#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
BEGAIN	57596	broad.mit.edu	37	14	101012917	101012917	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr14:101012917C>A	ENST00000355173.2	-	3	168	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	BEGAIN_ENST00000556751.1_5'UTR|BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000443071.2_Missense_Mutation_p.D33Y	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	33						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CGCGTGGAGTCGAACTCGGTC	0.672																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000443071.2																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(97-99)Gac>Tac		brain-enriched guanylate kinase-associated							81.0	74.0	76.0					14																	101012917		2203	4300	6503	SO:0001583	missense	57596					cytoplasm|membrane	protein binding	g.chr14:101012917C>A	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.97G>T	14.37:g.101012917C>A	ENSP00000347301:p.Asp33Tyr					BEGAIN_ENST00000556751.1_5'UTR|BEGAIN_ENST00000355173.2_Missense_Mutation_p.D33Y|BEGAIN_ENST00000554747.1_5'UTR	p.D33Y	NM_001159531.1	NP_001153003.1	Q9BUH8	BEGIN_HUMAN			2	242	-		Melanoma(154;0.212)	33					Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	c.97G>T	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	c	31	5.058611	0.93846	.	.	ENSG00000183092	ENST00000355173;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000557378;ENST00000554140	T;T;T;T;T;T	0.79352	1.79;1.79;-1.26;-1.26;-1.26;-1.26	4.59	4.59	0.56863	.	0.000000	0.85682	U	0.000000	D	0.86406	0.5925	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88167	0.2861	10	0.87932	D	0	-6.7209	14.9651	0.71184	0.0:1.0:0.0:0.0	.	33	Q9BUH8	BEGIN_HUMAN	Y	33;33;45;33;33;52	ENSP00000347301:D33Y;ENSP00000411124:D33Y;ENSP00000451397:D45Y;ENSP00000452157:D33Y;ENSP00000450722:D33Y;ENSP00000451125:D52Y	ENSP00000347301:D33Y	D	-	1	0	BEGAIN	100082670	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.104000	0.57790	2.105000	0.64084	0.473000	0.43528	GAC		0.672	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		9	99	1	0	1.11149e-13	1	1.22127e-13	9	99				
ZNF217	7764	broad.mit.edu	37	20	52188372	52188372	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:52188372G>C	ENST00000371471.2	-	5	3483	c.3058C>G	c.(3058-3060)Caa>Gaa	p.Q1020E	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.Q1020E			O75362	ZN217_HUMAN	zinc finger protein 217	1020					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GATAAGTGTTGATATGACACA	0.299																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(3058-3060)Caa>Gaa		zinc finger protein 217							164.0	155.0	158.0					20																	52188372		2202	4299	6501	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52188372G>C	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.3058C>G	20.37:g.52188372G>C	ENSP00000360526:p.Gln1020Glu					ZNF217_ENST00000302342.3_Missense_Mutation_p.Q1020E|RP4-724E16.2_ENST00000424252.1_RNA	p.Q1020E			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		5	3483	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		1020					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.3058C>G	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089602	0.76756	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09538	2.97;2.97	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000017	T	0.21631	0.0521	M	0.63843	1.955	0.40939	D	0.984454	P	0.52170	0.951	P	0.48552	0.581	T	0.00302	-1.1834	10	0.87932	D	0	-33.2546	17.787	0.88541	0.0:0.0:1.0:0.0	.	1020	O75362	ZN217_HUMAN	E	1020	ENSP00000360526:Q1020E;ENSP00000304308:Q1020E	ENSP00000304308:Q1020E	Q	-	1	0	ZNF217	51621779	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	6.745000	0.74860	2.724000	0.93272	0.563000	0.77884	CAA		0.299	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		19	125	0	0	0	1	0	19	125				
TTC21B	79809	broad.mit.edu	37	2	166755204	166755204	+	Missense_Mutation	SNP	C	C	T	rs142022626	byFrequency	TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:166755204C>T	ENST00000243344.7	-	22	3079	c.2942G>A	c.(2941-2943)cGt>cAt	p.R981H		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	981					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ACCTGGCTTACGTTCTAAAAG	0.378													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18947	0.0		0.0	False		,,,				2504	0.0					ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(2941-2943)cGt>cAt		tetratricopeptide repeat domain 21B		C	HIS/ARG	7,4397	12.9+/-30.5	0,7,2195	122.0	132.0	129.0		2942	5.0	1.0	2	dbSNP_134	129	0,8600		0,0,4300	yes	missense	TTC21B	NM_024753.3	29	0,7,6495	TT,TC,CC		0.0,0.1589,0.0538	benign	981/1317	166755204	7,12997	2202	4300	6502	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166755204C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2942G>A	2.37:g.166755204C>T	ENSP00000243344:p.Arg981His						p.R981H	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			22	3079	-			981					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.2942G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178705	0.57692	0.001589	0.0	ENSG00000123607	ENST00000243344	T	0.51817	0.69	5.83	4.96	0.65561	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.146960	0.64402	N	0.000019	T	0.43590	0.1254	L	0.45698	1.435	0.80722	D	1	B	0.24768	0.111	B	0.25291	0.059	T	0.38499	-0.9658	10	0.59425	D	0.04	-2.8837	13.7687	0.63010	0.0:0.9269:0.0:0.0731	.	981	Q7Z4L5	TT21B_HUMAN	H	981	ENSP00000243344:R981H	ENSP00000243344:R981H	R	-	2	0	TTC21B	166463450	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	2.954000	0.49113	1.474000	0.48178	0.563000	0.77884	CGT		0.378	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		21	64	0	0	0	1	0	21	64				
KIAA1524	57650	broad.mit.edu	37	3	108300312	108300312	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:108300312C>T	ENST00000295746.8	-	5	575	c.499G>A	c.(499-501)Gca>Aca	p.A167T	KIAA1524_ENST00000491772.1_Missense_Mutation_p.A8T|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	167					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAAAGATTTGCCAATAATCCT	0.294																																						ENST00000295746.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(499-501)Gca>Aca		KIAA1524							124.0	125.0	125.0					3																	108300312		2203	4299	6502	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108300312C>T	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.499G>A	3.37:g.108300312C>T	ENSP00000295746:p.Ala167Thr					KIAA1524_ENST00000491772.1_Missense_Mutation_p.A8T|KIAA1524_ENST00000487834.1_5'UTR	p.A167T	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN			5	575	-			167					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.499G>A	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394956	0.96009	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.53206	0.63;1.25	5.62	5.62	0.85841	Armadillo-type fold (1);	0.047192	0.85682	D	0.000000	T	0.69324	0.3098	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.70382	-0.4887	10	0.87932	D	0	-16.3518	20.0377	0.97569	0.0:1.0:0.0:0.0	.	167	Q8TCG1	CIP2A_HUMAN	T	8;167	ENSP00000419487:A8T;ENSP00000295746:A167T	ENSP00000295746:A167T	A	-	1	0	KIAA1524	109783002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.780000	0.75063	2.822000	0.97130	0.650000	0.86243	GCA		0.294	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		4	86	0	0	0	1	0	4	86				
EPHA10	284656	broad.mit.edu	37	1	38197164	38197164	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:38197164G>C	ENST00000373048.4	-	7	1581	c.1582C>G	c.(1582-1584)Cag>Gag	p.Q528E	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Missense_Mutation_p.Q23E|EPHA10_ENST00000330210.7_Missense_Mutation_p.Q23E|EPHA10_ENST00000427468.2_Missense_Mutation_p.Q528E	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	528	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCGGATCTGAAAGACGTAG	0.597																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1582-1584)Cag>Gag		EPH receptor A10							95.0	98.0	97.0					1																	38197164		1906	4113	6019	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38197164G>C	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1582C>G	1.37:g.38197164G>C	ENSP00000362139:p.Gln528Glu					EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.Q23E|EPHA10_ENST00000540011.1_Missense_Mutation_p.Q23E|EPHA10_ENST00000427468.2_Missense_Mutation_p.Q528E	p.Q528E	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			7	1581	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	528			Fibronectin type-III 2.		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.1582C>G	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636939	0.87760	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.77750	-1.12;0.48;-1.12;0.48	4.77	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40640	N	0.001049	D	0.84777	0.5547	M	0.81341	2.54	0.33015	D	0.528066	P	0.52170	0.951	P	0.52343	0.696	D	0.90325	0.4347	10	0.72032	D	0.01	.	16.5064	0.84273	0.0:0.0:1.0:0.0	.	528	Q5JZY3	EPHAA_HUMAN	E	23;528;23;528	ENSP00000330379:Q23E;ENSP00000397746:Q528E;ENSP00000441822:Q23E;ENSP00000362139:Q528E	ENSP00000330379:Q23E	Q	-	1	0	EPHA10	37969751	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.967000	0.76079	2.459000	0.83118	0.563000	0.77884	CAG		0.597	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		17	151	0	0	0	1	0	17	151				
FBXL5	26234	broad.mit.edu	37	4	15613901	15613901	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr4:15613901C>T	ENST00000341285.3	-	10	2111	c.1987G>A	c.(1987-1989)Gac>Aac	p.D663N	FBXL5_ENST00000412094.2_Missense_Mutation_p.D646N|FBXL5_ENST00000382358.4_Missense_Mutation_p.D537N	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	663					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TTAATGTTGTCACAGTAGTAA	0.333																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1987-1989)Gac>Aac		F-box and leucine-rich repeat protein 5							73.0	72.0	72.0					4																	15613901		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15613901C>T	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1987G>A	4.37:g.15613901C>T	ENSP00000344866:p.Asp663Asn					FBXL5_ENST00000412094.2_Missense_Mutation_p.D646N|FBXL5_ENST00000382358.4_Missense_Mutation_p.D537N	p.D663N	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN			10	2111	-			663					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.1987G>A	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242764	0.95272	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.34472	1.41;1.42;1.36	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.55386	-0.8149	10	0.87932	D	0	-19.6438	20.0951	0.97834	0.0:1.0:0.0:0.0	.	646;663	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	N	663;646;537	ENSP00000344866:D663N;ENSP00000408679:D646N;ENSP00000371795:D537N	ENSP00000344866:D663N	D	-	1	0	FBXL5	15222999	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.753000	0.94483	0.467000	0.42956	GAC		0.333	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			18	109	0	0	0	1	0	18	109				
RP11-556N21.1	0	broad.mit.edu	37	13	25144710	25144710	+	RNA	SNP	A	A	G	rs71218558|rs3742170	byFrequency	TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr13:25144710A>G	ENST00000453498.1	+	0	251																											GATGTGTTTAACACAGCCCCT	0.398													a|||	2400	0.479233	0.4871	0.4798	5008	,	,		15632	0.4246		0.3976	False		,,,				2504	0.6084					ENST00000453498.1																			0																																																			374491							g.chr13:25144710A>G																													13.37:g.25144710A>G														0	251	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.398	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	42	0	0	0	1	0	3	42				
PCDHB16	57717	broad.mit.edu	37	5	140563856	140563856	+	Silent	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:140563856G>A	ENST00000361016.2	+	1	2877	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	574	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCACTGAGCTGGTGCCCC	0.697																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1720-1722)gaG>gaA									16.0	19.0	18.0					5																	140563856		1982	3952	5934	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563856G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1722G>A	5.37:g.140563856G>A							p.E574E	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2877	+			574			Cadherin 6.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1722G>A	CCDS4251.1																																																																																				0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		56	65	0	0	0	1	0	56	65				
NUMA1	4926	broad.mit.edu	37	11	71730018	71730018	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:71730018G>A	ENST00000393695.3	-	10	924	c.593C>T	c.(592-594)tCa>tTa	p.S198L	NUMA1_ENST00000351960.6_Missense_Mutation_p.S198L|NUMA1_ENST00000358965.6_Missense_Mutation_p.S198L|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGAGAACCTGAGAGAAAGCT	0.517			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(592-594)tCa>tTa		nuclear mitotic apparatus protein 1							81.0	82.0	82.0					11																	71730018		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71730018G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.593C>T	11.37:g.71730018G>A	ENSP00000377298:p.Ser198Leu					NUMA1_ENST00000351960.6_Missense_Mutation_p.S198L|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.S198L	p.S198L	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			10	924	-			198						Missense_Mutation	SNP	ENST00000393695.3	37	c.593C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157235	0.78114	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937	T;T;T;T;T	0.52295	2.01;2.4;2.41;1.22;0.67	6.17	5.17	0.71159	.	0.564712	0.17837	N	0.160324	T	0.37812	0.1017	L	0.51422	1.61	0.35019	D	0.75767	B;B;B;B;B;B	0.31548	0.204;0.328;0.328;0.034;0.167;0.073	B;B;B;B;B;B	0.26693	0.071;0.072;0.072;0.032;0.032;0.02	T	0.42531	-0.9446	10	0.02654	T	1	.	14.8186	0.70052	0.0739:0.0:0.9261:0.0	.	198;198;198;198;198;198	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	L	198	ENSP00000260051:S198L;ENSP00000351851:S198L;ENSP00000377298:S198L;ENSP00000444880:S198L;ENSP00000442936:S198L	ENSP00000260051:S198L	S	-	2	0	NUMA1	71407666	0.842000	0.29525	1.000000	0.80357	0.726000	0.41606	2.658000	0.46733	1.463000	0.47967	0.655000	0.94253	TCA		0.517	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			18	104	0	0	0	1	0	18	104				
SLTM	79811	broad.mit.edu	37	15	59224633	59224633	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr15:59224633C>G	ENST00000380516.2	-	2	259	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	SLTM_ENST00000557950.1_5'UTR|SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	58					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTCCTTCCTCTTCAATAGCC	0.318																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(172-174)Gag>Cag		SAFB-like, transcription modulator							131.0	132.0	131.0					15																	59224633		2191	4292	6483	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59224633C>G	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.172G>C	15.37:g.59224633C>G	ENSP00000369887:p.Glu58Gln					SLTM_ENST00000536328.1_Intron|SLTM_ENST00000557950.1_5'UTR	p.E58Q	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			2	259	-			58					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.172G>C	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855402	0.71719	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	T;T	0.17691	2.26;2.36	5.73	5.73	0.89815	DNA-binding SAP (1);	0.000000	0.53938	D	0.000052	T	0.36413	0.0966	M	0.62723	1.935	0.80722	D	1	D;D	0.61697	0.97;0.99	P;P	0.57204	0.749;0.815	T	0.02596	-1.1136	10	0.62326	D	0.03	.	18.6802	0.91544	0.0:1.0:0.0:0.0	.	58;58	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	Q	58	ENSP00000369887:E58Q;ENSP00000249736:E58Q	ENSP00000249736:E58Q	E	-	1	0	SLTM	57011925	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.692000	0.68256	2.687000	0.91594	0.655000	0.94253	GAG		0.318	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		18	155	0	0	0	1	0	18	155				
