0.56804	0.2010	M	0.79475	2.455	0.33923	D	0.641106	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.65987	0.94;0.736;0.939	T	0.72083	-0.4397	10	0.72032	D	0.01	.	12.0923	0.53733	0.0:0.0:0.6933:0.3067	.	381;381;381	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	C	381;369;381;381	ENSP00000352071:R381C;ENSP00000444071:R369C;ENSP00000379863:R381C;ENSP00000403885:R381C	ENSP00000352071:R381C	R	-	1	0	CD163	7539223	0.057000	0.20700	0.998000	0.56505	0.997000	0.91878	1.657000	0.37366	1.467000	0.48044	0.650000	0.86243	CGC		0.488	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		7	62	0	0	0	1	0	7	62				
ARID1B	57492	broad.mit.edu	37	6	157527453	157527453	+	Silent	SNP	C	C	T	rs189662115	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr6:157527453C>T	ENST00000350026.5	+	19	5140	c.5139C>T	c.(5137-5139)gaC>gaT	p.D1713D	ARID1B_ENST00000275248.4_Silent_p.D1708D|ARID1B_ENST00000346085.5_Silent_p.D1726D|ARID1B_ENST00000367148.1_Silent_p.D1766D	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1713				D -> N (in Ref. 7; AAL76077). {ECO:0000305}.	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)		CCTTGGCAGACGATTCTGGGA	0.473													C|||	3	0.000599042	0.0008	0.0	5008	,	,		22614	0.0		0.002	False		,,,				2504	0.0					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.(5176-5178)gaC>gaT		AT rich interactive domain 1B (SWI1-like)		C	,	0,4406		0,0,2203	159.0	173.0	168.0		5139,5178	-10.0	0.0	6		168	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous,coding-synonymous	ARID1B	NM_017519.2,NM_020732.3	,	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	,	1713/2237,1726/2250	157527453	2,12996	2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157527453C>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.5139C>T	6.37:g.157527453C>T						ARID1B_ENST00000275248.4_Silent_p.D1708D|ARID1B_ENST00000367148.1_Silent_p.D1766D|ARID1B_ENST00000350026.5_Silent_p.D1713D	p.D1726D	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	5179	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1713					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.5178C>T	CCDS5251.2																																																																																				0.473	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	141	0	0	0	1	0	6	141				
ETNPPL	64850	broad.mit.edu	37	4	109668005	109668005	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:109668005C>A	ENST00000296486.3	-	10	1239	c.1085G>T	c.(1084-1086)gGc>gTc	p.G362V	ETNPPL_ENST00000512646.1_Missense_Mutation_p.G304V|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G356V|ETNPPL_ENST00000510706.1_Missense_Mutation_p.G322V	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	362						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										AAGGCCAATGCCCCTGCGAGA	0.428																																						ENST00000296486.3																			0											c.(1084-1086)gGc>gTc		ethanolamine-phosphate phospho-lyase							120.0	123.0	122.0					4																	109668005		2203	4300	6503	SO:0001583	missense	64850							g.chr4:109668005C>A	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1085G>T	4.37:g.109668005C>A	ENSP00000296486:p.Gly362Val					ETNPPL_ENST00000510706.1_Missense_Mutation_p.G322V|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G304V|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G356V	p.G362V	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					10	1239	-								B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.1085G>T	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550200	0.65311	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.02	5.02	0.67125	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.83321	0.5229	H	0.98407	4.225	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.99;0.994	D	0.90102	0.4185	9	.	.	.	-15.3665	16.8998	0.86110	0.0:1.0:0.0:0.0	.	304;356;362	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	V	362;356;304;322	ENSP00000296486:G362V;ENSP00000392269:G356V;ENSP00000427065:G304V;ENSP00000423240:G322V	.	G	-	2	0	AGXT2L1	109887454	1.000000	0.71417	0.935000	0.37517	0.350000	0.29205	7.417000	0.80156	2.485000	0.83878	0.650000	0.86243	GGC		0.428	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		10	79	1	0	2.17888e-05	1	2.33831e-05	10	79				
BTNL9	153579	broad.mit.edu	37	5	180486695	180486695	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:180486695G>T	ENST00000327705.9	+	11	1672	c.1441G>T	c.(1441-1443)Gcg>Tcg	p.A481S	BTNL9_ENST00000376842.3_Missense_Mutation_p.A482S	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	481	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCTCGGGCGCGCTCTGTGC	0.667																																						ENST00000327705.9																			0				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19						c.(1441-1443)Gcg>Tcg		butyrophilin-like 9							37.0	35.0	36.0					5																	180486695		2203	4300	6503	SO:0001583	missense	153579					integral to membrane		g.chr5:180486695G>T	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1441G>T	5.37:g.180486695G>T	ENSP00000330200:p.Ala481Ser					BTNL9_ENST00000376842.3_Missense_Mutation_p.A482S	p.A481S	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1672	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	481			B30.2/SPRY.		A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.1441G>T	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	g	9.256	1.042074	0.19748	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.60920	0.15;0.15	4.22	-7.0	0.01599	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.157270	0.06801	U	0.788764	T	0.31918	0.0812	N	0.20357	0.565	0.09310	N	0.999999	B	0.09022	0.002	B	0.17433	0.018	T	0.19386	-1.0307	10	0.14656	T	0.56	.	4.5035	0.11876	0.2159:0.4869:0.2028:0.0945	.	481	Q6UXG8	BTNL9_HUMAN	S	481;482	ENSP00000330200:A481S;ENSP00000366038:A482S	ENSP00000330200:A481S	A	+	1	0	BTNL9	180419301	0.000000	0.05858	0.011000	0.14972	0.021000	0.10359	-0.392000	0.07314	-1.343000	0.02219	0.449000	0.29647	GCG		0.667	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		3	34	1	0	0.00909568	1	0.00952881	3	34				
SERPINB2	5055	broad.mit.edu	37	18	61570299	61570299	+	Silent	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:61570299A>T	ENST00000299502.4	+	8	1088	c.1008A>T	c.(1006-1008)ggA>ggT	p.G336G	SERPINB2_ENST00000457692.1_Silent_p.G336G	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	336					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)	TCAACAAGGGACGGGCCAATT	0.478																																						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.(1006-1008)ggA>ggT		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						133.0	109.0	117.0					18																	61570299		2203	4300	6503	SO:0001819	synonymous_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61570299A>T	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.1008A>T	18.37:g.61570299A>T						SERPINB2_ENST00000299502.4_Silent_p.G336G	p.G336G	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			9	1341	+		Esophageal squamous(42;0.131)	336					Q96E96	Silent	SNP	ENST00000299502.4	37	c.1008A>T	CCDS11989.1																																																																																				0.478	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		4	70	0	0	0	1	0	4	70				
TTC8	123016	broad.mit.edu	37	14	89307828	89307828	+	Silent	SNP	A	A	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:89307828A>G	ENST00000345383.5	+	5	603	c.519A>G	c.(517-519)acA>acG	p.T173T	TTC8_ENST00000358622.5_5'Flank|Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000338104.6_Silent_p.T173T|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000380656.2_Silent_p.T183T|TTC8_ENST00000354441.6_Intron	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	183					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						TGAATTTAACAAAGTATTCCC	0.318																																						ENST00000338104.6																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(517-519)acA>acG		tetratricopeptide repeat domain 8							70.0	73.0	72.0					14																	89307828		2202	4296	6498	SO:0001819	synonymous_variant	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89307828A>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.519A>G	14.37:g.89307828A>G						TTC8_ENST00000380656.2_Silent_p.T183T|TTC8_ENST00000345383.5_Silent_p.T173T|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000536576.1_Intron	p.T173T			Q8TAM2	TTC8_HUMAN			5	571	+			183					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Silent	SNP	ENST00000345383.5	37	c.519A>G	CCDS9885.1																																																																																				0.318	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		6	55	0	0	0	1	0	6	55				
KCNN4	3783	broad.mit.edu	37	19	44271798	44271798	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:44271798T>G	ENST00000262888.3	-	8	1576	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	394					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)	GTCAATCTGTTTCTCCAGGGC	0.617																																						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.(1180-1182)aAa>aCa		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						88.0	87.0	87.0					19																	44271798		2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44271798T>G	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.1181A>C	19.37:g.44271798T>G	ENSP00000262888:p.Lys394Thr						p.K394T	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			8	1576	-		Prostate(69;0.0352)	394					Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.1181A>C	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379191	0.61735	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	D	0.99863	-7.27	3.87	3.87	0.44632	.	0.116625	0.56097	D	0.000033	D	0.99641	0.9868	M	0.72118	2.19	0.39727	D	0.971557	D;D	0.59357	0.985;0.979	P;P	0.55055	0.767;0.747	D	0.97368	0.9974	10	0.48119	T	0.1	-25.1459	11.2923	0.49258	0.0:0.0:0.0:1.0	.	288;394	D1MQ10;O15554	.;KCNN4_HUMAN	T	394;262	ENSP00000262888:K394T	ENSP00000262888:K394T	K	-	2	0	KCNN4	48963638	1.000000	0.71417	0.988000	0.46212	0.736000	0.42039	3.810000	0.55613	1.989000	0.58080	0.528000	0.53228	AAA		0.617	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		4	138	0	0	0	1	0	4	138				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	38	0	0	0	1	0	3	38				
EEF1A2	1917	broad.mit.edu	37	20	62120459	62120459	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:62120459G>A	ENST00000298049.7	-	6	1146	c.1076C>T	c.(1075-1077)cCg>cTg	p.P359L	EEF1A2_ENST00000217182.3_Missense_Mutation_p.P359L			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	359					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)			GTCGATGACCGGGGAGTAGCC	0.642																																						ENST00000217182.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(1075-1077)cCg>cTg		eukaryotic translation elongation factor 1 alpha 2							50.0	51.0	51.0					20																	62120459		2188	4283	6471	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62120459G>A	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.1076C>T	20.37:g.62120459G>A	ENSP00000298049:p.Pro359Leu					EEF1A2_ENST00000298049.7_Missense_Mutation_p.P359L	p.P359L	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		7	1241	-	all_cancers(38;9.45e-12)		359					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.1076C>T	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263890	0.80358	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.48201	0.82;0.82	3.14	3.14	0.36123	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.070231	0.56097	N	0.000025	T	0.77498	0.4139	H	0.99273	4.495	0.80722	D	1	D	0.55385	0.971	P	0.56514	0.8	D	0.87845	0.2654	10	0.72032	D	0.01	-4.9946	14.5998	0.68432	0.0:0.0:1.0:0.0	.	359	Q05639	EF1A2_HUMAN	L	359	ENSP00000298049:P359L;ENSP00000217182:P359L	ENSP00000217182:P359L	P	-	2	0	EEF1A2	61590903	1.000000	0.71417	0.664000	0.29753	0.706000	0.40770	9.323000	0.96364	1.450000	0.47717	0.486000	0.48141	CCG		0.642	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		3	55	0	0	0	1	0	3	55				
GC	2638	broad.mit.edu	37	4	72623867	72623867	+	Silent	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:72623867T>C	ENST00000273951.8	-	7	1066	c.723A>G	c.(721-723)caA>caG	p.Q241Q	GC_ENST00000504199.1_Silent_p.Q260Q|GC_ENST00000513476.1_Silent_p.Q241Q|RNA5SP163_ENST00000410304.1_RNA|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	241	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TAGGCACTTTTTGGGCTAACT	0.388																																						ENST00000273951.8																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(721-723)caA>caG		group-specific component (vitamin D binding protein)	Cholecalciferol(DB00169)						127.0	126.0	126.0					4																	72623867		2203	4300	6503	SO:0001819	synonymous_variant	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72623867T>C	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.723A>G	4.37:g.72623867T>C						GC_ENST00000513476.1_Silent_p.Q241Q|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.Q260Q	p.Q241Q	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	Lung(101;0.148)		7	1066	-		all_hematologic(202;0.107)	241			Albumin 2.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Silent	SNP	ENST00000273951.8	37	c.723A>G	CCDS3550.1																																																																																				0.388	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			52	64	0	0	0	1	0	52	64				
BMP2K	55589	broad.mit.edu	37	4	79832021	79832021	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:79832021G>A	ENST00000335016.5	+	16	2486	c.2320G>A	c.(2320-2322)Gat>Aat	p.D774N	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	774					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						AGATTTTAATGATGATGATAC	0.413																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(2320-2322)Gat>Aat		BMP2 inducible kinase							54.0	51.0	52.0					4																	79832021		1879	4094	5973	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79832021G>A	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.2320G>A	4.37:g.79832021G>A	ENSP00000334836:p.Asp774Asn					PAQR3_ENST00000295462.3_Intron	p.D774N	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			16	2486	+			774					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.2320G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207239	0.39003	.	.	ENSG00000138756	ENST00000335016	T	0.76709	-1.04	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000012	D	0.87430	0.6175	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87526	0.2449	10	0.66056	D	0.02	-23.4612	19.7695	0.96357	0.0:0.0:1.0:0.0	.	774	Q9NSY1	BMP2K_HUMAN	N	774	ENSP00000334836:D774N	ENSP00000334836:D774N	D	+	1	0	BMP2K	80051045	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	6.674000	0.74487	2.688000	0.91661	0.555000	0.69702	GAT		0.413	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		20	24	0	0	0	1	0	20	24				
TTC17	55761	broad.mit.edu	37	11	43436141	43436141	+	Splice_Site	SNP	C	C	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:43436141C>G	ENST00000039989.4	+	16	2080	c.2066C>G	c.(2065-2067)cCt>cGt	p.P689R	TTC17_ENST00000299240.6_Splice_Site_p.P689R|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	689					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTTTTCAGCCTCTGACCTTT	0.383																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.e16-1		tetratricopeptide repeat domain 17							91.0	103.0	99.0					11																	43436141		2203	4300	6503	SO:0001630	splice_region_variant	55761						binding	g.chr11:43436141C>G	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2065-1C>G	11.37:g.43436141C>G						TTC17_ENST00000299240.6_Splice_Site_p.P689_splice|TTC17_ENST00000526774.1_3'UTR	p.P689_splice	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			16	2080	+			689					G3XAB3|Q8NEC0	Splice_Site	SNP	ENST00000039989.4	37	c.2064_splice	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268708	0.80469	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.64085	-0.08;-0.08	5.6	5.6	0.85130	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049157	0.85682	D	0.000000	T	0.82125	0.4969	M	0.85945	2.785	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	0.82222	-0.0564	10	0.44086	T	0.13	-11.3095	19.6138	0.95622	0.0:1.0:0.0:0.0	.	689;689;689	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	R	689	ENSP00000299240:P689R;ENSP00000039989:P689R	ENSP00000039989:P689R	P	+	2	0	TTC17	43392717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.223000	0.72257	2.644000	0.89710	0.563000	0.77884	CCT		0.383	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	Missense_Mutation	14	118	0	0	0	1	0	14	118				
TUBA4A	7277	broad.mit.edu	37	2	220116300	220116300	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:220116300C>A	ENST00000248437.4	-	3	535	c.362G>T	c.(361-363)cGg>cTg	p.R121L	TUBA4A_ENST00000392088.2_Missense_Mutation_p.R106L|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	121					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|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)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	CTTGCGGATCCGATCCAGCAC	0.498																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(316-318)cGg>cTg		tubulin, alpha 4a							113.0	98.0	103.0					2																	220116300		2203	4300	6503	SO:0001583	missense	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116300C>A	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.362G>T	2.37:g.220116300C>A	ENSP00000248437:p.Arg121Leu					TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Missense_Mutation_p.R121L	p.R106L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	872	-		Renal(207;0.0474)	121					A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	c.317G>T	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849575	0.71603	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	M	0.90977	3.165	0.80722	D	1	P	0.38335	0.627	P	0.48840	0.592	D	0.85693	0.1308	10	0.87932	D	0	.	18.6248	0.91333	0.0:1.0:0.0:0.0	.	121	P68366	TBA4A_HUMAN	L	121;106;106;144;106	ENSP00000248437:R121L;ENSP00000375938:R106L;ENSP00000408194:R106L;ENSP00000416992:R144L;ENSP00000396061:R106L	ENSP00000248437:R121L	R	-	2	0	TUBA4A	219824544	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.564000	0.82326	2.639000	0.89480	0.655000	0.94253	CGG		0.498	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		3	96	1	0	1	1	1	3	96				