IHH	3549	broad.mit.edu	37	2	219922253	219922253	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:219922253C>A	ENST00000295731.6	-	2	478	c.479G>T	c.(478-480)cGc>cTc	p.R160L	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	160					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATACTTATTGCGGTCGCGGTC	0.622																																						ENST00000295731.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(478-480)cGc>cTc		indian hedgehog							52.0	44.0	47.0					2																	219922253		2203	4300	6503	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219922253C>A	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.479G>T	2.37:g.219922253C>A	ENSP00000295731:p.Arg160Leu						p.R160L	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	478	-		Renal(207;0.0915)	160					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.479G>T	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	C	36	5.613231	0.96637	.	.	ENSG00000163501	ENST00000295731	D	0.99474	-5.97	5.78	5.78	0.91487	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98860	1.0762	10	0.62326	D	0.03	-33.717	19.613	0.95618	0.0:1.0:0.0:0.0	.	160	Q14623	IHH_HUMAN	L	160	ENSP00000295731:R160L	ENSP00000295731:R160L	R	-	2	0	IHH	219630497	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.838000	0.62803	2.722000	0.93159	0.650000	0.86243	CGC		0.622	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		9	33	1	0	2.17888e-05	1	2.30857e-05	9	33				
ZNF606	80095	broad.mit.edu	37	19	58490485	58490485	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:58490485G>C	ENST00000341164.4	-	7	2183	c.1563C>G	c.(1561-1563)ttC>ttG	p.F521L	ZNF606_ENST00000536132.1_Missense_Mutation_p.F431L	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AGCTCCAGCTGAATGATTTCC	0.413																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1561-1563)ttC>ttG		zinc finger protein 606							55.0	55.0	55.0					19																	58490485		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490485G>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1563C>G	19.37:g.58490485G>C	ENSP00000343617:p.Phe521Leu					ZNF606_ENST00000536132.1_Missense_Mutation_p.F431L	p.F521L	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2183	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	521					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1563C>G	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758621	0.49468	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.46063	0.88;0.88	4.71	2.6	0.31112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000118	T	0.60327	0.2260	M	0.82517	2.595	0.46654	D	0.999145	D	0.89917	1.0	D	0.91635	0.999	T	0.62039	-0.6938	10	0.87932	D	0	.	5.144	0.14975	0.3699:0.0:0.6301:0.0	.	521	Q8WXB4	ZN606_HUMAN	L	521;431	ENSP00000343617:F521L;ENSP00000445624:F431L	ENSP00000343617:F521L	F	-	3	2	ZNF606	63182297	0.082000	0.21442	1.000000	0.80357	0.994000	0.84299	0.498000	0.22530	1.329000	0.45376	0.561000	0.74099	TTC		0.413	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		8	100	0	0	0	1	0	8	100				
TP53BP2	7159	broad.mit.edu	37	1	223991102	223991102	+	Silent	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:223991102G>A	ENST00000343537.7	-	7	993	c.702C>T	c.(700-702)ctC>ctT	p.L234L	TP53BP2_ENST00000391878.2_Silent_p.L105L|TP53BP2_ENST00000391879.2_5'Flank|TP53BP2_ENST00000498843.1_5'Flank	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	228					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CAGCCAGGACGAGCTCCCTCT	0.448																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(313-315)ctC>ctT		tumor protein p53 binding protein, 2							111.0	100.0	104.0					1																	223991102		2203	4300	6503	SO:0001819	synonymous_variant	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223991102G>A	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.702C>T	1.37:g.223991102G>A						TP53BP2_ENST00000343537.7_Silent_p.L234L	p.L105L	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	8	1083	-			228					B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	c.315C>T	CCDS44319.1																																																																																				0.448	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		25	102	0	0	0	1	0	25	102				
GALNT13	114805	broad.mit.edu	37	2	155102337	155102337	+	Silent	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:155102337C>T	ENST00000392825.3	+	7	1266	c.699C>T	c.(697-699)gtC>gtT	p.V233V	GALNT13_ENST00000409237.1_Silent_p.V233V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	233					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAACGGTTGTCTGCCCTATCA	0.348																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(697-699)gtC>gtT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							126.0	124.0	124.0					2																	155102337		2203	4300	6503	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155102337C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.699C>T	2.37:g.155102337C>T						GALNT13_ENST00000409237.1_Silent_p.V233V	p.V233V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			7	1266	+			233					Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.699C>T	CCDS2199.1																																																																																				0.348	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		15	97	0	0	0	1	0	15	97				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	18	0	0	0	1	0	3	18				
TRIP11	9321	broad.mit.edu	37	14	92472378	92472378	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr14:92472378C>G	ENST00000267622.4	-	11	2315	c.1942G>C	c.(1942-1944)Gaa>Caa	p.E648Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	648					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ACTTCAGCTTCTCTTTCTTTA	0.294			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1942-1944)Gaa>Caa		thyroid hormone receptor interactor 11							38.0	38.0	38.0					14																	92472378		2199	4291	6490	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92472378C>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1942G>C	14.37:g.92472378C>G	ENSP00000267622:p.Glu648Gln						p.E648Q	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2315	-			648					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.1942G>C	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.160793|3.160793	0.57368|0.57368	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|T	0.06528|0.05649	3.29|3.41	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.115146|.	0.64402|.	D|.	0.000016|.	T|T	0.23611|0.23611	0.0571|0.0571	M|M	0.69823|0.69823	2.125|2.125	0.43195|0.43195	D|D	0.99503|0.99503	D;D|.	0.76494|.	0.996;0.999|.	P;D|.	0.68765|.	0.9;0.96|.	T|T	0.00002|0.00002	-1.2621|-1.2621	10|6	0.38643|.	T|.	0.18|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	384;648|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Q|T	648;384|363	ENSP00000267622:E648Q|ENSP00000451032:R363T	ENSP00000267622:E648Q|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91542131|91542131	1.000000|1.000000	0.71417|0.71417	0.911000|0.911000	0.35937|0.35937	0.252000|0.252000	0.25951|0.25951	2.535000|2.535000	0.45685|0.45685	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.294	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			4	71	0	0	0	1	0	4	71				
KIAA1614	57710	broad.mit.edu	37	1	180885943	180885943	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:180885943G>A	ENST00000367588.4	+	2	759	c.704G>A	c.(703-705)aGc>aAc	p.S235N		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	235										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CACATTCCCAGCCCAAGGACA	0.577																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(703-705)aGc>aAc		KIAA1614							177.0	187.0	184.0					1																	180885943		2024	4176	6200	SO:0001583	missense	57710							g.chr1:180885943G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.704G>A	1.37:g.180885943G>A	ENSP00000356560:p.Ser235Asn						p.S235N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			2	759	+			235					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.704G>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	3.038	-0.198176	0.06219	.	.	ENSG00000135835	ENST00000367588	T	0.04862	3.54	4.57	-8.95	0.00765	.	1.562550	0.04006	N	0.297339	T	0.02012	0.0063	N	0.03115	-0.41	0.21105	N	0.999782	B	0.06786	0.001	B	0.09377	0.004	T	0.43376	-0.9395	9	0.02654	T	1	0.0817	7.6311	0.28240	0.3042:0.3053:0.3905:0.0	.	235	Q5VZ46	K1614_HUMAN	N	235	ENSP00000356560:S235N	ENSP00000356560:S235N	S	+	2	0	KIAA1614	179152566	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-1.704000	0.01898	-1.469000	0.01890	0.563000	0.77884	AGC		0.577	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		29	271	0	0	0	1	0	29	271				
DCAKD	79877	broad.mit.edu	37	17	43111349	43111349	+	Intron	SNP	A	A	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:43111349A>G	ENST00000452796.2	-	2	572				DCAKD_ENST00000342350.5_Intron|DCAKD_ENST00000588499.1_Intron|DCAKD_ENST00000310604.4_Silent_p.S126S|DCAKD_ENST00000588295.1_5'UTR			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing						coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				ttctcattaaactgtcagcct	0.493																																						ENST00000310604.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6						c.(376-378)agT>agC		dephospho-CoA kinase domain containing							26.0	25.0	26.0					17																	43111349		876	1991	2867	SO:0001627	intron_variant	79877				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity	g.chr17:43111349A>G	BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.316+205T>C	17.37:g.43111349A>G						DCAKD_ENST00000342350.5_Intron|DCAKD_ENST00000452796.2_Intron|DCAKD_ENST00000588499.1_Intron|DCAKD_ENST00000588295.1_5'UTR	p.S126S			Q8WVC6	DCAKD_HUMAN			4	709	-		Prostate(33;0.155)	0			DPCK.		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Silent	SNP	ENST00000452796.2	37	c.378T>C	CCDS11493.1																																																																																				0.493	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449066.1	NM_024819		3	22	0	0	0	1	0	3	22				
CSPG5	10675	broad.mit.edu	37	3	47618421	47618421	+	Silent	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:47618421C>T	ENST00000383738.2	-	2	3193	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	CSPG5_ENST00000456150.1_Silent_p.R227R|CSPG5_ENST00000264723.4_Silent_p.R365R|CSPG5_ENST00000465441.1_5'Flank	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCCGTTATGCCGCACAAAGC	0.627																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(1093-1095)cgG>cgA		chondroitin sulfate proteoglycan 5 (neuroglycan C)							94.0	97.0	96.0					3																	47618421		2203	4299	6502	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618421C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1095G>A	3.37:g.47618421C>T						CSPG5_ENST00000456150.1_Silent_p.R227R|CSPG5_ENST00000264723.4_Silent_p.R365R	p.R365R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	3193	-			365					Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.1095G>A	CCDS56253.1																																																																																				0.627	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		4	160	0	0	0	1	0	4	160				
POLR2B	5431	broad.mit.edu	37	4	57896426	57896426	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr4:57896426C>A	ENST00000381227.1	+	25	3709	c.3296C>A	c.(3295-3297)gCa>gAa	p.A1099E	IGFBP7_ENST00000512512.1_5'Flank|POLR2B_ENST00000314595.5_Missense_Mutation_p.A1099E|POLR2B_ENST00000441246.2_Missense_Mutation_p.A1092E|POLR2B_ENST00000431623.2_Missense_Mutation_p.A1024E			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1099					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCCCATGGAGCAGCCCAGTTT	0.393																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(3295-3297)gCa>gAa		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							124.0	121.0	122.0					4																	57896426		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57896426C>A		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.3296C>A	4.37:g.57896426C>A	ENSP00000370625:p.Ala1099Glu					POLR2B_ENST00000431623.2_Missense_Mutation_p.A1024E|POLR2B_ENST00000441246.2_Missense_Mutation_p.A1092E|POLR2B_ENST00000314595.5_Missense_Mutation_p.A1099E	p.A1099E			P30876	RPB2_HUMAN			25	3709	+	Glioma(25;0.08)|all_neural(26;0.181)		1099					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.3296C>A	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140566	0.94560	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.41	5.41	0.78517	RNA polymerase Rpb2, domain 7 (1);	0.000000	0.85682	D	0.000000	D	0.95541	0.8551	H	0.99182	4.46	0.80722	D	1	P;P	0.39216	0.664;0.664	P;P	0.53760	0.626;0.734	D	0.96740	0.9546	10	0.87932	D	0	.	19.2125	0.93763	0.0:1.0:0.0:0.0	.	1024;1099	C9J4M6;P30876	.;RPB2_HUMAN	E	1099;1024;1092;1099	ENSP00000370625:A1099E;ENSP00000391096:A1024E;ENSP00000391452:A1092E;ENSP00000312735:A1099E	ENSP00000312735:A1099E	A	+	2	0	POLR2B	57591183	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.629000	0.83207	2.529000	0.85273	0.585000	0.79938	GCA		0.393	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		40	119	1	0	1.44828e-35	1	1.62135e-35	40	119				
ZNF518A	9849	broad.mit.edu	37	10	97917314	97917314	+	RNA	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr10:97917314C>T	ENST00000534948.1	+	0	2092							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AACGCTAGTTCAGGTTTCATG	0.408																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							76.0	74.0	75.0					10																	97917314		1905	4109	6014			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97917314C>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917314C>T										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	2092	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.408	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		8	61	0	0	0	1	0	8	61				
FER1L6	654463	broad.mit.edu	37	8	125033892	125033892	+	Missense_Mutation	SNP	C	C	T	rs150164383	byFrequency	TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:125033892C>T	ENST00000522917.1	+	17	2322	c.2116C>T	c.(2116-2118)Cgc>Tgc	p.R706C	FER1L6_ENST00000399018.1_Missense_Mutation_p.R706C|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	706						integral component of membrane (GO:0016021)		p.R706S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGAAAAAATCCGCTTTCTTGT	0.428													C|||	7	0.00139776	0.0023	0.0043	5008	,	,		20096	0.0		0.0	False		,,,				2504	0.001					ENST00000522917.1																			1	Substitution - Missense(1)	p.R706S(1)	lung(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2116-2118)Cgc>Tgc		fer-1-like 6 (C. elegans)		C	CYS/ARG	15,3747		0,15,1866	91.0	87.0	88.0		2116	5.8	1.0	8	dbSNP_134	88	1,8211		0,1,4105	yes	missense	FER1L6	NM_001039112.2	180	0,16,5971	TT,TC,CC		0.0122,0.3987,0.1336	probably-damaging	706/1858	125033892	16,11958	1881	4106	5987	SO:0001583	missense	654463					integral to membrane		g.chr8:125033892C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2116C>T	8.37:g.125033892C>T	ENSP00000428280:p.Arg706Cys					FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R706C	p.R706C	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		17	2322	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		706						Missense_Mutation	SNP	ENST00000522917.1	37	c.2116C>T	CCDS43767.1	5	0.0022893772893772895	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	0	0.0	C	23.2	4.381779	0.82792	0.003987	1.22E-4	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.83250	-1.7;-1.7	5.77	5.77	0.91146	.	0.094319	0.42172	U	0.000744	D	0.83055	0.5171	M	0.73217	2.22	0.80722	D	1	D	0.67145	0.996	P	0.52758	0.708	D	0.85961	0.1470	10	0.66056	D	0.02	.	13.6886	0.62531	0.1545:0.8455:0.0:0.0	.	706	Q2WGJ9	FR1L6_HUMAN	C	706	ENSP00000428280:R706C;ENSP00000381982:R706C	ENSP00000381982:R706C	R	+	1	0	FER1L6	125103073	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.439000	0.52878	2.727000	0.93392	0.591000	0.81541	CGC		0.428	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		29	112	0	0	0	1	0	29	112				