SEZ6	124925	broad.mit.edu	37	17	27286418	27286418	+	Missense_Mutation	SNP	C	C	T	rs371753097		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr17:27286418C>T	ENST00000317338.12	-	9	2272	c.1844G>A	c.(1843-1845)cGt>cAt	p.R615H	SEZ6_ENST00000442608.3_Missense_Mutation_p.R615H|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R615H|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	615	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)			ATCCTGCCCACGACCGTAGGG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17609	0.001		0.0	False		,,,				2504	0.0					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.(1843-1845)cGt>cAt		seizure related 6 homolog (mouse)		C	HIS/ARG,HIS/ARG	0,4264		0,0,2132	80.0	86.0	84.0		1844,1844	4.1	1.0	17		84	1,8493		0,1,4246	no	missense,missense	SEZ6	NM_001098635.1,NM_178860.4	29,29	0,1,6378	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging,probably-damaging	615/994,615/995	27286418	1,12757	2132	4247	6379	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27286418C>T	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.1844G>A	17.37:g.27286418C>T	ENSP00000312942:p.Arg615His					PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R615H|SEZ6_ENST00000442608.3_Missense_Mutation_p.R615H	p.R615H			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)		9	2272	-	Lung NSC(42;0.0137)		615			CUB 2.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.1844G>A	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309544	0.60414	0.0	1.18E-4	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T	0.34275	1.37;1.37	5.25	4.07	0.47477	CUB (5);	0.272209	0.30401	N	0.009710	T	0.24624	0.0597	N	0.11284	0.12	0.80722	D	1	D;P	0.69078	0.997;0.587	P;B	0.51582	0.674;0.182	T	0.01566	-1.1323	10	0.48119	T	0.1	.	5.4971	0.16809	0.0:0.7639:0.0:0.2361	.	615;615	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	H	615;615;490;615	ENSP00000403784:R615H;ENSP00000353440:R615H	ENSP00000312942:R490H	R	-	2	0	SEZ6	24310544	1.000000	0.71417	0.998000	0.56505	0.219000	0.24729	4.144000	0.58057	2.611000	0.88343	0.655000	0.94253	CGT		0.622	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			4	76	0	0	0	1	0	4	76				
KRTAP4-12	83755	broad.mit.edu	37	17	39280114	39280114	+	Silent	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr17:39280114T>C	ENST00000394014.1	-	1	305	c.261A>G	c.(259-261)agA>agG	p.R87R		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	87	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)		p.R87R(3)		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	0.677																																						ENST00000394014.1																			3	Substitution - coding silent(3)	p.R87R(3)	large_intestine(1)|prostate(1)|endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(259-261)agA>agG		keratin associated protein 4-12							25.0	35.0	31.0					17																	39280114		2091	4122	6213	SO:0001819	synonymous_variant	83755					keratin filament		g.chr17:39280114T>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.261A>G	17.37:g.39280114T>C							p.R87R	NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	305	-		Breast(137;0.000496)	87			31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		A3KMC5|Q495I0	Silent	SNP	ENST00000394014.1	37	c.261A>G	CCDS32649.1																																																																																				0.677	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			4	152	0	0	0	1	0	4	152				
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	lincRNA	SNP	G	G	T	rs201713470	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373																																						ENST00000454645.1																			0																																																			0							g.chr9:41962602G>T																													9.37:g.41962602G>T								NR_003670.1						0	902	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.373	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			5	36	1	0	3.03607e-14	1	3.4698e-14	5	36				
PLEKHA6	22874	broad.mit.edu	37	1	204216548	204216548	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:204216548G>T	ENST00000272203.3	-	13	2181	c.1865C>A	c.(1864-1866)tCt>tAt	p.S622Y	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.S642Y	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	622										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)			AGAGACCTCAGACTCGAGGTG	0.562																																						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.(1864-1866)tCt>tAt		pleckstrin homology domain containing, family A member 6							94.0	72.0	79.0					1																	204216548		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204216548G>T	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.1865C>A	1.37:g.204216548G>T	ENSP00000272203:p.Ser622Tyr					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.S642Y	p.S622Y	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)		13	2181	-	all_cancers(21;0.0222)|Breast(84;0.179)		622					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.1865C>A	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233716	0.39498	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.32272	1.46;1.46	5.1	3.02	0.34903	.	0.652897	0.15238	N	0.273033	T	0.16811	0.0404	L	0.29908	0.895	0.24115	N	0.995824	P	0.44195	0.828	B	0.37833	0.259	T	0.05716	-1.0868	10	0.08599	T	0.76	-1.9646	7.8495	0.29446	0.1003:0.3735:0.5262:0.0	.	622	Q9Y2H5	PKHA6_HUMAN	Y	622;642	ENSP00000272203:S622Y;ENSP00000402046:S642Y	ENSP00000272203:S622Y	S	-	2	0	PLEKHA6	202483171	0.998000	0.40836	0.038000	0.18304	0.616000	0.37450	3.468000	0.53086	1.273000	0.44346	0.655000	0.94253	TCT		0.562	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		15	28	1	0	3.41278e-10	1	3.85032e-10	15	28				
C10orf90	118611	broad.mit.edu	37	10	128192655	128192655	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:128192655C>T	ENST00000284694.7	-	3	1234	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.E325K|C10orf90_ENST00000454341.1_Missense_Mutation_p.E372K|C10orf90_ENST00000544758.1_Missense_Mutation_p.E469K|C10orf90_ENST00000392694.1_Missense_Mutation_p.E325K	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	372					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)		TTTGCCAATTCTGTGTTTTCC	0.478											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.(1114-1116)Gaa>Aaa		chromosome 10 open reading frame 90							148.0	127.0	134.0					10																	128192655		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128192655C>T	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.1114G>A	10.37:g.128192655C>T	ENSP00000284694:p.Glu372Lys		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.E325K|C10orf90_ENST00000544758.1_Missense_Mutation_p.E469K|C10orf90_ENST00000454341.1_Missense_Mutation_p.E372K|C10orf90_ENST00000356858.3_Missense_Mutation_p.E325K	p.E372K	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	1234	-		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)	372					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1114G>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726965	0.30593	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.23552	2.21;2.22;2.22;2.21;1.9	5.16	3.29	0.37713	.	0.494269	0.18699	N	0.133640	T	0.17492	0.0420	L	0.31664	0.95	0.09310	N	1	B;B;B;B;B	0.32653	0.176;0.379;0.379;0.176;0.176	B;B;B;B;B	0.32928	0.054;0.155;0.091;0.054;0.054	T	0.13575	-1.0504	10	0.33940	T	0.23	-3.6331	8.6588	0.34079	0.0:0.8228:0.0:0.1772	.	469;469;325;372;372	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	K	325;372;372;469;372;325;325	ENSP00000284694:E372K;ENSP00000398786:E372K;ENSP00000444369:E469K;ENSP00000405995:E372K;ENSP00000376459:E325K	ENSP00000284694:E372K	E	-	1	0	C10orf90	128182645	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.347000	0.33975	0.736000	0.32559	0.650000	0.86243	GAA		0.478	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		23	44	0	0	0	1	0	23	44				
SCUBE2	57758	broad.mit.edu	37	11	9072168	9072168	+	Nonsense_Mutation	SNP	G	G	A	rs139599907		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:9072168G>A	ENST00000309263.3	-	13	1609	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	SCUBE2_ENST00000457346.2_Nonsense_Mutation_p.R542*|SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Nonsense_Mutation_p.R542*			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	513						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGTGCTGGTCGCAGACCCTCG	0.532																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1624-1626)Cga>Tga		signal peptide, CUB domain, EGF-like 2		G	,stop/ARG	2,4400	4.2+/-10.8	0,2,2199	131.0	117.0	122.0		,1624	5.4	1.0	11	dbSNP_134	122	3,8589	3.0+/-9.4	0,3,4293	yes	intron,stop-gained	SCUBE2	NM_001170690.1,NM_020974.2	,	0,5,6492	AA,AG,GG		0.0349,0.0454,0.0385	,	,542/972	9072168	5,12989	2201	4296	6497	SO:0001587	stop_gained	57758					extracellular region	calcium ion binding	g.chr11:9072168G>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1537C>T	11.37:g.9072168G>A	ENSP00000310658:p.Arg513*					SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Nonsense_Mutation_p.R513*|SCUBE2_ENST00000520467.1_Nonsense_Mutation_p.R542*	p.R542*			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	14	1698	-			513					Q2NKQ8|Q6ZWI1	Nonsense_Mutation	SNP	ENST00000309263.3	37	c.1624C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.901201	0.98551	4.54E-4	3.49E-4	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000520467	.	.	.	5.36	5.36	0.76844	.	0.467635	0.23275	N	0.049974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0725	0.64868	0.0:0.1621:0.8379:0.0	.	.	.	.	X	542;513;542	.	ENSP00000310658:R513X	R	-	1	2	SCUBE2	9028744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.618000	0.46393	2.516000	0.84829	0.650000	0.86243	CGA		0.532	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		4	95	0	0	0	1	0	4	95				
NRG1	3084	broad.mit.edu	37	8	32620816	32620816	+	Intron	SNP	T	T	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:32620816T>A	ENST00000405005.3	+	12	1268				NRG1_ENST00000539990.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Intron|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000521670.1_Missense_Mutation_p.L450H|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_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)		GCAACTCATCTTAGATCTTCT	0.403																																						ENST00000521670.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1348-1350)cTt>cAt		neuregulin 1							213.0	196.0	201.0					8																	32620816		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.chr8:32620816T>A	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.1269-450T>A	8.37:g.32620816T>A						NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287840.5_Intron	p.L450H			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	12	1457	+		Breast(100;0.203)	0					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.1349T>A	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.331035	0.41297	.	.	ENSG00000157168	ENST00000521670	T	0.73363	-0.74	5.72	3.41	0.39046	.	.	.	.	.	T	0.61862	0.2381	N	0.08118	0	0.80722	D	1	D;D;D	0.63046	0.977;0.986;0.992	P;P;P	0.52909	0.52;0.52;0.713	T	0.65253	-0.6213	9	0.87932	D	0	.	6.9512	0.24546	0.0:0.1526:0.0:0.8474	.	296;446;450	B7Z1D7;B0FYA9;Q02297-3	.;.;.	H	450	ENSP00000428828:L450H	ENSP00000428828:L450H	L	+	2	0	NRG1	32740358	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.395000	0.34520	2.182000	0.69389	0.528000	0.53228	CTT		0.403	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			4	143	0	0	0	1	0	4	143				
SOX14	8403	broad.mit.edu	37	3	137483867	137483867	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:137483867C>T	ENST00000306087.1	+	1	289	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	81					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						CCGACCTCGGCGCAAGCCCAA	0.632																																						ENST00000306087.1																			0				large_intestine(2)|lung(12)	14						c.(241-243)Cgc>Tgc		SRY (sex determining region Y)-box 14							133.0	145.0	141.0					3																	137483867		2203	4300	6503	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483867C>T	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.241C>T	3.37:g.137483867C>T	ENSP00000305343:p.Arg81Cys						p.R81C	NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN			1	289	+			81					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.241C>T	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181198	0.78677	.	.	ENSG00000168875	ENST00000306087	D	0.92348	-3.02	4.98	4.98	0.66077	High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95726	0.8770	10	0.87932	D	0	.	18.0345	0.89296	0.0:1.0:0.0:0.0	.	81	O95416	SOX14_HUMAN	C	81	ENSP00000305343:R81C	ENSP00000305343:R81C	R	+	1	0	SOX14	138966557	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.893000	0.56243	2.595000	0.87683	0.511000	0.50034	CGC		0.632	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		4	43	0	0	0	1	0	4	43				
MPV17	4358	broad.mit.edu	37	2	27535939	27535939	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:27535939C>T	ENST00000380044.1	-	3	163	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MPV17_ENST00000402310.1_Silent_p.Q36Q|MPV17_ENST00000405076.1_Silent_p.Q36Q|MPV17_ENST00000403262.2_Silent_p.Q36Q|MPV17_ENST00000233545.2_Silent_p.Q36Q|MPV17_ENST00000405983.1_Silent_p.Q51Q|MPV17_ENST00000402722.1_Missense_Mutation_p.A25T|MPV17_ENST00000357186.6_Intron	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	36					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)					TCTCCACCAGCTGCTGTGAGA	0.597																																						ENST00000402722.1																			0				lung(4)	4						c.(73-75)Gct>Act		MpV17 mitochondrial inner membrane protein							95.0	96.0	96.0					2																	27535939		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.chr2:27535939C>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.108G>A	2.37:g.27535939C>T						MPV17_ENST00000380044.1_Silent_p.Q36Q|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000402310.1_Silent_p.Q36Q|MPV17_ENST00000403262.2_Silent_p.Q36Q|MPV17_ENST00000233545.2_Silent_p.Q36Q|MPV17_ENST00000405983.1_Silent_p.Q51Q|MPV17_ENST00000405076.1_Silent_p.Q36Q	p.A25T			P39210	MPV17_HUMAN			3	107	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		25					D6W555|Q53SY2|Q96B08	Missense_Mutation	SNP	ENST00000380044.1	37	c.73G>A	CCDS1748.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.54|14.54	2.567249|2.567249	0.45694|0.45694	.|.	.|.	ENSG00000115204|ENSG00000115204	ENST00000402722|ENST00000430991	T|.	0.79454|.	-1.27|.	5.37|5.37	3.6|3.6	0.41247|0.41247	.|.	.|.	.|.	.|.	.|.	T|T	0.58047|0.58047	0.2095|0.2095	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53107|0.53107	-0.8485|-0.8485	6|4	0.87932|.	D|.	0|.	.|.	8.0599|8.0599	0.30627|0.30627	0.0:0.8201:0.0:0.1799|0.0:0.8201:0.0:0.1799	.|.	.|.	.|.	.|.	T|N	25|13	ENSP00000386000:A25T|.	ENSP00000386000:A25T|.	A|S	-|-	1|2	0|0	MPV17|MPV17	27389443|27389443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.990000|1.990000	0.40717|0.40717	0.854000|0.854000	0.35336|0.35336	0.609000|0.609000	0.83330|0.83330	GCT|AGC		0.597	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		9	111	0	0	0	1	0	9	111				
CLEC1A	51267	broad.mit.edu	37	12	10224015	10224015	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:10224015G>A	ENST00000315330.4	-	6	822	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	CLEC1A_ENST00000457018.2_Missense_Mutation_p.R221C|CLEC1A_ENST00000420265.2_Missense_Mutation_p.R162C	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	254	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CAGACACAACGCTTCAATTCT	0.483																																						ENST00000315330.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(760-762)Cgt>Tgt		C-type lectin domain family 1, member A							202.0	179.0	187.0					12																	10224015		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10224015G>A	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.760C>T	12.37:g.10224015G>A	ENSP00000326407:p.Arg254Cys					CLEC1A_ENST00000420265.2_Missense_Mutation_p.R162C|CLEC1A_ENST00000457018.2_Missense_Mutation_p.R221C	p.R254C	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN			6	822	-			254			C-type lectin.		Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.760C>T	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319627	0.41096	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.20069	2.1;2.1;2.1	5.33	3.44	0.39384	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.143817	0.32175	N	0.006462	T	0.36690	0.0976	L	0.61387	1.9	0.42668	D	0.9935	D;D;P	0.89917	1.0;1.0;0.911	D;D;P	0.76071	0.987;0.976;0.519	T	0.07139	-1.0788	10	0.39692	T	0.17	.	6.2137	0.20644	0.0959:0.0:0.7127:0.1913	.	162;221;254	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	C	254;221;162	ENSP00000326407:R254C;ENSP00000415048:R221C;ENSP00000417010:R162C	ENSP00000326407:R254C	R	-	1	0	CLEC1A	10115282	0.973000	0.33851	0.940000	0.37924	0.120000	0.20174	1.062000	0.30555	0.568000	0.29311	0.563000	0.77884	CGT		0.483	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		11	181	0	0	0	1	0	11	181				