TNFAIP8L2	79626	broad.mit.edu	37	1	151131291	151131291	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:151131291G>C	ENST00000368910.3	+	2	244	c.118G>C	c.(118-120)Gat>Cat	p.D40H		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	40					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)				lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAGGTGCTAGATGAGCTCTA	0.557																																						ENST00000368910.3																			0				lung(1)|skin(2)	3						c.(118-120)Gat>Cat		tumor necrosis factor, alpha-induced protein 8-like 2							70.0	67.0	68.0					1																	151131291		2203	4300	6503	SO:0001583	missense	79626				innate immune response			g.chr1:151131291G>C	BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	ENST00000368910.3:c.118G>C	1.37:g.151131291G>C	ENSP00000357906:p.Asp40His						p.D40H	NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	244	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		40					Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	ENST00000368910.3	37	c.118G>C	CCDS985.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868369	0.91587	.	.	ENSG00000163154	ENST00000368910	T	0.52983	0.64	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73959	-0.3818	10	0.87932	D	0	-7.3611	18.5563	0.91086	0.0:0.0:1.0:0.0	.	40	Q6P589	TP8L2_HUMAN	H	40	ENSP00000357906:D40H	ENSP00000357906:D40H	D	+	1	0	TNFAIP8L2	149397915	1.000000	0.71417	0.949000	0.38748	0.991000	0.79684	9.869000	0.99810	2.673000	0.90976	0.655000	0.94253	GAT		0.557	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034069.2	NM_024575		12	68	0	0	0	1	0	12	68				
MYO10	4651	broad.mit.edu	37	5	16694713	16694713	+	Missense_Mutation	SNP	C	C	T	rs374311647		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:16694713C>T	ENST00000513610.1	-	27	4021	c.3567G>A	c.(3565-3567)atG>atA	p.M1189I	MYO10_ENST00000505695.1_Missense_Mutation_p.M528I|MYO10_ENST00000274203.9_Missense_Mutation_p.M546I|MYO10_ENST00000515803.1_Missense_Mutation_p.M528I|MYO10_ENST00000427430.2_Missense_Mutation_p.M546I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1189					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCAAGAGTTCATCAGGCCAC	0.517																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3565-3567)atG>atA		myosin X							106.0	104.0	105.0					5																	16694713		1980	4164	6144	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694713C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3567G>A	5.37:g.16694713C>T	ENSP00000421280:p.Met1189Ile					MYO10_ENST00000515803.1_Missense_Mutation_p.M528I|MYO10_ENST00000274203.9_Missense_Mutation_p.M546I|MYO10_ENST00000505695.1_Missense_Mutation_p.M528I|MYO10_ENST00000427430.2_Missense_Mutation_p.M546I	p.M1189I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			27	4021	-			1189					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3567G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554213	0.45487	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.89123	-2.31;-2.47;-2.39;-2.47;-2.39	5.35	5.35	0.76521	Pleckstrin homology-type (1);	.	.	.	.	T	0.78381	0.4274	N	0.13198	0.31	0.48452	D	0.999653	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.06405	0.0;0.0;0.002	T	0.72852	-0.4167	9	0.42905	T	0.14	.	8.043	0.30532	0.0:0.7327:0.1514:0.1159	.	68;830;1189	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	I	1189;528;546;528;546	ENSP00000421280:M1189I;ENSP00000425051:M528I;ENSP00000274203:M546I;ENSP00000421170:M528I;ENSP00000391106:M546I	ENSP00000274203:M546I	M	-	3	0	MYO10	16747713	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.118000	0.57884	2.506000	0.84524	0.563000	0.77884	ATG		0.517	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		14	139	0	0	0	1	0	14	139				
SEMA3A	10371	broad.mit.edu	37	7	83590889	83590889	+	Missense_Mutation	SNP	T	T	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr7:83590889T>A	ENST00000265362.4	-	17	2428	c.2114A>T	c.(2113-2115)gAc>gTc	p.D705V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D705V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	705					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTGCATGAAGTCTCTGTACCA	0.448																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2113-2115)gAc>gTc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							205.0	178.0	187.0					7																	83590889		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83590889T>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2114A>T	7.37:g.83590889T>A	ENSP00000265362:p.Asp705Val					SEMA3A_ENST00000436949.1_Missense_Mutation_p.D705V	p.D705V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			17	2428	-			705						Missense_Mutation	SNP	ENST00000265362.4	37	c.2114A>T	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106228	0.77096	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.37411	1.2;1.2	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68432	-0.5410	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	705	Q14563	SEM3A_HUMAN	V	705	ENSP00000265362:D705V;ENSP00000415260:D705V	ENSP00000265362:D705V	D	-	2	0	SEMA3A	83428825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.333000	0.79357	0.533000	0.62120	GAC		0.448	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		14	113	0	0	0	1	0	14	113				
TAS1R1	80835	broad.mit.edu	37	1	6638722	6638722	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:6638722G>C	ENST00000333172.6	+	6	1797	c.1604G>C	c.(1603-1605)aGa>aCa	p.R535T	TAS1R1_ENST00000328191.4_Missense_Mutation_p.D424H|TAS1R1_ENST00000351136.3_Missense_Mutation_p.R281T|ZBTB48_ENST00000377674.4_5'Flank	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	535					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GACCTCTACAGATGCCAGCCT	0.537																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(1603-1605)aGa>aCa		taste receptor, type 1, member 1							67.0	68.0	68.0					1																	6638722		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6638722G>C		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1604G>C	1.37:g.6638722G>C	ENSP00000331867:p.Arg535Thr					TAS1R1_ENST00000328191.4_Missense_Mutation_p.D424H|TAS1R1_ENST00000351136.3_Missense_Mutation_p.R281T	p.R535T	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	1797	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	535					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.1604G>C	CCDS81.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.43|11.43|11.43	1.637058|1.637058|1.637058	0.29157|0.29157|0.29157	.|.|.	.|.|.	ENSG00000173662|ENSG00000173662|ENSG00000173662	ENST00000328191|ENST00000411823|ENST00000333172;ENST00000437392;ENST00000351136	D|.|D;D	0.91464|.|0.88201	-2.85|.|-2.35;-2.35	5.04|5.04|5.04	-3.2|-3.2|-3.2	0.05156|0.05156|0.05156	.|.|GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	.|.|1.937210	.|.|0.02057	.|.|N	.|.|0.050460	T|T|T	0.68320|0.68320|0.68320	0.2988|0.2988|0.2988	N|N|N	0.01631|0.01631|0.01631	-0.79|-0.79|-0.79	0.09310|0.09310|0.09310	N|N|N	1|1|1	B|.|B;B	0.22480|.|0.11235	0.07|.|0.004;0.003	B|.|B;B	0.15484|.|0.11329	0.013|.|0.006;0.005	T|T|T	0.61992|0.61992|0.61992	-0.6948|-0.6948|-0.6948	9|5|10	0.31617|.|0.24483	T|.|T	0.26|.|0.36	.|.|.	2.1217|2.1217|2.1217	0.03727|0.03727|0.03727	0.2287:0.423:0.1328:0.2155|0.2287:0.423:0.1328:0.2155|0.2287:0.423:0.1328:0.2155	.|.|.	424|.|281;535	Q7RTX1-3|.|Q7RTX1-2;Q7RTX1	.|.|.;TS1R1_HUMAN	H|H|T	424|349|535;203;281	ENSP00000327705:D424H|.|ENSP00000331867:R535T;ENSP00000312558:R281T	ENSP00000327705:D424H|.|ENSP00000331867:R535T	D|Q|R	+|+|+	1|3|2	0|2|0	TAS1R1|TAS1R1|TAS1R1	6561309|6561309|6561309	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.001000|0.001000|0.001000	0.08648|0.08648|0.08648	0.969000|0.969000|0.969000	0.65631|0.65631|0.65631	-0.753000|-0.753000|-0.753000	0.04792|0.04792|0.04792	-0.090000|-0.090000|-0.090000	0.12462|0.12462|0.12462	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|CAG|AGA		0.537	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			4	68	0	0	0	1	0	4	68				
DAAM2	23500	broad.mit.edu	37	6	39847146	39847146	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr6:39847146C>A	ENST00000398904.2	+	14	1920	c.1738C>A	c.(1738-1740)Ccc>Acc	p.P580T	DAAM2_ENST00000274867.4_Missense_Mutation_p.P580T|DAAM2_ENST00000538976.1_Missense_Mutation_p.P580T|RP11-61I13.3_ENST00000607675.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	580	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CATGGGCCTGCCCCTCCCTCA	0.662																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(1738-1740)Ccc>Acc		dishevelled associated activator of morphogenesis 2							41.0	43.0	42.0					6																	39847146		1915	4114	6029	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39847146C>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1738C>A	6.37:g.39847146C>A	ENSP00000381876:p.Pro580Thr					DAAM2_ENST00000398904.2_Missense_Mutation_p.P580T|DAAM2_ENST00000274867.4_Missense_Mutation_p.P580T	p.P580T	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			14	1920	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		580			FH1.|Pro-rich.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.1738C>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245195	0.22796	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.83335	-1.71;-1.71;-1.68	4.63	3.73	0.42828	Actin-binding FH2 (1);	0.214881	0.39544	N	0.001332	T	0.47525	0.1450	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.44112	-0.9349	10	0.11485	T	0.65	.	13.477	0.61314	0.1579:0.8421:0.0:0.0	.	580;580	G5EA45;Q86T65	.;DAAM2_HUMAN	T	580	ENSP00000274867:P580T;ENSP00000381876:P580T;ENSP00000437808:P580T	ENSP00000274867:P580T	P	+	1	0	DAAM2	39955124	0.007000	0.16637	0.494000	0.27515	0.197000	0.23852	1.003000	0.29809	1.098000	0.41479	0.650000	0.86243	CCC		0.662	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			5	80	1	0	1.23904e-05	1	1.32065e-05	5	80				
LRP4	4038	broad.mit.edu	37	11	46911006	46911006	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:46911006C>A	ENST00000378623.1	-	16	2413	c.2171G>T	c.(2170-2172)tGc>tTc	p.C724F		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	724	EGF-like 3.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCCAGTGGGGCAGGCACAGGT	0.607											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2170-2172)tGc>tTc		low density lipoprotein receptor-related protein 4							86.0	84.0	85.0					11																	46911006		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46911006C>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2171G>T	11.37:g.46911006C>A	ENSP00000367888:p.Cys724Phe		OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942		p.C724F	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	16	2413	-			724			EGF-like 3.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.2171G>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945666	0.92593	.	.	ENSG00000134569	ENST00000378623	D	0.96716	-4.1	5.53	5.53	0.82687	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98991	1.0808	10	0.87932	D	0	.	19.4728	0.94969	0.0:1.0:0.0:0.0	.	724	O75096	LRP4_HUMAN	F	724	ENSP00000367888:C724F	ENSP00000367888:C724F	C	-	2	0	LRP4	46867582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.459000	0.80802	2.608000	0.88229	0.561000	0.74099	TGC		0.607	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		13	94	1	0	4.3838e-07	1	4.72919e-07	13	94				
GRIK1	2897	broad.mit.edu	37	21	31045417	31045417	+	Missense_Mutation	SNP	C	C	A	rs200898561		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr21:31045417C>A	ENST00000399907.1	-	4	1023	c.612G>T	c.(610-612)caG>caT	p.Q204H	GRIK1_ENST00000389125.3_Missense_Mutation_p.Q204H|GRIK1_ENST00000399913.1_Missense_Mutation_p.Q204H|GRIK1_ENST00000389124.2_Missense_Mutation_p.Q204H|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q204H|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q204H|GRIK1_ENST00000399914.1_Missense_Mutation_p.Q204H|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q204H|GRIK1_ENST00000309434.7_Missense_Mutation_p.Q204H|GRIK1_ENST00000472429.1_5'UTR	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	204					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CAGAGGGCAGCTGGCGGATTT	0.413																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(610-612)caG>caT		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						107.0	114.0	112.0					21																	31045417		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31045417C>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.612G>T	21.37:g.31045417C>A	ENSP00000382791:p.Gln204His					GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q204H|GRIK1_ENST00000309434.7_Missense_Mutation_p.Q204H|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q204H|GRIK1_ENST00000389124.2_Missense_Mutation_p.Q204H|GRIK1_ENST00000399907.1_Missense_Mutation_p.Q204H|GRIK1_ENST00000399913.1_Missense_Mutation_p.Q204H|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q204H|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q204H	p.Q204H			P39086	GRIK1_HUMAN			4	1133	-			204					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.612G>T	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797595	0.70567	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.5	4.59	0.56863	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88254	0.6387	M	0.67397	2.05	0.58432	D	0.999999	D;D;D;D;D;D	0.76494	0.999;0.999;0.959;0.999;0.999;0.999	D;D;P;D;D;D	0.76071	0.987;0.987;0.696;0.987;0.987;0.978	D	0.87333	0.2326	10	0.54805	T	0.06	.	9.6131	0.39674	0.0:0.8012:0.0:0.1988	.	204;204;204;204;204;204	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	H	204;204;204;204;204;148;204;204;204;204	ENSP00000327687:Q204H;ENSP00000373777:Q204H;ENSP00000382797:Q204H;ENSP00000382798:Q204H;ENSP00000446326:Q204H;ENSP00000373776:Q204H;ENSP00000382791:Q204H;ENSP00000382793:Q204H;ENSP00000311646:Q204H	ENSP00000311646:Q204H	Q	-	3	2	GRIK1	29967288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.405000	0.44548	2.850000	0.98022	0.650000	0.86243	CAG		0.413	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			26	138	1	0	3.7963e-18	1	4.22339e-18	26	138				