NWD1	284434	broad.mit.edu	37	19	16872810	16872810	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:16872810G>A	ENST00000552788.1	+	6	1994	c.1994G>A	c.(1993-1995)cGt>cAt	p.R665H	NWD1_ENST00000549814.1_Missense_Mutation_p.R665H|NWD1_ENST00000523826.1_Missense_Mutation_p.R459H|NWD1_ENST00000339803.6_Missense_Mutation_p.R530H|NWD1_ENST00000379808.3_Missense_Mutation_p.R665H|NWD1_ENST00000524140.2_Missense_Mutation_p.R665H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	665							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						GAGGTGGTCCGTGAGCGCTAC	0.572																																						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.(1993-1995)cGt>cAt		NACHT and WD repeat domain containing 1							98.0	75.0	83.0					19																	16872810		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16872810G>A	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.1994G>A	19.37:g.16872810G>A	ENSP00000447224:p.Arg665His					NWD1_ENST00000379808.3_Missense_Mutation_p.R665H|NWD1_ENST00000339803.6_Missense_Mutation_p.R530H|NWD1_ENST00000552788.1_Missense_Mutation_p.R665H|NWD1_ENST00000523826.1_Missense_Mutation_p.R459H|NWD1_ENST00000549814.1_Missense_Mutation_p.R665H	p.R665H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			8	2412	+			665					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1994G>A		.	.	.	.	.	.	.	.	.	.	G	9.868	1.198176	0.22037	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.58797	0.32;0.37;0.32;0.31;0.38;0.37	4.35	-6.43	0.01926	.	1.979650	0.02178	N	0.060246	T	0.49813	0.1579	L	0.42686	1.345	0.09310	N	1	B;D;P	0.59767	0.0;0.986;0.947	B;P;B	0.46076	0.001;0.503;0.226	T	0.58042	-0.7706	10	0.44086	T	0.13	1.0874	7.7626	0.28961	0.6831:0.1416:0.1754:0.0	.	665;665;530	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	H	530;665;665;665;459;665;530	ENSP00000428579:R665H;ENSP00000447548:R665H;ENSP00000369136:R665H;ENSP00000428955:R459H;ENSP00000447224:R665H;ENSP00000340159:R530H	ENSP00000340159:R530H	R	+	2	0	NWD1	16733810	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	-0.116000	0.10724	-0.957000	0.03627	-0.243000	0.11985	CGT		0.572	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		22	34	0	0	0	1	0	22	34				
EGR4	1961	broad.mit.edu	37	2	73518810	73518810	+	Silent	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:73518810G>A	ENST00000545030.1	-	2	1619	c.1545C>T	c.(1543-1545)tgC>tgT	p.C515C	EGR4_ENST00000436467.2_Silent_p.C412C	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	515					cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|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)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCAGATGCGGCACTGGAAGG	0.662																																						ENST00000436467.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1234-1236)tgC>tgT		early growth response 4							58.0	55.0	56.0					2																	73518810		2203	4299	6502	SO:0001819	synonymous_variant	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73518810G>A		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1545C>T	2.37:g.73518810G>A						EGR4_ENST00000545030.1_Silent_p.C515C	p.C412C			B7ZKU3	B7ZKU3_HUMAN			2	1623	-			411					B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	c.1236C>T	CCDS1925.2																																																																																				0.662	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		3	96	0	0	0	1	0	3	96				
DUSP8	1850	broad.mit.edu	37	11	1586987	1586987	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:1586987G>A	ENST00000397374.3	-	2	197	c.70C>T	c.(70-72)Cct>Tct	p.P24S	DUSP8_ENST00000331588.4_Missense_Mutation_p.P24S	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	24	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|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)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GGCCCCCCAGGCCCGCCCCGC	0.662																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(70-72)Cct>Tct		dual specificity phosphatase 8							46.0	58.0	54.0					11																	1586987		2183	4268	6451	SO:0001583	missense	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1586987G>A		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.70C>T	11.37:g.1586987G>A	ENSP00000380530:p.Pro24Ser					DUSP8_ENST00000331588.4_Missense_Mutation_p.P24S	p.P24S	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	2	197	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	24			Rhodanese.		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.70C>T	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	G	4.356	0.065504	0.08388	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.23348	1.91;1.91	3.76	2.75	0.32379	Rhodanese-like (5);	0.279303	0.24240	U	0.040269	T	0.11879	0.0289	N	0.16368	0.405	0.35928	D	0.83231	B	0.26708	0.157	B	0.29663	0.105	T	0.13602	-1.0503	10	0.07030	T	0.85	.	6.733	0.23393	0.0:0.3134:0.5337:0.1528	.	24	Q13202	DUS8_HUMAN	S	24	ENSP00000380530:P24S;ENSP00000329539:P24S	ENSP00000329539:P24S	P	-	1	0	DUSP8	1543563	0.037000	0.19845	0.995000	0.50966	0.458000	0.32498	0.175000	0.16762	2.113000	0.64589	0.561000	0.74099	CCT		0.662	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		31	203	0	0	0	1	0	31	203				
ANKAR	150709	broad.mit.edu	37	2	190554476	190554476	+	Nonsense_Mutation	SNP	T	T	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:190554476T>G	ENST00000520309.1	+	3	913	c.825T>G	c.(823-825)taT>taG	p.Y275*	ANKAR_ENST00000313581.4_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.Y204*|ANKAR_ENST00000281412.6_Nonsense_Mutation_p.Y39*|ANKAR_ENST00000438402.2_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000461516.1_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	275						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)			CTATAAAATATAATCAGGATT	0.274																																						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.(823-825)taT>taG		ankyrin and armadillo repeat containing							53.0	63.0	60.0					2																	190554476		2202	4290	6492	SO:0001587	stop_gained	150709					integral to membrane	binding	g.chr2:190554476T>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.825T>G	2.37:g.190554476T>G	ENSP00000427882:p.Tyr275*					ANKAR_ENST00000281412.6_Nonsense_Mutation_p.Y39*|ANKAR_ENST00000313581.4_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000438402.2_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.Y204*|ANKAR_ENST00000461516.1_3'UTR	p.Y275*	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)		3	913	+			275					Q3ZCS6|Q4G0M2|Q6ZU02	Nonsense_Mutation	SNP	ENST00000520309.1	37	c.825T>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	T	38	7.057921	0.98032	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	.	.	.	5.97	-1.68	0.08212	.	0.849073	0.10259	N	0.696210	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3486	7.9496	0.30006	0.0:0.4386:0.1246:0.4369	.	.	.	.	X	275;275;275;204;39	.	ENSP00000281412:Y39X	Y	+	3	2	ANKAR	190262721	0.168000	0.22989	0.043000	0.18650	0.563000	0.35712	0.485000	0.22324	-0.276000	0.09206	-0.250000	0.11733	TAT		0.274	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		4	55	0	0	0	1	0	4	55				
IRAK4	51135	broad.mit.edu	37	12	44166061	44166061	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:44166061A>T	ENST00000448290.2	+	4	457	c.386A>T	c.(385-387)gAc>gTc	p.D129V	IRAK4_ENST00000440781.2_Missense_Mutation_p.D5V|IRAK4_ENST00000551736.1_Missense_Mutation_p.D129V|IRAK4_ENST00000431837.1_Missense_Mutation_p.D5V	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	129					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)		CCTTTCTGTGACAAAGACAGG	0.373																																						ENST00000431837.1																			0											c.(13-15)gAc>gTc		interleukin-1 receptor-associated kinase 4							110.0	99.0	103.0					12																	44166061		2203	4300	6503	SO:0001583	missense	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.chr12:44166061A>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.386A>T	12.37:g.44166061A>T	ENSP00000390651:p.Asp129Val					IRAK4_ENST00000440781.2_Missense_Mutation_p.D5V|IRAK4_ENST00000448290.2_Missense_Mutation_p.D129V|IRAK4_ENST00000551736.1_Missense_Mutation_p.D129V	p.D5V	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	3	322	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	129		I -> V (in dbSNP:rs56312115).			Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.14A>T	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.436345	0.25813	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T;T	0.77358	-1.07;-1.07;-1.09;-1.09	5.39	-5.95	0.02241	.	1.404710	0.04224	N	0.334071	T	0.70657	0.3249	L	0.36672	1.1	0.09310	N	1	B	0.20052	0.041	B	0.30401	0.115	T	0.57946	-0.7723	10	0.29301	T	0.29	2.0483	14.6349	0.68682	0.8206:0.0:0.1794:0.0	.	129	Q9NWZ3	IRAK4_HUMAN	V	5;5;129;129;129	ENSP00000408734:D5V;ENSP00000390327:D5V;ENSP00000390651:D129V;ENSP00000446490:D129V	ENSP00000349096:D129V	D	+	2	0	IRAK4	42452328	0.008000	0.16893	0.000000	0.03702	0.006000	0.05464	-0.259000	0.08721	-0.974000	0.03550	-0.912000	0.02778	GAC		0.373	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			3	58	0	0	0	1	0	3	58				
TARS	6897	broad.mit.edu	37	5	33461117	33461117	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:33461117G>A	ENST00000265112.3	+	12	1672	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	TARS_ENST00000414361.2_Missense_Mutation_p.R333Q|TARS_ENST00000502553.1_Missense_Mutation_p.R454Q|TARS_ENST00000455217.2_Missense_Mutation_p.R487Q|TARS_ENST00000541634.1_Missense_Mutation_p.R350Q|TARS_ENST00000509410.1_3'UTR	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	454					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)	GGACTCACCCGGGTACGAAGA	0.498																																						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.(1360-1362)cGg>cAg		threonyl-tRNA synthetase	L-Threonine(DB00156)						87.0	88.0	88.0					5																	33461117		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33461117G>A	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.1361G>A	5.37:g.33461117G>A	ENSP00000265112:p.Arg454Gln					TARS_ENST00000541634.1_Missense_Mutation_p.R350Q|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.R454Q|TARS_ENST00000414361.2_Missense_Mutation_p.R333Q|TARS_ENST00000455217.2_Missense_Mutation_p.R487Q	p.R454Q	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			12	1672	+			454					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.1361G>A	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	36	5.910587	0.97093	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.99992	5.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;D;D	0.85130	0.997;0.988;0.944;0.988	D	0.97583	1.0112	10	0.87932	D	0	-1.1692	20.8794	0.99867	0.0:0.0:1.0:0.0	.	333;487;350;454	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	Q	454;454;350;487;333	ENSP00000424387:R454Q;ENSP00000265112:R454Q;ENSP00000438469:R350Q;ENSP00000387710:R487Q;ENSP00000394291:R333Q	ENSP00000265112:R454Q	R	+	2	0	TARS	33496874	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	CGG		0.498	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		7	88	0	0	0	1	0	7	88				
KALRN	8997	broad.mit.edu	37	3	124132349	124132349	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:124132349C>T	ENST00000240874.3	+	14	2530	c.2373C>T	c.(2371-2373)gaC>gaT	p.D791D	KALRN_ENST00000460856.1_Silent_p.D791D|KALRN_ENST00000360013.3_Silent_p.D791D	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	791					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						GGAATGAAGACTTGCTTCGGC	0.532																																						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.(2371-2373)gaC>gaT		kalirin, RhoGEF kinase							86.0	72.0	76.0					3																	124132349		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:124132349C>T	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.2373C>T	3.37:g.124132349C>T						KALRN_ENST00000460856.1_Silent_p.D791D|KALRN_ENST00000240874.3_Silent_p.D791D	p.D791D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			14	2500	+			791					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.2373C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	9.267	1.044619	0.19748	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.65	4.78	0.61160	.	.	.	.	.	T	0.62950	0.2470	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61768	-0.6995	4	.	.	.	.	11.4231	0.49993	0.0:0.8457:0.0:0.1543	.	.	.	.	I	769	.	.	T	+	2	0	KALRN	125615039	0.951000	0.32395	0.998000	0.56505	0.980000	0.70556	0.664000	0.25068	1.634000	0.50500	0.655000	0.94253	ACT		0.532	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		5	25	0	0	0	1	0	5	25				
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469). {ECO:0000305}.	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)	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393																																						ENST00000300619.7																			1	Substitution - Missense(1)	p.R333H(1)	large_intestine(1)								c.(997-999)cGt>cAt		zinc finger protein 91							72.0	76.0	75.0					19																	23544783		2120	4254	6374	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544783C>T	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.998G>A	19.37:g.23544783C>T	ENSP00000300619:p.Arg333His					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H	p.R333H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1203	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	333	R -> H (in Ref. 1; AAA59469).				A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.998G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075438	0.08485	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17854	2.25;2.25	1.97	-3.94	0.04130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07279	0.0184	N	0.20845	0.615	0.09310	N	1	P;D	0.61080	0.566;0.989	B;B	0.41988	0.043;0.372	T	0.25257	-1.0137	9	0.14252	T	0.57	.	3.5074	0.07696	0.1773:0.4543:0.0:0.3684	rs410211	301;333	Q05481-2;Q05481	.;ZNF91_HUMAN	H	333;301	ENSP00000300619:R333H;ENSP00000380272:R301H	ENSP00000300619:R333H	R	-	2	0	ZNF91	23336623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.928000	0.03761	0.162000	0.16502	CGT		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		3	70	0	0	0	1	0	3	70				
PLXNA4	91584	broad.mit.edu	37	7	131832692	131832692	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:131832692A>T	ENST00000359827.3	-	27	5793	c.4831T>A	c.(4831-4833)Tcc>Acc	p.S1611T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1611T			Q9HCM2	PLXA4_HUMAN	plexin A4	1611					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						GAGACGGTGGAGTTGTTCACT	0.542																																						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.(4831-4833)Tcc>Acc		plexin A4							122.0	128.0	126.0					7																	131832692		2065	4210	6275	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131832692A>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.4831T>A	7.37:g.131832692A>T	ENSP00000352882:p.Ser1611Thr					PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1611T	p.S1611T			Q9HCM2	PLXA4_HUMAN			27	5793	-			1611					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4831T>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.440478	0.63067	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.01015	5.44;5.44	5.54	5.54	0.83059	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	2.800690	0.00853	N	0.001858	T	0.02193	0.0068	L	0.49350	1.555	0.80722	D	1	B	0.23128	0.08	B	0.24006	0.05	T	0.61222	-0.7106	10	0.23302	T	0.38	.	15.6745	0.77303	1.0:0.0:0.0:0.0	.	1611	Q9HCM2	PLXA4_HUMAN	T	1611	ENSP00000323194:S1611T;ENSP00000352882:S1611T	ENSP00000323194:S1611T	S	-	1	0	PLXNA4	131483232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.791000	0.75120	2.120000	0.65058	0.459000	0.35465	TCC		0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		7	87	0	0	0	1	0	7	87				
GOLGA3	2802	broad.mit.edu	37	12	133353557	133353557	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:133353557A>T	ENST00000450791.2	-	19	4025	c.3842T>A	c.(3841-3843)gTg>gAg	p.V1281E	GOLGA3_ENST00000456883.2_Missense_Mutation_p.V1281E|GOLGA3_ENST00000204726.3_Missense_Mutation_p.V1281E			Q08378	GOGA3_HUMAN	golgin A3	1281	Gln-rich.			V -> A (in Ref. 2; AAL93149). {ECO:0000305}.	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)		TTGGTTTCCCACGGGCTGTTT	0.627																																						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.(3841-3843)gTg>gAg		golgin A3							57.0	47.0	50.0					12																	133353557		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353557A>T	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.3842T>A	12.37:g.133353557A>T	ENSP00000410378:p.Val1281Glu					GOLGA3_ENST00000456883.2_Missense_Mutation_p.V1281E|GOLGA3_ENST00000450791.2_Missense_Mutation_p.V1281E	p.V1281E	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)	20	4400	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1281	V -> A (in Ref. 2; AAL93149).		Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3842T>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	A	0.162	-1.080503	0.01888	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.76448	-1.02;-1.02;1.67	5.75	-2.15	0.07102	.	1.727610	0.02880	N	0.132746	T	0.61788	0.2375	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.13145	0.006;0.007	B;B	0.14578	0.008;0.011	T	0.53500	-0.8430	10	0.02654	T	1	.	8.7634	0.34689	0.3618:0.0:0.5199:0.1183	.	1281;1281	Q08378-2;Q08378	.;GOGA3_HUMAN	E	1281	ENSP00000204726:V1281E;ENSP00000410378:V1281E;ENSP00000409303:V1281E	ENSP00000204726:V1281E	V	-	2	0	GOLGA3	131863630	0.001000	0.12720	0.000000	0.03702	0.350000	0.29205	1.550000	0.36223	-0.639000	0.05502	0.528000	0.53228	GTG		0.627	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		3	38	0	0	0	1	0	3	38				