LRRC7	57554	broad.mit.edu	37	1	70446125	70446125	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:70446125G>A	ENST00000035383.5	+	7	691	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000310961.5_Missense_Mutation_p.V226M	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	221						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGCATTACAAGTGTTACCTGG	0.343																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(676-678)Gtg>Atg		leucine rich repeat containing 7							187.0	190.0	189.0					1																	70446125		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70446125G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.661G>A	1.37:g.70446125G>A	ENSP00000035383:p.Val221Met					LRRC7_ENST00000035383.5_Missense_Mutation_p.V221M|LRRC7_ENST00000415775.2_5'UTR	p.V226M			Q96NW7	LRRC7_HUMAN			10	1094	+			221					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.676G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300582	0.23650	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.59364	0.27;0.27	4.93	2.6	0.31112	.	0.490089	0.19893	N	0.103691	T	0.25344	0.0616	L	0.38175	1.15	0.80722	D	1	B	0.15141	0.012	B	0.26094	0.066	T	0.09840	-1.0656	10	0.28530	T	0.3	.	4.8364	0.13468	0.1722:0.0:0.631:0.1968	.	221	Q96NW7	LRRC7_HUMAN	M	226;221;44	ENSP00000309245:V226M;ENSP00000035383:V221M	ENSP00000035383:V221M	V	+	1	0	LRRC7	70218713	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.016000	0.40971	1.178000	0.42870	-0.188000	0.12872	GTG		0.343	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		31	124	0	0	0	1	0	31	124				
TNR	7143	broad.mit.edu	37	1	175365923	175365923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:175365923G>A	ENST00000367674.2	-	5	1705	c.997C>T	c.(997-999)Cga>Tga	p.R333*	TNR_ENST00000263525.2_Nonsense_Mutation_p.R333*			Q92752	TENR_HUMAN	tenascin R	333	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAGCCACTCGCAAGTCCTCT	0.572																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(997-999)Cga>Tga		tenascin R							77.0	80.0	79.0					1																	175365923		2203	4300	6503	SO:0001587	stop_gained	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365923G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.997C>T	1.37:g.175365923G>A	ENSP00000356646:p.Arg333*					TNR_ENST00000263525.2_Nonsense_Mutation_p.R333*	p.R333*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			5	1705	-	Renal(580;0.146)		333			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Nonsense_Mutation	SNP	ENST00000367674.2	37	c.997C>T	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.662339|4.662339	0.88251|0.88251	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673	.|.	.|.	.|.	5.95|5.95	5.02|5.02	0.67125|0.67125	.|.	.|0.165319	.|0.40385	.|N	.|0.001119	T|.	0.34395|.	0.0896|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35301|.	-0.9794|.	3|.	.|0.02654	.|T	.|1	.|.	13.813|13.813	0.63274|0.63274	0.0:0.0:0.7212:0.2788|0.0:0.0:0.7212:0.2788	.|.	.|.	.|.	.|.	V|X	57|333	.|.	.|ENSP00000263525:R333X	A|R	-|-	2|1	0|2	TNR|TNR	173632546|173632546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.184000|3.184000	0.50926|0.50926	1.495000|1.495000	0.48549|0.48549	0.563000|0.563000	0.77884|0.77884	GCG|CGA		0.572	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		5	200	0	0	0	1	0	5	200				
ARHGEF10	9639	broad.mit.edu	37	8	1905420	1905420	+	Silent	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:1905420G>A	ENST00000398564.1	+	29	4101	c.4101G>A	c.(4099-4101)ctG>ctA	p.L1367L	ARHGEF10_ENST00000518288.1_Silent_p.L1366L|ARHGEF10_ENST00000349830.3_Silent_p.L1342L|ARHGEF10_ENST00000520359.1_Silent_p.L1304L|ARHGEF10_ENST00000262112.6_Silent_p.L1338L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1367					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCCCTCTGCTGAATATATAAG	0.587																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(4096-4098)ctG>ctA		Rho guanine nucleotide exchange factor (GEF) 10							13.0	14.0	14.0					8																	1905420		2162	4191	6353	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1905420G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.4101G>A	8.37:g.1905420G>A						ARHGEF10_ENST00000262112.6_Silent_p.L1338L|ARHGEF10_ENST00000398564.1_Silent_p.L1367L|ARHGEF10_ENST00000520359.1_Silent_p.L1304L|ARHGEF10_ENST00000349830.3_Silent_p.L1342L	p.L1366L			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	30	4261	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	1367					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.4098G>A																																																																																					0.587	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				5	19	0	0	0	1	0	5	19				
ZNF606	80095	broad.mit.edu	37	19	58489968	58489968	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:58489968G>A	ENST00000341164.4	-	7	2700	c.2080C>T	c.(2080-2082)Cac>Tac	p.H694Y	ZNF606_ENST00000536132.1_Missense_Mutation_p.H604Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	694					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H694N(2)|p.H694Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GCAATGAGGTGAGAACTACAG	0.418																																						ENST00000341164.4																			3	Substitution - Missense(3)	p.H694N(2)|p.H694Y(1)	NS(2)|ovary(1)	NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2080-2082)Cac>Tac		zinc finger protein 606							96.0	95.0	95.0					19																	58489968		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58489968G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.2080C>T	19.37:g.58489968G>A	ENSP00000343617:p.His694Tyr					ZNF606_ENST00000536132.1_Missense_Mutation_p.H604Y	p.H694Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2700	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	694					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.2080C>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	0.619	-0.821997	0.02755	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.13089	2.62;2.62	4.43	3.3	0.37823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000220	T	0.10594	0.0259	N	0.03177	-0.4	0.26869	N	0.967791	D	0.64830	0.994	P	0.55545	0.778	T	0.28870	-1.0030	10	0.20519	T	0.43	.	13.2335	0.59957	0.0:0.0:0.8405:0.1595	.	694	Q8WXB4	ZN606_HUMAN	Y	694;604	ENSP00000343617:H694Y;ENSP00000445624:H604Y	ENSP00000343617:H694Y	H	-	1	0	ZNF606	63181780	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	-0.573000	0.05874	2.427000	0.82271	0.561000	0.74099	CAC		0.418	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		7	131	0	0	0	1	0	7	131				
ACOT8	10005	broad.mit.edu	37	20	44473041	44473041	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:44473041C>G	ENST00000217455.4	-	4	597	c.507G>C	c.(505-507)aaG>aaC	p.K169N		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	169					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				ATGGGTACCTCTTTTGGAGGT	0.557																																						ENST00000217455.4																			0				kidney(2)|large_intestine(3)|lung(4)|skin(1)	10						c.(505-507)aaG>aaC		acyl-CoA thioesterase 8							72.0	70.0	71.0					20																	44473041		2203	4300	6503	SO:0001583	missense	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44473041C>G	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.507G>C	20.37:g.44473041C>G	ENSP00000217455:p.Lys169Asn						p.K169N	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN			4	597	-		Myeloproliferative disorder(115;0.0122)	169					O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	37	c.507G>C	CCDS13378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.590|9.590	1.125991|1.125991	0.20959|0.20959	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000217455|ENST00000487205	.|.	.|.	.|.	5.57|5.57	2.58|2.58	0.30949|0.30949	.|.	0.247901|.	0.46758|.	D|.	0.000263|.	T|T	0.34048|0.34048	0.0884|0.0884	N|N	0.22421|0.22421	0.69|0.69	0.31880|0.31880	N|N	0.618559|0.618559	B;P;P;B|.	0.39920|.	0.329;0.525;0.695;0.053|.	B;B;B;B|.	0.40741|.	0.07;0.186;0.339;0.082|.	T|T	0.38908|0.38908	-0.9639|-0.9639	9|5	0.36615|.	T|.	0.2|.	.|.	7.7615|7.7615	0.28955|0.28955	0.1339:0.727:0.0:0.1392|0.1339:0.727:0.0:0.1392	.|.	49;169;116;169|.	E9PRD4;B4DLF4;A8K8X9;O14734|.	.;.;.;ACOT8_HUMAN|.	N|T	169|124	.|.	ENSP00000217455:K169N|.	K|R	-|-	3|2	2|0	ACOT8|ACOT8	43906448|43906448	0.971000|0.971000	0.33674|0.33674	0.459000|0.459000	0.27081|0.27081	0.031000|0.031000	0.12232|0.12232	2.121000|2.121000	0.41977|0.41977	0.702000|0.702000	0.31825|0.31825	0.561000|0.561000	0.74099|0.74099	AAG|AGA		0.557	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		8	74	0	0	0	1	0	8	74				
SPTBN1	6711	broad.mit.edu	37	2	54849515	54849515	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:54849515G>C	ENST00000356805.4	+	9	1236	c.955G>C	c.(955-957)Gaa>Caa	p.E319Q	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E306Q	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	319					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAATGGATTGAACAAACCAT	0.413																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(916-918)Gaa>Caa		spectrin, beta, non-erythrocytic 1							155.0	150.0	152.0					2																	54849515		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54849515G>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.955G>C	2.37:g.54849515G>C	ENSP00000349259:p.Glu319Gln					SPTBN1_ENST00000356805.4_Missense_Mutation_p.E319Q	p.E306Q	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		8	1301	+			319					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.916G>C	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293175	0.95546	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.69306	-0.39;-0.39;-0.39	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.46819	1.47	0.80722	D	1	P;D	0.67145	0.883;0.996	P;D	0.77004	0.591;0.989	T	0.78866	-0.2035	10	0.59425	D	0.04	.	19.5275	0.95212	0.0:0.0:1.0:0.0	.	306;319	Q01082-3;Q01082	.;SPTB2_HUMAN	Q	319;319;306	ENSP00000349259:E319Q;ENSP00000374630:E319Q;ENSP00000334156:E306Q	ENSP00000334156:E306Q	E	+	1	0	SPTBN1	54703019	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.957000	0.87870	2.618000	0.88619	0.650000	0.86243	GAA		0.413	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			11	110	0	0	0	1	0	11	110				
ZNF658	26149	broad.mit.edu	37	9	40774518	40774518	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr9:40774518C>T	ENST00000602553.1	-	5	1051	c.757G>A	c.(757-759)Gat>Aat	p.D253N	ZNF658_ENST00000441795.1_Missense_Mutation_p.D251N|ZNF658_ENST00000377626.3_Missense_Mutation_p.D253N			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTGATTTTATCAAAGTTTTTT	0.353																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(757-759)Gat>Aat		zinc finger protein 658							133.0	133.0	133.0					9																	40774518		2203	4300	6503	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774518C>T	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.757G>A	9.37:g.40774518C>T	ENSP00000473484:p.Asp253Asn					ZNF658_ENST00000441795.1_Missense_Mutation_p.D251N|ZNF658_ENST00000377626.3_Missense_Mutation_p.D253N	p.D253N			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1051	-			253					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.757G>A	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	9.743	1.165340	0.21538	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.07800	3.16;3.33	1.81	-0.302	0.12796	.	.	.	.	.	T	0.02193	0.0068	N	0.01209	-0.955	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.16289	0.015;0.001	T	0.46624	-0.9178	9	0.18276	T	0.48	.	2.6443	0.04980	0.0:0.3924:0.2618:0.3458	.	253;253	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	N	251;253	ENSP00000408462:D251N;ENSP00000366853:D253N	ENSP00000366853:D253N	D	-	1	0	ZNF658	40764518	0.000000	0.05858	0.002000	0.10522	0.230000	0.25150	-0.354000	0.07681	-0.058000	0.13177	0.391000	0.25812	GAT		0.353	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		42	248	0	0	0	1	0	42	248				
MCM6	4175	broad.mit.edu	37	2	136615495	136615495	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:136615495G>A	ENST00000264156.2	-	10	1502	c.1442C>T	c.(1441-1443)aCc>aTc	p.T481I	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	481	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		GATGGATATGGTCTGCTGTTC	0.408																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1441-1443)aCc>aTc		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						277.0	213.0	235.0					2																	136615495		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136615495G>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1442C>T	2.37:g.136615495G>A	ENSP00000264156:p.Thr481Ile					MCM6_ENST00000492091.1_Intron	p.T481I	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	10	1502	-			481			MCM.		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1442C>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138436	0.94560	.	.	ENSG00000076003	ENST00000264156	T	0.08634	3.07	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52320	-0.8591	10	0.87932	D	0	-13.6458	19.7831	0.96426	0.0:0.0:1.0:0.0	.	481	Q14566	MCM6_HUMAN	I	481	ENSP00000264156:T481I	ENSP00000264156:T481I	T	-	2	0	MCM6	136331965	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.414000	0.97362	2.687000	0.91594	0.561000	0.74099	ACC		0.408	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		20	138	0	0	0	1	0	20	138				
ST18	9705	broad.mit.edu	37	8	53030949	53030949	+	Silent	SNP	C	C	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:53030949C>G	ENST00000276480.7	-	24	3491	c.2808G>C	c.(2806-2808)ctG>ctC	p.L936L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	936					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGATTCATTCAGTTCCTTTA	0.313																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2806-2808)ctG>ctC		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							188.0	183.0	185.0					8																	53030949		2203	4297	6500	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53030949C>G	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2808G>C	8.37:g.53030949C>G							p.L936L	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			24	3491	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	936					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.2808G>C	CCDS6149.1																																																																																				0.313	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			12	163	0	0	0	1	0	12	163				
HNMT	3176	broad.mit.edu	37	2	138771380	138771380	+	Missense_Mutation	SNP	G	G	A	rs199520450		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:138771380G>A	ENST00000280097.3	+	6	741	c.559G>A	c.(559-561)Gga>Aga	p.G187R	HNMT_ENST00000410115.1_Missense_Mutation_p.G187R|HNMT_ENST00000485653.1_3'UTR	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	187					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GAAAAAGTACGGATCACGCTT	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17080	0.0		0.0	False		,,,				2504	0.0					ENST00000280097.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(559-561)Gga>Aga		histamine N-methyltransferase	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	G	ARG/GLY	0,4406		0,0,2203	97.0	91.0	93.0		559	4.2	0.5	2		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	HNMT	NM_006895.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	187/293	138771380	1,13005	2203	4300	6503	SO:0001583	missense	3176				respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	g.chr2:138771380G>A		CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.559G>A	2.37:g.138771380G>A	ENSP00000280097:p.Gly187Arg					HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.G187R	p.G187R	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.125)	6	741	+			187					B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	ENST00000280097.3	37	c.559G>A	CCDS2181.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.698	-0.791750	0.02884	0.0	1.16E-4	ENSG00000150540	ENST00000410115;ENST00000280097	T;T	0.13196	2.61;2.61	5.98	4.15	0.48705	.	0.194048	0.53938	N	0.000050	T	0.11922	0.0290	L	0.37897	1.145	0.80722	D	1	B	0.23185	0.081	B	0.20767	0.031	T	0.04825	-1.0924	10	0.10636	T	0.68	-5.2684	16.7186	0.85404	0.0:0.2442:0.7558:0.0	.	187	P50135	HNMT_HUMAN	R	187	ENSP00000386940:G187R;ENSP00000280097:G187R	ENSP00000280097:G187R	G	+	1	0	HNMT	138487850	0.937000	0.31787	0.541000	0.28102	0.168000	0.22595	2.167000	0.42415	0.830000	0.34757	0.591000	0.81541	GGA		0.453	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1			9	51	0	0	0	1	0	9	51				
EIF4A2	1974	broad.mit.edu	37	3	186504028	186504028	+	Missense_Mutation	SNP	A	A	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:186504028A>T	ENST00000323963.5	+	6	657	c.593A>T	c.(592-594)tAt>tTt	p.Y198F	EIF4A2_ENST00000356531.5_Missense_Mutation_p.Y103F|SNORA63_ENST00000363548.1_RNA|SNORA81_ENST00000408493.2_RNA|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363450.1_RNA|SNORD2_ENST00000459163.1_RNA|SNORA4_ENST00000584302.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.Y199F			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	198	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GATCAAATCTATGAGATTTTC	0.363			T	BCL6	NHL																																	ENST00000323963.5				Dom	yes		3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""			L	BCL6		NHL		0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28						c.(592-594)tAt>tTt		eukaryotic translation initiation factor 4A2							81.0	80.0	80.0					3																	186504028		2202	4300	6502	SO:0001583	missense	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186504028A>T	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.593A>T	3.37:g.186504028A>T	ENSP00000326381:p.Tyr198Phe					EIF4A2_ENST00000356531.5_Missense_Mutation_p.Y103F|EIF4A2_ENST00000440191.2_Missense_Mutation_p.Y199F	p.Y198F			Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	6	657	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		198			Helicase ATP-binding.		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	c.593A>T	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305440	0.60305	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.15017	2.46;2.46;2.46	5.13	5.13	0.70059	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	M	0.62088	1.915	0.80722	D	1	D;D;B;B	0.71674	0.998;0.988;0.075;0.092	D;P;B;B	0.73708	0.981;0.905;0.053;0.089	T	0.13602	-1.0503	10	0.87932	D	0	-22.7157	13.2127	0.59834	1.0:0.0:0.0:0.0	.	54;103;199;198	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	F	198;199;103	ENSP00000326381:Y198F;ENSP00000398370:Y199F;ENSP00000348925:Y103F	ENSP00000326381:Y198F	Y	+	2	0	EIF4A2	187986722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.458000	0.90364	2.281000	0.76405	0.528000	0.53228	TAT		0.363	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		5	68	0	0	0	1	0	5	68				
PPP1R16B	26051	broad.mit.edu	37	20	37547206	37547206	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:37547206C>T	ENST00000299824.1	+	11	1790	c.1601C>T	c.(1600-1602)tCg>tTg	p.S534L	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.S492L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	534					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AATGGGACCTCGGTATATTAC	0.582																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1600-1602)tCg>tTg		protein phosphatase 1, regulatory subunit 16B							68.0	59.0	62.0					20																	37547206		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37547206C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1601C>T	20.37:g.37547206C>T	ENSP00000299824:p.Ser534Leu					PPP1R16B_ENST00000373331.2_Missense_Mutation_p.S492L	p.S534L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			11	1790	+		Myeloproliferative disorder(115;0.00878)	534					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1601C>T	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.103967|3.103967	0.56291|0.56291	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.71579	.|-0.35;-0.58	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.078453	.|0.53938	.|D	.|0.000055	T|T	0.58264|0.58264	0.2110|0.2110	L|L	0.29908|0.29908	0.895|0.895	0.42008|0.42008	D|D	0.990925|0.990925	.|B;B	.|0.28667	.|0.219;0.06	.|B;B	.|0.15052	.|0.012;0.012	T|T	0.55717|0.55717	-0.8097|-0.8097	5|10	.|0.25751	.|T	.|0.34	.|.	17.2316|17.2316	0.86985|0.86985	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|492;534	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	W|L	435|534;492	.|ENSP00000299824:S534L;ENSP00000362428:S492L	.|ENSP00000299824:S534L	R|S	+|+	1|2	2|0	PPP1R16B|PPP1R16B	36980620|36980620	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.697000|0.697000	0.40408|0.40408	6.732000|6.732000	0.74790|0.74790	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.582	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		9	57	0	0	0	1	0	9	57				
ZNF699	374879	broad.mit.edu	37	19	9408150	9408150	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:9408150C>G	ENST00000591998.1	-	5	520	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	ZNF699_ENST00000308650.3_Missense_Mutation_p.E98Q|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGTTGAGTCTCAAAACCTGAA	0.338																																						ENST00000591998.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(292-294)Gag>Cag		zinc finger protein 699							44.0	43.0	44.0					19																	9408150		1817	4064	5881	SO:0001583	missense	374879				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9408150C>G	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.292G>C	19.37:g.9408150C>G	ENSP00000467723:p.Glu98Gln					ZNF699_ENST00000308650.3_Missense_Mutation_p.E98Q	p.E98Q			Q32M78	ZN699_HUMAN			5	520	-			98					Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	c.292G>C	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	C	9.197	1.027485	0.19512	.	.	ENSG00000196110	ENST00000308650	T	0.08193	3.12	4.08	1.85	0.25348	.	.	.	.	.	T	0.06325	0.0163	L	0.34521	1.04	0.09310	N	1	B	0.16802	0.019	B	0.16289	0.015	T	0.40701	-0.9549	9	0.26408	T	0.33	.	6.3832	0.21546	0.1821:0.7174:0.0:0.1005	.	98	Q32M78	ZN699_HUMAN	Q	98	ENSP00000311596:E98Q	ENSP00000311596:E98Q	E	-	1	0	ZNF699	9269150	0.000000	0.05858	0.001000	0.08648	0.152000	0.21847	0.190000	0.17057	0.444000	0.26612	0.650000	0.86243	GAG		0.338	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		15	146	0	0	0	1	0	15	146				
ARSG	22901	broad.mit.edu	37	17	66416401	66416401	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:66416401G>A	ENST00000448504.2	+	12	2171	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	RP11-120M18.2_ENST00000592030.1_RNA|ARSG_ENST00000452479.2_Missense_Mutation_p.E295K|WIPI1_ENST00000589459.1_5'Flank|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	459					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCAACCTGGAAGACGATAC	0.562																																						ENST00000448504.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.(1375-1377)Gaa>Aaa		arylsulfatase G							134.0	119.0	124.0					17																	66416401		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66416401G>A	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1375G>A	17.37:g.66416401G>A	ENSP00000407193:p.Glu459Lys					ARSG_ENST00000452479.2_Missense_Mutation_p.E295K|ARSG_ENST00000582154.1_3'UTR|RP11-120M18.2_ENST00000592030.1_RNA	p.E459K	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		12	2171	+			459					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.1375G>A	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447369	0.43429	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.88	0.941	0.19519	Alkaline-phosphatase-like, core domain (1);	0.585904	0.19094	N	0.122869	T	0.27765	0.0683	N	0.20483	0.58	0.09310	N	0.999995	P	0.37061	0.58	B	0.35182	0.197	T	0.12451	-1.0547	9	0.12430	T	0.62	.	19.4332	0.94779	0.0:0.5231:0.4769:0.0	.	459	Q96EG1	ARSG_HUMAN	K	459;358	.	ENSP00000407193:E358K	E	+	1	0	ARSG	63927996	0.008000	0.16893	0.002000	0.10522	0.005000	0.04900	1.310000	0.33551	0.322000	0.23283	0.655000	0.94253	GAA		0.562	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		7	71	0	0	0	1	0	7	71				
NAV1	89796	broad.mit.edu	37	1	201763688	201763688	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:201763688C>G	ENST00000367296.4	+	15	3920	c.3500C>G	c.(3499-3501)tCa>tGa	p.S1167*	NAV1_ENST00000367302.1_Nonsense_Mutation_p.S1123*|NAV1_ENST00000295624.6_Nonsense_Mutation_p.S1167*|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Nonsense_Mutation_p.S1110*|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Nonsense_Mutation_p.S1159*|NAV1_ENST00000367295.1_Nonsense_Mutation_p.S776*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1167					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTTAATGCCTCAGAAACCACA	0.468																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(3499-3501)tCa>tGa		neuron navigator 1							69.0	71.0	70.0					1																	201763688		2203	4300	6503	SO:0001587	stop_gained	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201763688C>G	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3500C>G	1.37:g.201763688C>G	ENSP00000356265:p.Ser1167*					NAV1_ENST00000367297.4_Nonsense_Mutation_p.S1159*|NAV1_ENST00000295624.6_Nonsense_Mutation_p.S1167*|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Nonsense_Mutation_p.S776*|NAV1_ENST00000367300.3_Nonsense_Mutation_p.S1110*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.S1123*|NAV1_ENST00000469130.1_3'UTR	p.S1167*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			15	3920	+			1167					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Nonsense_Mutation	SNP	ENST00000367296.4	37	c.3500C>G	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.886464|11.886464	0.99614|0.99614	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000438083|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|.	.|.	.|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.280769	.|0.33631	.|N	.|0.004715	T|.	0.78566|.	0.4303|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.81106|.	-0.1083|.	3|.	.|0.87932	.|D	.|0	-10.0302|-10.0302	18.5721|18.5721	0.91138|0.91138	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	150|1123;1167;1167;1159;1110;692;776	.|.	.|ENSP00000295624:S1167X	Q|S	+|+	1|2	0|0	NAV1|NAV1	200030311|200030311	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.895000|0.895000	0.52256|0.52256	4.608000|4.608000	0.61141|0.61141	2.695000|2.695000	0.91970|0.91970	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.468	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		8	77	0	0	0	1	0	8	77				
P2RX5	5026	broad.mit.edu	37	17	3593925	3593925	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:3593925G>A	ENST00000225328.5	-	4	808	c.410C>T	c.(409-411)gCt>gTt	p.A137V	P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000552276.1_Missense_Mutation_p.A137V|P2RX5_ENST00000345901.3_Missense_Mutation_p.A113V|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.A137V|P2RX5_ENST00000552050.1_Missense_Mutation_p.A77V|P2RX5_ENST00000547178.1_Missense_Mutation_p.A137V|P2RX5_ENST00000551178.1_Missense_Mutation_p.A113V|P2RX5_ENST00000435558.1_Missense_Mutation_p.A137V	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	137					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CGCTTCCCCAGCGTGGCAGTC	0.647																																						ENST00000550383.1																			0											c.(409-411)gCt>gTt									58.0	54.0	55.0					17																	3593925		2203	4300	6503	SO:0001583	missense	100533970							g.chr17:3593925G>A	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.410C>T	17.37:g.3593925G>A	ENSP00000225328:p.Ala137Val					P2RX5_ENST00000552050.1_Missense_Mutation_p.A77V|P2RX5_ENST00000552276.1_Missense_Mutation_p.A137V|P2RX5_ENST00000225328.5_Missense_Mutation_p.A137V|P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000345901.3_Missense_Mutation_p.A113V|P2RX5_ENST00000547178.1_Missense_Mutation_p.A137V|P2RX5_ENST00000435558.1_Missense_Mutation_p.A137V|P2RX5_ENST00000551178.1_Missense_Mutation_p.A113V	p.A137V							4	598	-								G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	c.410C>T	CCDS11034.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719263	0.30503	.	.	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050;ENST00000440619	T;T;T;T;T;T	0.04502	3.61;3.61;3.61;3.61;3.61;3.61	4.82	1.55	0.23275	.	0.667236	0.14919	N	0.290744	T	0.04952	0.0133	L	0.58510	1.815	0.09310	N	1	B;B;B;B;B;B	0.33318	0.408;0.034;0.039;0.034;0.048;0.034	B;B;B;B;B;B	0.30943	0.122;0.029;0.06;0.047;0.099;0.062	T	0.31833	-0.9929	10	0.37606	T	0.19	-12.9634	4.0443	0.09766	0.2002:0.0:0.4748:0.325	.	77;113;137;113;137;137	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.;.;.;.;P2RX5_HUMAN;.	V	137;113;137;137;113;77;137	ENSP00000415370:A137V;ENSP00000447545:A113V;ENSP00000448355:A137V;ENSP00000225328:A137V;ENSP00000342161:A113V;ENSP00000450006:A77V	ENSP00000225328:A137V	A	-	2	0	P2RX5	3540674	0.000000	0.05858	0.027000	0.17364	0.022000	0.10575	0.209000	0.17435	1.163000	0.42636	0.563000	0.77884	GCT		0.647	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		4	75	0	0	0	1	0	4	75				
TMTC1	83857	broad.mit.edu	37	12	29670383	29670383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr12:29670383G>A	ENST00000539277.1	-	14	2204	c.2146C>T	c.(2146-2148)Cag>Tag	p.Q716*	TMTC1_ENST00000551659.1_Nonsense_Mutation_p.Q778*|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.Q740*|TMTC1_ENST00000256062.5_Nonsense_Mutation_p.Q608*|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000319685.8_5'UTR	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	716						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGCTCCCTCTGAGAAGGCTGA	0.512																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1822-1824)Cag>Tag		transmembrane and tetratricopeptide repeat containing 1							135.0	130.0	131.0					12																	29670383		2203	4300	6503	SO:0001587	stop_gained	83857					integral to membrane	binding	g.chr12:29670383G>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2146C>T	12.37:g.29670383G>A	ENSP00000442046:p.Gln716*					TMTC1_ENST00000552618.1_Nonsense_Mutation_p.Q740*|TMTC1_ENST00000539277.1_Nonsense_Mutation_p.Q716*|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.Q778*|TMTC1_ENST00000319685.8_5'UTR	p.Q608*	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			14	2295	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		716					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Nonsense_Mutation	SNP	ENST00000539277.1	37	c.1822C>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	41	9.143101	0.99080	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	.	.	.	5.63	4.73	0.59995	.	0.589459	0.19067	N	0.123620	.	.	.	.	.	.	0.33816	D	0.628496	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.6472	7.3836	0.26870	0.0:0.2032:0.5399:0.257	.	.	.	.	X	479;608;778;740;716	.	.	Q	-	1	0	TMTC1	29561650	0.947000	0.32204	0.565000	0.28409	0.419000	0.31324	4.464000	0.60134	2.649000	0.89929	0.650000	0.86243	CAG		0.512	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		10	117	0	0	0	1	0	10	117				