POU2F1	5451	broad.mit.edu	37	1	167367303	167367303	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:167367303G>A	ENST00000541643.3	+	12	1295	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	POU2F1_ENST00000367866.2_Missense_Mutation_p.R401H|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.R390H|POU2F1_ENST00000429375.2_Missense_Mutation_p.R338H|POU2F1_ENST00000420254.3_Missense_Mutation_p.R378H			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	378					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						GGCTTGAGCCGTAGGAGGAAG	0.463																																						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.(1168-1170)cGt>cAt		POU class 2 homeobox 1							116.0	110.0	112.0					1																	167367303		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.chr1:167367303G>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.1133G>A	1.37:g.167367303G>A	ENSP00000441285:p.Arg378His					POU2F1_ENST00000420254.3_Missense_Mutation_p.R378H|POU2F1_ENST00000541643.3_Missense_Mutation_p.R378H|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.R401H|POU2F1_ENST00000429375.2_Missense_Mutation_p.R338H	p.R390H	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			11	1404	+			378					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1169G>A		.	.	.	.	.	.	.	.	.	.	G	27.8	4.865582	0.91511	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;D;T;T;T;T;T	0.95949	-1.08;-3.86;-1.08;-1.08;-1.08;-1.08;-1.08	6.0	6.0	0.97389	Homeodomain-related (1);Homeobox (1);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	H	0.96111	3.77	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.984;0.997;0.997;0.995	P;D;D;D;P	0.69654	0.878;0.965;0.943;0.961;0.878	D	0.99029	1.0820	10	0.87932	D	0	.	20.483	0.99199	0.0:0.0:1.0:0.0	.	338;378;390;376;378	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	H	401;338;376;378;378;390;286	ENSP00000356840:R401H;ENSP00000401217:R338H;ENSP00000356839:R376H;ENSP00000414660:R378H;ENSP00000441285:R378H;ENSP00000356836:R390H;ENSP00000415993:R286H	ENSP00000356836:R390H	R	+	2	0	POU2F1	165633927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.789000	0.99068	2.836000	0.97738	0.655000	0.94253	CGT		0.463	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		4	45	0	0	0	1	0	4	45				
MAVS	57506	broad.mit.edu	37	20	3843002	3843002	+	Silent	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:3843002T>C	ENST00000428216.2	+	5	695	c.567T>C	c.(565-567)ccT>ccC	p.P189P	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.P48P	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	189					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|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 interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|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)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTCAGCCCTCTGACCTCCA	0.587																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(565-567)ccT>ccC		mitochondrial antiviral signaling protein							60.0	59.0	60.0					20																	3843002		2203	4300	6503	SO:0001819	synonymous_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3843002T>C	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.567T>C	20.37:g.3843002T>C						MAVS_ENST00000416600.2_Silent_p.P48P|MAVS_ENST00000358134.6_3'UTR	p.P189P	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			5	695	+			189					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	37	c.567T>C	CCDS33437.1																																																																																				0.587	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		3	58	0	0	0	1	0	3	58				
IL12RB2	3595	broad.mit.edu	37	1	67787493	67787495	+	In_Frame_Del	DEL	TAC	TAC	-	rs531958708		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:67787493_67787495delTAC	ENST00000262345.1	+	3	925_927	c.285_287delTAC	c.(283-288)ggtaca>gga	p.T97del	IL12RB2_ENST00000541374.1_In_Frame_Del_p.T97del|IL12RB2_ENST00000544434.1_In_Frame_Del_p.T97del|IL12RB2_ENST00000371000.1_In_Frame_Del_p.T97del	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	97					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						TTCCCCTTGGTACAACCTTGTTT	0.404																																						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.(283-288)gga>gg		interleukin 12 receptor, beta 2																																				SO:0001651	inframe_deletion	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67787493_67787495delTAC	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.285_287delTAC	1.37:g.67787493_67787495delTAC	ENSP00000262345:p.Thr97del					IL12RB2_ENST00000544434.1_In_Frame_Del_p.GT95del|IL12RB2_ENST00000541374.1_In_Frame_Del_p.GT95del|IL12RB2_ENST00000371000.1_In_Frame_Del_p.GT95del	p.GT95del	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			3	925_927	+			95					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	In_Frame_Del	DEL	ENST00000262345.1	37	c.285_287delTAC	CCDS638.1																																																																																				0.404	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		8	214						8	214	---	---	---	---
MTERF4	130916	broad.mit.edu	37	2	242039085	242039085	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:242039085delC	ENST00000391980.2	-	2	304	c.246delG	c.(244-246)gggfs	p.G82fs	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Frame_Shift_Del_p.G82fs|MTERFD2_ENST00000495694.1_Frame_Shift_Del_p.G82fs|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		82					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|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;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CCACAGGAGTCCCCTGCTTCT	0.488																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(244-246)ggfs		MTERF domain containing 2							104.0	101.0	102.0					2																	242039085		2203	4300	6503	SO:0001589	frameshift_variant	130916							g.chr2:242039085delC																												ENST00000391980.2:c.246delG	2.37:g.242039085delC	ENSP00000375840:p.Gly82fs					MTERFD2_ENST00000495694.1_Frame_Shift_Del_p.G82fs|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Frame_Shift_Del_p.G82fs	p.G82fs	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	2	304	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|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)	82					A8K6K0|Q9P0E0	Frame_Shift_Del	DEL	ENST00000391980.2	37	c.246delG	CCDS2544.1																																																																																				0.488	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			22	52						22	52	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102883497	102883498	+	RNA	INS	-	-	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:102883497_102883498insA	ENST00000312132.4	-	0	2616							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										AGTACCACTGTAAAAAAAAAAA	0.287																																						ENST00000312132.4																			0																																																			0							g.chr7:102883497_102883498insA	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102883508_102883508dupA														0	2616	-								Q8N9V4|Q8ND62	RNA	INS	ENST00000312132.4	37																																																																																						0.287	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	7						4	7	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38146134	38146135	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:38146134_38146135insT	ENST00000317025.8	-	19	3888_3889	c.3371_3372insA	c.(3370-3372)cacfs	p.H1124fs	WHSC1L1_ENST00000527502.1_Frame_Shift_Ins_p.H1124fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Ins_p.H1075fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1124	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				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)			ACACCTGCGGGTGGCATTCATA	0.525			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.(3370-3372)cccfs		Wolf-Hirschhorn syndrome candidate 1-like 1																																				SO:0001589	frameshift_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38146134_38146135insT	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.3372dupA	8.37:g.38146135_38146135dupT	ENSP00000313983:p.His1124fs					WHSC1L1_ENST00000433384.2_Frame_Shift_Ins_p.P1075fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Ins_p.P1124fs	p.P1124fs	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)		19	3888_3889	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1124			AWS.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Frame_Shift_Ins	INS	ENST00000317025.8	37	c.3371_3372insA	CCDS43729.1																																																																																				0.525	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		8	113						8	113	---	---	---	---
OR52N5	390075	broad.mit.edu	37	11	5799663	5799664	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:5799663_5799664insAC	ENST00000317093.2	-	1	233_234	c.201_202insGT	c.(199-204)atgtatfs	p.Y68fs	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, 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)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		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)		AAAAAAAAATACATCGGATGAT	0.45																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(199-204)atatttfs		olfactory receptor, family 52, subfamily N, member 5																																				SO:0001589	frameshift_variant	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799663_5799664insAC	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.201_202insGT	11.37:g.5799663_5799664insAC	ENSP00000322866:p.Tyr68fs					TRIM5_ENST00000380027.1_Intron	p.IF67fs	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_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	233_234	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	67					B9EH12|Q6IFG2	Frame_Shift_Ins	INS	ENST00000317093.2	37	c.201_202insGT	CCDS31397.1																																																																																				0.450	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		8	120						8	120	---	---	---	---