IFT52	51098	broad.mit.edu	37	20	42264628	42264628	+	Missense_Mutation	SNP	C	C	T	rs140986312		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:42264628C>T	ENST00000373030.3	+	11	1116	c.986C>T	c.(985-987)aCg>aTg	p.T329M	IFT52_ENST00000373039.4_Missense_Mutation_p.T329M	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	329					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGTTTGAGACGCCGCTGCCA	0.527																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(985-987)aCg>aTg		intraflagellar transport 52 homolog (Chlamydomonas)		C	MET/THR	0,4406		0,0,2203	96.0	89.0	91.0		986	4.6	1.0	20	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense	IFT52	NM_016004.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	329/438	42264628	1,13005	2203	4300	6503	SO:0001583	missense	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42264628C>T	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.986C>T	20.37:g.42264628C>T	ENSP00000362121:p.Thr329Met					IFT52_ENST00000373039.4_Missense_Mutation_p.T329M	p.T329M	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		11	1116	+		Myeloproliferative disorder(115;0.00452)	329					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	c.986C>T	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204984	0.58234	0.0	1.16E-4	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.53	4.59	0.56863	.	0.165442	0.64402	N	0.000015	T	0.63236	0.2494	M	0.82716	2.605	0.53005	D	0.999964	B	0.29886	0.26	B	0.20184	0.028	T	0.65911	-0.6053	9	0.51188	T	0.08	-7.7534	13.3224	0.60440	0.0:0.9222:0.0:0.0778	.	329	Q9Y366	IFT52_HUMAN	M	329	.	ENSP00000362121:T329M	T	+	2	0	IFT52	41698042	1.000000	0.71417	0.972000	0.41901	0.970000	0.65996	4.764000	0.62264	1.477000	0.48234	0.650000	0.86243	ACG		0.527	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		4	70	0	0	0	1	0	4	70				
MTX1	4580	broad.mit.edu	37	1	155180166	155180166	+	Silent	SNP	G	G	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:155180166G>T	ENST00000368376.3	+	2	664	c.558G>T	c.(556-558)ctG>ctT	p.L186L	MTX1_ENST00000609421.1_Silent_p.L37L|THBS3_ENST00000541990.1_5'Flank|THBS3_ENST00000368378.3_5'Flank|THBS3_ENST00000486260.1_5'Flank|THBS3_ENST00000457183.2_5'Flank|MTX1_ENST00000316721.4_Silent_p.L186L|RP11-263K19.6_ENST00000455788.1_RNA	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	186					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGCTCCACTGAAGGTACACA	0.517																																						ENST00000368376.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(556-558)ctG>ctT		metaxin 1							123.0	115.0	118.0					1																	155180166		2203	4300	6503	SO:0001819	synonymous_variant	4580				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding	g.chr1:155180166G>T		CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.558G>T	1.37:g.155180166G>T						MTX1_ENST00000316721.4_Silent_p.L186L|MTX1_ENST00000481771.1_3'UTR	p.L186L	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	664	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		186					B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Silent	SNP	ENST00000368376.3	37	c.558G>T	CCDS1100.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059775	0.55325	.	.	ENSG00000173171	ENST00000424959	.	.	.	5.74	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.0131	9.3891	0.38361	0.0:0.6244:0.2975:0.0781	.	.	.	.	L	42	.	.	X	+	2	2	MTX1	153446790	0.990000	0.36364	1.000000	0.80357	0.541000	0.35023	0.227000	0.17795	0.419000	0.25927	-0.344000	0.07964	TGA		0.517	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883		22	140	1	0	2.39556e-15	1	2.64851e-15	22	140				
CLASP1	23332	broad.mit.edu	37	2	122202539	122202539	+	Intron	SNP	C	C	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:122202539C>A	ENST00000263710.4	-	19	2302				CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000545861.1_Splice_Site|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000397587.3_Splice_Site	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1						axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GTAGTACCATCTTTAAGCAAA	0.388																																						ENST00000397587.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.e20-1		cytoplasmic linker associated protein 1							64.0	58.0	60.0					2																	122202539		1568	3582	5150	SO:0001627	intron_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122202539C>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1912+2373G>T	2.37:g.122202539C>A						CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000263710.4_Intron|CLASP1_ENST00000545861.1_Splice_Site|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000455322.2_Intron		NM_001142273.1|NM_001142274.1	NP_001135745.1|NP_001135746.1	Q7Z460	CLAP1_HUMAN			20	2302	-	Renal(3;0.0496)							B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Splice_Site	SNP	ENST00000263710.4	37			.	.	.	.	.	.	.	.	.	.	C	21.7	4.193513	0.78902	.	.	ENSG00000074054	ENST00000397587;ENST00000545861	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5733	0.95430	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLASP1	121919009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.618000	0.88619	0.563000	0.77884	.		0.388	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		5	20	1	0	0.000602214	1	0.000619619	5	20				
FAM135B	51059	broad.mit.edu	37	8	139209782	139209782	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:139209782G>T	ENST00000395297.1	-	8	970	c.800C>A	c.(799-801)cCa>cAa	p.P267Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	267										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGCAGCTCTGGGATGTCCCG	0.622										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(799-801)cCa>cAa		family with sequence similarity 135, member B							50.0	58.0	55.0					8																	139209782		2142	4255	6397	SO:0001583	missense	51059							g.chr8:139209782G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.800C>A	8.37:g.139209782G>T	ENSP00000378710:p.Pro267Gln	HNSCC(54;0.14)					p.P267Q	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		8	970	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		267					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.800C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310866	0.60414	.	.	ENSG00000147724	ENST00000395297	D	0.82344	-1.6	4.74	4.74	0.60224	.	0.060210	0.64402	D	0.000002	D	0.89908	0.6851	M	0.76574	2.34	0.49051	D	0.999749	D	0.89917	1.0	D	0.85130	0.997	D	0.90453	0.4440	10	0.62326	D	0.03	-20.7988	13.1038	0.59235	0.0:0.0:1.0:0.0	.	267	Q49AJ0	F135B_HUMAN	Q	267	ENSP00000378710:P267Q	ENSP00000276737:P267Q	P	-	2	0	FAM135B	139278964	1.000000	0.71417	0.891000	0.34965	0.430000	0.31655	6.498000	0.73679	2.473000	0.83533	0.563000	0.77884	CCA		0.622	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		7	84	1	0	2.0095e-06	1	2.15476e-06	7	84				
C6orf118	168090	broad.mit.edu	37	6	165711543	165711543	+	Silent	SNP	C	C	T	rs200182433		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr6:165711543C>T	ENST00000230301.8	-	5	1004	c.984G>A	c.(982-984)acG>acA	p.T328T	C6orf118_ENST00000543069.1_Silent_p.T224T	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	328										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCATGTCCGCCGTCTTCACCG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		15145	0.0		0.001	False		,,,				2504	0.0					ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(670-672)acG>acA		chromosome 6 open reading frame 118							102.0	83.0	89.0					6																	165711543		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165711543C>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.984G>A	6.37:g.165711543C>T						C6orf118_ENST00000230301.8_Silent_p.T328T	p.T224T			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	5	1253	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	328					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.672G>A	CCDS5288.1																																																																																				0.607	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		12	45	0	0	0	1	0	12	45				
BLOC1S4	55330	broad.mit.edu	37	4	6718341	6718341	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr4:6718341C>G	ENST00000320776.3	+	1	500	c.405C>G	c.(403-405)atC>atG	p.I135M		NM_018366.2	NP_060836.1	Q9NUP1	BL1S4_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino	135					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|platelet aggregation (GO:0070527)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)											ACAGCAGGATCGACCGGCTGG	0.701																																						ENST00000320776.3																			0											c.(403-405)atC>atG		biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino							16.0	15.0	15.0					4																	6718341		2123	4201	6324	SO:0001583	missense	55330							g.chr4:6718341C>G	BC001818	CCDS3393.1	4p16.1	2012-08-01	2012-08-01	2012-08-01	ENSG00000186222	ENSG00000186222		"""Biogenesis of lysosomal organelles complex-1 subunits"""	24206	protein-coding gene	gene with protein product		605695	"""cappuccino homolog (mouse)"""	CNO		12576321, 11110696	Standard	NM_018366		Approved	FLJ11230, BCAS4L	uc003gjp.1	Q9NUP1	OTTHUMG00000125510	ENST00000320776.3:c.405C>G	4.37:g.6718341C>G	ENSP00000318128:p.Ile135Met						p.I135M	NM_018366.2	NP_060836.1					1	500	+								Q6NVY6|Q96G84	Missense_Mutation	SNP	ENST00000320776.3	37	c.405C>G	CCDS3393.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836811	0.71373	.	.	ENSG00000186222	ENST00000320776	T	0.63255	-0.03	4.09	3.25	0.37280	.	0.204966	0.48286	D	0.000189	T	0.75796	0.3898	M	0.79258	2.445	0.47698	D	0.999497	D	0.89917	1.0	D	0.85130	0.997	T	0.76650	-0.2881	10	0.87932	D	0	-25.8636	8.4922	0.33106	0.0:0.8873:0.0:0.1127	.	135	Q9NUP1	CNO_HUMAN	M	135	ENSP00000318128:I135M	ENSP00000318128:I135M	I	+	3	3	CNO	6769242	0.999000	0.42202	0.874000	0.34290	0.972000	0.66771	0.224000	0.17738	1.029000	0.39812	0.561000	0.74099	ATC		0.701	BLOC1S4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246837.1	NM_018366		3	20	0	0	0	1	0	3	20				
FLG	2312	broad.mit.edu	37	1	152276466	152276466	+	Silent	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:152276466C>T	ENST00000368799.1	-	3	10931	c.10896G>A	c.(10894-10896)caG>caA	p.Q3632Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3632	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGCTGACTGCTGGTGGT	0.557									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10894-10896)caG>caA		filaggrin							179.0	145.0	157.0					1																	152276466		2201	4278	6479	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276466C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10896G>A	1.37:g.152276466C>T						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.Q3632Q	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10931	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3632			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.10896G>A	CCDS30860.1																																																																																				0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		69	1085	0	0	0	1	0	69	1085				
AAGAB	79719	broad.mit.edu	37	15	67524184	67524184	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr15:67524184G>A	ENST00000261880.5	-	5	607	c.503C>T	c.(502-504)gCc>gTc	p.A168V	AAGAB_ENST00000561452.1_Missense_Mutation_p.A59V|AAGAB_ENST00000542650.1_Missense_Mutation_p.A59V	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	168					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCACACATTGGCATTCAGGGC	0.368																																						ENST00000261880.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(502-504)gCc>gTc		alpha- and gamma-adaptin binding protein							256.0	248.0	251.0					15																	67524184		1931	4146	6077	SO:0001583	missense	79719				protein transport	cytoplasm		g.chr15:67524184G>A	AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.503C>T	15.37:g.67524184G>A	ENSP00000261880:p.Ala168Val					AAGAB_ENST00000561452.1_Missense_Mutation_p.A59V|AAGAB_ENST00000542650.1_Missense_Mutation_p.A59V	p.A168V	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN			5	607	-			168					B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	c.503C>T	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244586	0.95272	.	.	ENSG00000103591	ENST00000261880;ENST00000542650	T;T	0.60672	0.17;0.17	5.21	4.3	0.51218	.	0.099675	0.64402	D	0.000002	T	0.71978	0.3404	M	0.69823	2.125	0.80722	D	1	D	0.61697	0.99	D	0.63033	0.91	T	0.75906	-0.3152	10	0.66056	D	0.02	-10.6421	14.0826	0.64934	0.0724:0.0:0.9276:0.0	.	168	Q6PD74	AAGAB_HUMAN	V	168;59	ENSP00000261880:A168V;ENSP00000440735:A59V	ENSP00000261880:A168V	A	-	2	0	AAGAB	65311238	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.140000	0.94607	1.419000	0.47118	0.650000	0.86243	GCC		0.368	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		24	411	0	0	0	1	0	24	411				
SLC14A2	8170	broad.mit.edu	37	18	43207085	43207085	+	Nonsense_Mutation	SNP	T	T	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr18:43207085T>A	ENST00000255226.6	+	4	1310	c.494T>A	c.(493-495)tTa>tAa	p.L165*	SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.L165*	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	165					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCTCGACCTTAACAGCTCTC	0.512																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(493-495)tTa>tAa		solute carrier family 14 (urea transporter), member 2							108.0	118.0	115.0					18																	43207085		2203	4300	6503	SO:0001587	stop_gained	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43207085T>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.494T>A	18.37:g.43207085T>A	ENSP00000255226:p.Leu165*					SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.L165*	p.L165*	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			4	1310	+			165					A8K8Q7|Q2TBD6|Q96PH5	Nonsense_Mutation	SNP	ENST00000255226.6	37	c.494T>A	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	T	42	9.574302	0.99208	.	.	ENSG00000132874	ENST00000255226;ENST00000323329	.	.	.	5.22	5.22	0.72569	.	0.235426	0.36555	N	0.002536	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5678	15.2645	0.73651	0.0:0.0:0.0:1.0	.	.	.	.	X	165	.	ENSP00000255226:L165X	L	+	2	0	SLC14A2	41461083	0.996000	0.38824	0.995000	0.50966	0.075000	0.17131	7.159000	0.77483	2.194000	0.70268	0.460000	0.39030	TTA		0.512	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			21	136	0	0	0	1	0	21	136				
SLCO1B1	10599	broad.mit.edu	37	12	21375252	21375252	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr12:21375252G>C	ENST00000256958.2	+	13	1797	c.1701G>C	c.(1699-1701)ttG>ttC	p.L567F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	567					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	AACCTGAATTGAAATCACTTG	0.264																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1699-1701)ttG>ttC		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						105.0	102.0	103.0					12																	21375252		2203	4300	6503	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21375252G>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1701G>C	12.37:g.21375252G>C	ENSP00000256958:p.Leu567Phe						p.L567F	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			13	1797	+			567					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1701G>C	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842678	0.51057	.	.	ENSG00000134538	ENST00000256958	T	0.39997	1.05	3.61	3.61	0.41365	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.072897	0.56097	D	0.000026	T	0.57844	0.2081	M	0.85197	2.74	0.39136	D	0.961947	P	0.43392	0.805	P	0.50617	0.646	T	0.67726	-0.5596	10	0.56958	D	0.05	.	12.5074	0.55989	0.0:0.0:1.0:0.0	.	567	Q9Y6L6	SO1B1_HUMAN	F	567	ENSP00000256958:L567F	ENSP00000256958:L567F	L	+	3	2	SLCO1B1	21266519	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	1.585000	0.36600	1.714000	0.51371	0.305000	0.20034	TTG		0.264	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		6	80	0	0	0	1	0	6	80				