CAT	847	broad.mit.edu	37	11	34475464	34475464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:34475464delC	ENST00000241052.4	+	6	791	c.702delC	c.(700-702)ttcfs	p.F234fs		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	234					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATTGCAAATTCCATTATAAGG	0.443																																						ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(700-702)ttfs		catalase	Fomepizole(DB01213)						123.0	113.0	117.0					11																	34475464		2202	4298	6500	SO:0001589	frameshift_variant	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34475464delC	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.702delC	11.37:g.34475464delC	ENSP00000241052:p.Phe234fs						p.F234fs	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	6	791	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	234					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Frame_Shift_Del	DEL	ENST00000241052.4	37	c.702delC	CCDS7891.1																																																																																				0.443	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		8	74						8	74	---	---	---	---
ARGLU1	55082	broad.mit.edu	37	13	107219953	107219955	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr13:107219953_107219955delCTC	ENST00000400198.3	-	1	557_559	c.313_315delGAG	c.(313-315)gagdel	p.E105del		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	105	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGCTTTCTTCTCCTCCTCCTCT	0.714																																						ENST00000400198.3																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(313-315)del		arginine and glutamate rich 1																																				SO:0001651	inframe_deletion	55082							g.chr13:107219953_107219955delCTC	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.313_315delGAG	13.37:g.107219962_107219964delCTC	ENSP00000383059:p.Glu105del						p.E105del	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN			1	557_559	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		105			Glu-rich.		B4E0Y3|Q5T257|Q6IQ34	In_Frame_Del	DEL	ENST00000400198.3	37	c.313_315delGAG	CCDS41906.1																																																																																				0.714	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	NM_018011		7	192						7	192	---	---	---	---
NR2E3	10002	broad.mit.edu	37	15	72103780	72103795	+	RNA	DEL	GGCCCAGCCCTGCCCT	GGCCCAGCCCTGCCCT	-	rs11271584|rs199588027|rs201237417|rs368088582|rs2742318|rs539814199	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr15:72103780_72103795delGGCCCAGCCCTGCCCT	ENST00000398840.2	+	0	308							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						gccctgccccggcccagccctgccctggcccagccc	0.69																																						ENST00000398840.2																			0				breast(1)|endometrium(1)|lung(1)	3								nuclear receptor subfamily 2, group E, member 3			,	342,2950		99,144,1403					,	-2.1	0.0			8	118,7024		37,44,3490	no	intron,intron	NR2E3	NM_016346.2,NM_014249.2	,	136,188,4893	A1A1,A1R,RR		1.6522,10.3888,4.4087	,	,		460,9974						10002				phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr15:72103780_72103795delGGCCCAGCCCTGCCCT		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"""Nuclear hormone receptors"""	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72103780_72103795delGGCCCAGCCCTGCCCT										Q9Y5X4	NR2E3_HUMAN			0	308	+								B6ZGU0|Q9UHM4	RNA	DEL	ENST00000398840.2	37																																																																																						0.690	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249		2	4						2	4	---	---	---	---
ZC3H18	124245	broad.mit.edu	37	16	88694459	88694459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:88694459delC	ENST00000301011.5	+	15	2601	c.2401delC	c.(2401-2403)cccfs	p.P802fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P826fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	802						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q804fs*15(1)		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)		CCAGCAGGCACCCCCCGGGCA	0.612																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			1	Deletion - Frameshift(1)	p.Q804fs*15(1)	large_intestine(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(2401-2403)ccfs		zinc finger CCCH-type containing 18							59.0	77.0	70.0					16																	88694459		2198	4300	6498	SO:0001589	frameshift_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88694459delC	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.2401delC	16.37:g.88694459delC	ENSP00000301011:p.Pro802fs					ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P826fs	p.P802fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	15	2601	+			802					Q96DG4|Q96MP7	Frame_Shift_Del	DEL	ENST00000301011.5	37	c.2401delC	CCDS10967.1																																																																																				0.612	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		7	285						7	285	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112482	112482	+	RNA	DEL	C	C	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:112482delC	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		AGGGGTGCTTCCAGCGAGGCG	0.622																																						ENST00000576266.1																			0																																																			0							g.chr18:112482delC			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112482delC														0	116	+									RNA	DEL	ENST00000608049.1	37																																																																																						0.622	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			2	4						2	4	---	---	---	---
PBX4	80714	broad.mit.edu	37	19	19729418	19729418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:19729418delG	ENST00000251203.9	-	1	307	c.21delC	c.(19-21)cccfs	p.P7fs		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	7					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						gcgatggcgcggggcgcggcg	0.756																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(19-21)ccfs		pre-B-cell leukemia homeobox 4							2.0	2.0	2.0					19																	19729418		1502	2827	4329	SO:0001589	frameshift_variant	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19729418delG	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.21delC	19.37:g.19729418delG	ENSP00000251203:p.Pro7fs						p.P7fs	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			1	307	-			7					A5D8Y0|B3KUK9	Frame_Shift_Del	DEL	ENST00000251203.9	37	c.21delC	CCDS12406.1																																																																																				0.756	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085531	11085533	+	RNA	DEL	AAA	AAA	-	rs376459584		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr21:11085531_11085533delAAA	ENST00000470054.1	-	0	324							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)		caccaccactaaaaccacgacca	0.596																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085531_11085533delAAA	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.11085531_11085533delAAA												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	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.596	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	5						3	5	---	---	---	---
MBTPS2	51360	broad.mit.edu	37	X	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-	rs398124305		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:21857869_21857871delTGG	ENST00000379484.5	+	1	116_118	c.17_19delTGG	c.(16-21)ctggtg>ctg	p.V11del	MBTPS2_ENST00000365779.2_In_Frame_Del_p.V11del|MBTPS2_ENST00000465888.1_3'UTR	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	11					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)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685																																						ENST00000365779.2																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(16-21)ctg>c		membrane-bound transcription factor peptidase, site 2				318,3361		136,29,17,1421,490						2.4	1.0			49	402,6025		122,56,102,2168,1633	no	coding	MBTPS2	NM_015884.3		258,85,119,3589,2123	A1A1,A1R,A1,RR,R		6.2549,8.6437,7.1245				720,9386				SO:0001651	inframe_deletion	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21857869_21857871delTGG	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.17_19delTGG	X.37:g.21857878_21857880delTGG	ENSP00000368798:p.Val11del					MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.LV6del	p.LV6del			O43462	MBTP2_HUMAN			1	98_100	+			6					Q9UM70|Q9UMD3	In_Frame_Del	DEL	ENST00000379484.5	37	c.17_19delTGG	CCDS14201.1																																																																																				0.685	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			3	4						3	4	---	---	---	---