CYP2R1	120227	broad.mit.edu	37	11	14902075	14902075	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:14902075C>T	ENST00000334636.5	-	3	653	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	203					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TCGGTGTCTTCATAAGTGAAT	0.363																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000334636.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(607-609)Gaa>Aaa		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						112.0	102.0	105.0					11																	14902075		2200	4293	6493	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14902075C>T	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.607G>A	11.37:g.14902075C>T	ENSP00000334592:p.Glu203Lys					CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	p.E203K	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN			3	653	-			203					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.607G>A	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626668	0.87560	.	.	ENSG00000186104	ENST00000334636	T	0.69306	-0.39	5.9	5.9	0.94986	.	0.047014	0.85682	D	0.000000	T	0.65770	0.2723	L	0.39085	1.19	0.58432	D	0.999999	D;B	0.56035	0.974;0.034	P;B	0.49799	0.622;0.098	T	0.58405	-0.7642	10	0.12766	T	0.61	.	20.2664	0.98460	0.0:1.0:0.0:0.0	.	88;203	E9PS56;Q6VVX0	.;CP2R1_HUMAN	K	203	ENSP00000334592:E203K	ENSP00000334592:E203K	E	-	1	0	CYP2R1	14858651	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.964000	0.63701	2.786000	0.95864	0.561000	0.74099	GAA		0.363	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		16	73	0	0	0	1	0	16	73				
L3MBTL3	84456	broad.mit.edu	37	6	130363878	130363878	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr6:130363878G>A	ENST00000529410.1	+	5	513	c.34G>A	c.(34-36)Gag>Aag	p.E12K	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.E12K|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.E12K|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.E12K|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.E12K|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.E12K			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	12					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AAGTGGTCAAGAGTTTGATGT	0.378																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(34-36)Gag>Aag		l(3)mbt-like 3 (Drosophila)							178.0	158.0	165.0					6																	130363878		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130363878G>A	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.34G>A	6.37:g.130363878G>A	ENSP00000431962:p.Glu12Lys					L3MBTL3_ENST00000368136.2_Missense_Mutation_p.E12K|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.E12K|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.E12K|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.E12K|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.E12K	p.E12K			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	5	513	+			12					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.34G>A	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784554	0.90282	.	.	ENSG00000198945	ENST00000529410;ENST00000526087;ENST00000533560;ENST00000361794;ENST00000528385;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T;T	0.50548	2.46;2.44;2.46;0.74;2.44;2.44;2.46	5.7	5.7	0.88788	.	0.050838	0.85682	D	0.000000	T	0.40595	0.1123	L	0.56769	1.78	0.40302	D	0.978629	P;P	0.49559	0.925;0.9	P;P	0.47162	0.54;0.521	T	0.14896	-1.0456	10	0.25106	T	0.35	.	16.7465	0.85474	0.0:0.0:1.0:0.0	.	12;12	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	K	12	ENSP00000431962:E12K;ENSP00000437185:E12K;ENSP00000354526:E12K;ENSP00000433257:E12K;ENSP00000357121:E12K;ENSP00000436706:E12K;ENSP00000357118:E12K	ENSP00000354526:E12K	E	+	1	0	L3MBTL3	130405571	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.310000	0.72830	2.687000	0.91594	0.591000	0.81541	GAG		0.378	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		14	81	0	0	0	1	0	14	81				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657830	72657830	+	RNA	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr7:72657830G>C	ENST00000425256.1	-	0	2081									GTF2I repeat domain containing 2 pseudogene 1																		gacgatttgggagtgtccttg	0.507																																						ENST00000425256.1																			0																																																			401375							g.chr7:72657830G>C	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657830G>C								NR_002164.1						0	2081	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		35	337	0	0	0	1	0	35	337				
FAM160A2	84067	broad.mit.edu	37	11	6238878	6238878	+	Silent	SNP	G	G	C	rs200320410	byFrequency	TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:6238878G>C	ENST00000449352.2	-	9	2201	c.1938C>G	c.(1936-1938)gcC>gcG	p.A646A	FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000524416.1_Silent_p.A646A|FAM160A2_ENST00000265978.4_Silent_p.A660A			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	646					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAACCTTCTTGGCCCCCTCAG	0.677																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1978-1980)gcC>gcG		family with sequence similarity 160, member A2							49.0	51.0	50.0					11																	6238878		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6238878G>C		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1938C>G	11.37:g.6238878G>C						FAM160A2_ENST00000449352.2_Silent_p.A646A|FAM160A2_ENST00000524416.1_Silent_p.A646A	p.A660A	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			9	2338	-			646					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.1980C>G	CCDS44530.1																																																																																				0.677	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		6	86	0	0	0	1	0	6	86				
GUCY1A2	2977	broad.mit.edu	37	11	106810842	106810842	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:106810842C>T	ENST00000526355.2	-	4	1018	c.550G>A	c.(550-552)Gag>Aag	p.E184K	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.E184K|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.E184K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	184					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CTCTCATTCTCATGAAAGCAT	0.363																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(550-552)Gag>Aag		guanylate cyclase 1, soluble, alpha 2							51.0	59.0	56.0					11																	106810842		2199	4296	6495	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810842C>T	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.550G>A	11.37:g.106810842C>T	ENSP00000431245:p.Glu184Lys					GUCY1A2_ENST00000347596.2_Missense_Mutation_p.E184K|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.E184K	p.E184K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1018	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	184					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.550G>A	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195403	0.58126	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	T;T;T	0.42513	0.97;0.97;0.97	5.17	5.17	0.71159	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.43747	U	0.000539	T	0.55497	0.1924	M	0.64170	1.965	0.80722	D	1	P;D;B	0.54772	0.505;0.968;0.334	B;P;B	0.55749	0.239;0.783;0.26	T	0.50857	-0.8778	10	0.27785	T	0.31	.	17.6474	0.88152	0.0:1.0:0.0:0.0	.	184;184;184	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	K	184	ENSP00000431245:E184K;ENSP00000282249:E184K;ENSP00000344874:E184K	ENSP00000282249:E184K	E	-	1	0	GUCY1A2	106316052	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.725000	0.84808	2.400000	0.81607	0.591000	0.81541	GAG		0.363	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			12	92	0	0	0	1	0	12	92				
RP1	6101	broad.mit.edu	37	8	55540767	55540767	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:55540767C>G	ENST00000220676.1	+	4	4473	c.4325C>G	c.(4324-4326)cCa>cGa	p.P1442R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1442					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGGAAGAACCACGGACTTCT	0.343																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4324-4326)cCa>cGa		retinitis pigmentosa 1 (autosomal dominant)							56.0	59.0	58.0					8																	55540767		2202	4299	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540767C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4325C>G	8.37:g.55540767C>G	ENSP00000220676:p.Pro1442Arg						p.P1442R	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4473	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1442						Missense_Mutation	SNP	ENST00000220676.1	37	c.4325C>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766913	0.31320	.	.	ENSG00000104237	ENST00000220676	T	0.63417	-0.04	5.48	4.6	0.57074	.	0.160181	0.29699	N	0.011421	T	0.40839	0.1133	N	0.08118	0	0.27039	N	0.964051	B	0.31519	0.327	B	0.26202	0.067	T	0.43393	-0.9394	10	0.87932	D	0	-1.5068	12.3259	0.55011	0.0:0.9222:0.0:0.0778	.	1442	P56715	RP1_HUMAN	R	1442	ENSP00000220676:P1442R	ENSP00000220676:P1442R	P	+	2	0	RP1	55703320	1.000000	0.71417	0.989000	0.46669	0.816000	0.46133	2.540000	0.45727	1.309000	0.44985	0.655000	0.94253	CCA		0.343	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		22	102	0	0	0	1	0	22	102				
ARHGAP29	9411	broad.mit.edu	37	1	94655540	94655540	+	Missense_Mutation	SNP	G	G	T	rs371413908		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:94655540G>T	ENST00000260526.6	-	13	1563	c.1381C>A	c.(1381-1383)Caa>Aaa	p.Q461K	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	461					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTGTACTCTTGGCCTGGGTCA	0.398																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1381-1383)Caa>Aaa		Rho GTPase activating protein 29							89.0	86.0	87.0					1																	94655540		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94655540G>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1381C>A	1.37:g.94655540G>T	ENSP00000260526:p.Gln461Lys					ARHGAP29_ENST00000482481.1_5'UTR	p.Q461K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	13	1563	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	461					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.1381C>A	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406426	0.62399	.	.	ENSG00000137962	ENST00000260526	T	0.39056	1.1	6.16	4.2	0.49525	.	0.000000	0.36703	N	0.002442	T	0.30634	0.0771	M	0.71871	2.18	0.80722	D	1	B;B	0.31174	0.082;0.311	B;B	0.29524	0.053;0.103	T	0.34403	-0.9830	10	0.52906	T	0.07	-7.8926	15.7375	0.77856	0.0:0.0:0.7516:0.2484	.	461;461	F8VWZ8;Q52LW3	.;RHG29_HUMAN	K	461	ENSP00000260526:Q461K	ENSP00000260526:Q461K	Q	-	1	0	ARHGAP29	94428128	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	2.841000	0.48223	1.571000	0.49722	0.650000	0.86243	CAA		0.398	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		13	105	1	0	0.00244969	1	0.00250601	13	105				
GCLC	2729	broad.mit.edu	37	6	53374046	53374046	+	Silent	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr6:53374046C>T	ENST00000229416.6	-	7	1239	c.756G>A	c.(754-756)gtG>gtA	p.V252V	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	252					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	CTTGGAATGTCACCTGTTTAA	0.413																																						ENST00000229416.6																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(754-756)gtG>gtA		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						90.0	86.0	87.0					6																	53374046		2203	4300	6503	SO:0001819	synonymous_variant	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53374046C>T	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.756G>A	6.37:g.53374046C>T							p.V252V	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN			7	1239	-	Lung NSC(77;0.0137)		252					Q14399	Silent	SNP	ENST00000229416.6	37	c.756G>A	CCDS4952.1																																																																																				0.413	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			11	87	0	0	0	1	0	11	87				
MUC4	4585	broad.mit.edu	37	3	195512843	195512843	+	Missense_Mutation	SNP	C	C	T	rs551809935		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:195512843C>T	ENST00000463781.3	-	2	6067	c.5608G>A	c.(5608-5610)Gcc>Acc	p.A1870T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1870T|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGAGGTGGCGTGACCTGTG	0.562													.|||	1	0.000199681	0.0008	0.0	5008	,	,		33917	0.0		0.0	False		,,,				2504	0.0					ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(5608-5610)Gcc>Acc		mucin 4, cell surface associated							64.0	49.0	54.0					3																	195512843		692	1590	2282	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512843C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5608G>A	3.37:g.195512843C>T	ENSP00000417498:p.Ala1870Thr					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1870T	p.A1870T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6067	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	628					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.5608G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	4.707	0.131474	0.08981	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31247	1.5;1.5	1.13	-2.25	0.06888	.	0.000000	0.25514	N	0.030158	T	0.12732	0.0309	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.16778	-1.0391	9	.	.	.	.	2.743	0.05259	0.0:0.3122:0.255:0.4328	.	1870	E7ESK3	.	T	1870	ENSP00000417498:A1870T;ENSP00000420243:A1870T	.	A	-	1	0	MUC4	196997238	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-2.300000	0.01138	-1.309000	0.02315	-1.780000	0.00649	GCC		0.562	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	15	0	0	0	1	0	3	15				
TAS1R1	80835	broad.mit.edu	37	1	6639282	6639282	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:6639282G>C	ENST00000333172.6	+	6	2357	c.2164G>C	c.(2164-2166)Gag>Cag	p.E722Q	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.E468Q|ZBTB48_ENST00000377674.4_5'Flank	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	722					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGAGTGCACAGAGACCAACTC	0.567																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(2164-2166)Gag>Cag		taste receptor, type 1, member 1							150.0	123.0	132.0					1																	6639282		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639282G>C		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2164G>C	1.37:g.6639282G>C	ENSP00000331867:p.Glu722Gln					TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.E468Q	p.E722Q	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2357	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	722					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.2164G>C	CCDS81.1	.	.	.	.	.	.	.	.	.	.	G	3.940	-0.014312	0.07681	.	.	ENSG00000173662	ENST00000333172;ENST00000351136	D;D	0.88586	-2.4;-2.4	5.18	-0.94	0.10405	GPCR, family 3, C-terminal (2);	0.462443	0.24458	N	0.038342	D	0.86301	0.5900	M	0.84433	2.695	0.21147	N	0.99977	B;B	0.33637	0.42;0.063	B;B	0.32211	0.142;0.043	T	0.76748	-0.2845	10	0.39692	T	0.17	.	7.3126	0.26483	0.2793:0.2317:0.489:0.0	.	468;722	Q7RTX1-2;Q7RTX1	.;TS1R1_HUMAN	Q	722;468	ENSP00000331867:E722Q;ENSP00000312558:E468Q	ENSP00000331867:E722Q	E	+	1	0	TAS1R1	6561869	0.003000	0.15002	0.103000	0.21229	0.169000	0.22640	-0.005000	0.12855	-0.063000	0.13065	0.591000	0.81541	GAG		0.567	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			8	53	0	0	0	1	0	8	53				
SLC7A11	23657	broad.mit.edu	37	4	139100509	139100509	+	Missense_Mutation	SNP	G	G	A	rs149003210		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr4:139100509G>A	ENST00000280612.5	-	11	1585	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F	SLC7A11-AS1_ENST00000510767.1_RNA	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	436					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	ACCATGAAGAGGCATGTGAAG	0.448																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(1306-1308)Ctc>Ttc		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	G	PHE/LEU	2,4404	2.1+/-5.4	0,2,2201	96.0	90.0	92.0		1306	-3.4	0.2	4	dbSNP_134	92	0,8600		0,0,4300	yes	missense	SLC7A11	NM_014331.3	22	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	436/502	139100509	2,13004	2203	4300	6503	SO:0001583	missense	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139100509G>A	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1306C>T	4.37:g.139100509G>A	ENSP00000280612:p.Leu436Phe						p.L436F	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN			11	1585	-	all_hematologic(180;0.166)		436					A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	c.1306C>T	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945131	0.34283	4.54E-4	0.0	ENSG00000151012	ENST00000280612	D	0.86562	-2.14	5.18	-3.44	0.04796	.	0.433888	0.27340	N	0.019804	T	0.77232	0.4100	L	0.42008	1.315	0.36120	D	0.845415	B	0.06786	0.001	B	0.12156	0.007	T	0.57820	-0.7745	10	0.37606	T	0.19	.	7.4928	0.27471	0.4096:0.0:0.483:0.1073	.	436	Q9UPY5	XCT_HUMAN	F	436	ENSP00000280612:L436F	ENSP00000280612:L436F	L	-	1	0	SLC7A11	139319959	1.000000	0.71417	0.199000	0.23439	0.957000	0.61999	0.816000	0.27267	-0.698000	0.05085	0.591000	0.81541	CTC		0.448	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			35	62	0	0	0	1	0	35	62				
NPM1	4869	broad.mit.edu	37	5	170819713	170819713	+	Splice_Site	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:170819713G>A	ENST00000296930.5	+	5	653		c.e5-1		NPM1_ENST00000393820.2_Splice_Site|NPM1_ENST00000517671.1_Splice_Site|NPM1_ENST00000351986.6_Splice_Site	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)						cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTGTATTTTAGCTGTGGAGGA	0.383			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	ENST00000296930.5				Dom	yes		5	5q35	4869	"""T, F """	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""			L	"""ALK, RARA, MLF1"""		"""NHL, APL, AML"""	NPM1/ALK(632)	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269						c.e5-1		nucleophosmin (nucleolar phosphoprotein B23, numatrin)							42.0	47.0	45.0					5																	170819713		2198	4299	6497	SO:0001630	splice_region_variant	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170819713G>A	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.353-1G>A	5.37:g.170819713G>A						NPM1_ENST00000393820.2_Splice_Site|NPM1_ENST00000517671.1_Splice_Site|NPM1_ENST00000351986.6_Splice_Site		NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	653	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)						A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Splice_Site	SNP	ENST00000296930.5	37		CCDS4376.1	.	.	.	.	.	.	.	.	.	.	.	15.84	2.953181	0.53293	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000521672;ENST00000351986;ENST00000393820	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4802	0.75521	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPM1	170752318	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	5.915000	0.69973	1.801000	0.52704	0.484000	0.47621	.		0.383	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520	Intron	5	22	0	0	0	1	0	5	22				
TSGA10	80705	broad.mit.edu	37	2	99725295	99725295	+	Splice_Site	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:99725295C>T	ENST00000393483.3	-	7	1055		c.e7+1		TSGA10_ENST00000355053.4_Splice_Site|TSGA10_ENST00000478090.1_Splice_Site|TSGA10_ENST00000539964.1_Splice_Site|TSGA10_ENST00000542655.1_Splice_Site|TSGA10_ENST00000410001.1_Splice_Site	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TGTAAGTTTACCTGTTCATAA	0.323																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.e7+1		testis specific, 10							55.0	55.0	55.0					2																	99725295		2202	4299	6501	SO:0001630	splice_region_variant	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99725295C>T	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.210+1G>A	2.37:g.99725295C>T						TSGA10_ENST00000355053.4_Splice_Site|TSGA10_ENST00000539964.1_Splice_Site|TSGA10_ENST00000410001.1_Splice_Site|TSGA10_ENST00000542655.1_Splice_Site|TSGA10_ENST00000478090.1_Splice_Site		NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			7	1055	-								B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Splice_Site	SNP	ENST00000393483.3	37		CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739689	0.49045	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5031	0.44817	0.0:0.9051:0.0:0.0949	.	.	.	.	.	-1	.	.	.	-	.	.	TSGA10	99091727	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	6.228000	0.72288	2.339000	0.79563	0.491000	0.48974	.		0.323	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911	Intron	21	48	0	0	0	1	0	21	48				
AP2M1	1173	broad.mit.edu	37	3	183899568	183899568	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:183899568C>A	ENST00000292807.5	+	8	940	c.792C>A	c.(790-792)agC>agA	p.S264R	AP2M1_ENST00000382456.3_Missense_Mutation_p.S262R|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Missense_Mutation_p.S262R|AP2M1_ENST00000411763.2_Missense_Mutation_p.S289R|AP2M1_ENST00000461733.1_3'UTR	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	264	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGCATCAGCTTTATCCCGC	0.557																																						ENST00000382456.3																			0				endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(784-786)agC>agA		adaptor-related protein complex 2, mu 1 subunit							99.0	100.0	100.0					3																	183899568		2153	4266	6419	SO:0001583	missense	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183899568C>A	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.792C>A	3.37:g.183899568C>A	ENSP00000292807:p.Ser264Arg					AP2M1_ENST00000439647.1_Missense_Mutation_p.S262R|AP2M1_ENST00000292807.5_Missense_Mutation_p.S264R|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Missense_Mutation_p.S289R|AP2M1_ENST00000461733.1_3'UTR	p.S262R	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		7	1100	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		264			MHD.		A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	ENST00000292807.5	37	c.786C>A	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632184	0.67015	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647;ENST00000432591	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.38	3.56	0.40772	Clathrin adaptor, mu subunit, conserved site (1);Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.992;1.0	T	0.64101	-0.6486	10	0.87932	D	0	.	12.296	0.54847	0.0:0.8609:0.0:0.1391	.	154;134;264;289;262	B7Z4N2;B4DTI4;Q96CW1;E9PFW3;Q96CW1-2	.;.;AP2M1_HUMAN;.;.	R	262;289;264;204;249;262;193	ENSP00000371894:S262R;ENSP00000403362:S289R;ENSP00000292807:S264R;ENSP00000409081:S262R;ENSP00000395438:S193R	ENSP00000292807:S264R	S	+	3	2	AP2M1	185382262	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.356000	0.44116	1.509000	0.48786	-0.136000	0.14681	AGC		0.557	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		4	94	1	0	0.000602214	1	0.000619619	4	94				
ZNF606	80095	broad.mit.edu	37	19	58490065	58490065	+	Silent	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:58490065G>A	ENST00000341164.4	-	7	2603	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	ZNF606_ENST00000536132.1_Silent_p.F571F	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AGCTCTGACTGAAGGATTTTC	0.408																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1981-1983)ttC>ttT		zinc finger protein 606							95.0	88.0	90.0					19																	58490065		2203	4300	6503	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490065G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1983C>T	19.37:g.58490065G>A						ZNF606_ENST00000536132.1_Silent_p.F571F	p.F661F	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2603	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	661					A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.1983C>T	CCDS12968.1																																																																																				0.408	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		16	123	0	0	0	1	0	16	123				
GCLC	2729	broad.mit.edu	37	6	53374003	53374003	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr6:53374003C>T	ENST00000229416.6	-	7	1282	c.799G>A	c.(799-801)Gat>Aat	p.D267N	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	267					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	GCCAACTGATCATAAAGGTAT	0.358																																						ENST00000229416.6																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(799-801)Gat>Aat		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						97.0	92.0	94.0					6																	53374003		2203	4300	6503	SO:0001583	missense	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53374003C>T	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.799G>A	6.37:g.53374003C>T	ENSP00000229416:p.Asp267Asn						p.D267N	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN			7	1282	-	Lung NSC(77;0.0137)		267					Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	c.799G>A	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	C	35	5.527430	0.96431	.	.	ENSG00000001084	ENST00000229416	T	0.80909	-1.43	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.92479	0.7612	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94317	0.7550	10	0.87932	D	0	.	19.0314	0.92959	0.0:1.0:0.0:0.0	.	267	P48506	GSH1_HUMAN	N	267	ENSP00000229416:D267N	ENSP00000229416:D267N	D	-	1	0	GCLC	53481962	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.578000	0.87016	0.557000	0.71058	GAT		0.358	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			14	104	0	0	0	1	0	14	104				
CCDC141	285025	broad.mit.edu	37	2	179732769	179732769	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:179732769G>A	ENST00000420890.2	-	16	2675	c.2558C>T	c.(2557-2559)tCa>tTa	p.S853L	CCDC141_ENST00000295723.5_Missense_Mutation_p.S278L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	853										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTGCACTGATGAGATGATGTC	0.498																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2557-2559)tCa>tTa		coiled-coil domain containing 141							122.0	106.0	111.0					2																	179732769		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179732769G>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2558C>T	2.37:g.179732769G>A	ENSP00000395995:p.Ser853Leu					CCDC141_ENST00000295723.5_Missense_Mutation_p.S278L	p.S853L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		16	2675	-			278			Ig-like.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.2558C>T		.	.	.	.	.	.	.	.	.	.	G	22.7	4.321650	0.81580	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.49432	0.78;1.37;1.37;1.37	5.76	5.76	0.90799	.	0.000000	0.49305	D	0.000142	T	0.59715	0.2214	L	0.34521	1.04	0.36792	D	0.88489	D	0.89917	1.0	D	0.87578	0.998	T	0.63238	-0.6682	10	0.51188	T	0.08	-6.1883	17.2572	0.87060	0.0:0.0:1.0:0.0	.	278	Q6ZP82	CC141_HUMAN	L	853;297;278;853	ENSP00000395995:S853L;ENSP00000344627:S297L;ENSP00000295723:S278L;ENSP00000390190:S853L	ENSP00000295723:S278L	S	-	2	0	CCDC141	179441014	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.711000	0.68400	2.880000	0.98712	0.650000	0.86243	TCA		0.498	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		13	76	0	0	0	1	0	13	76				
GDI1	2664	broad.mit.edu	37	X	153670499	153670499	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chrX:153670499G>T	ENST00000447750.2	+	9	1368	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S	FAM50A_ENST00000393600.3_5'Flank|GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	345					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAACGTGGCGGCCCAGGGCAA	0.587																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(1033-1035)Gcc>Tcc		GDP dissociation inhibitor 1							71.0	67.0	68.0					X																	153670499		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153670499G>T	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.1033G>T	X.37:g.153670499G>T	ENSP00000394071:p.Ala345Ser					GDI1_ENST00000465640.1_3'UTR	p.A345S	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			9	1368	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		345					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.1033G>T	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072634	0.36566	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.58506	0.33	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	N	0.25060	0.705	0.80722	D	1	B	0.16396	0.017	B	0.28991	0.097	T	0.43718	-0.9374	10	0.44086	T	0.13	-12.6619	15.0569	0.71921	0.0:0.0:1.0:0.0	.	345	P31150	GDIA_HUMAN	S	345;329	ENSP00000394071:A345S	ENSP00000358756:A329S	A	+	1	0	GDI1	153323693	1.000000	0.71417	0.070000	0.20053	0.315000	0.28087	9.686000	0.98664	2.142000	0.66516	0.436000	0.28706	GCC		0.587	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		99	48	1	0	6.00224e-42	1	6.76201e-42	99	48				
TGFB3	7043	broad.mit.edu	37	14	76429803	76429803	+	Missense_Mutation	SNP	C	C	T	rs547264290		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr14:76429803C>T	ENST00000238682.3	-	5	1079	c.782G>A	c.(781-783)cGt>cAt	p.R261H	TGFB3_ENST00000556285.1_Missense_Mutation_p.R261H	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	261					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CAGATCTCCACGGCCATGGTC	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17967	0.0		0.0	False		,,,				2504	0.0					ENST00000238682.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(781-783)cGt>cAt		transforming growth factor, beta 3							110.0	96.0	101.0					14																	76429803		2203	4300	6503	SO:0001583	missense	7043				cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr14:76429803C>T		CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"""Endogenous ligands"""	11769	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-3"""	190230	"""arrhythmogenic right ventricular dysplasia 1"""	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.782G>A	14.37:g.76429803C>T	ENSP00000238682:p.Arg261His					TGFB3_ENST00000556285.1_Missense_Mutation_p.R261H	p.R261H	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0169)	5	1079	-			261					Q8WV88	Missense_Mutation	SNP	ENST00000238682.3	37	c.782G>A	CCDS9846.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406641	0.83230	.	.	ENSG00000119699	ENST00000238682;ENST00000556285	T;T	0.78246	-1.16;-0.46	5.25	5.25	0.73442	.	0.252856	0.41938	D	0.000788	D	0.86347	0.5911	M	0.63843	1.955	0.53005	D	0.999969	D	0.76494	0.999	D	0.75020	0.985	D	0.87240	0.2266	10	0.62326	D	0.03	-17.6266	17.0291	0.86456	0.0:1.0:0.0:0.0	.	261	P10600	TGFB3_HUMAN	H	261	ENSP00000238682:R261H;ENSP00000451110:R261H	ENSP00000238682:R261H	R	-	2	0	TGFB3	75499556	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.493000	0.73658	2.469000	0.83416	0.561000	0.74099	CGT		0.577	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413685.1	NM_003239		10	97	0	0	0	1	0	10	97				
VCAN	1462	broad.mit.edu	37	5	82816337	82816337	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:82816337G>C	ENST00000265077.3	+	7	2777	c.2212G>C	c.(2212-2214)Gag>Cag	p.E738Q	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E738Q|VCAN_ENST00000512590.2_Missense_Mutation_p.E690Q|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	738	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCATGTTACAGAGTCTTCTGT	0.383																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2212-2214)Gag>Cag		versican							71.0	73.0	72.0					5																	82816337		2202	4300	6502	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816337G>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2212G>C	5.37:g.82816337G>C	ENSP00000265077:p.Glu738Gln					VCAN_ENST00000512590.2_Missense_Mutation_p.E690Q|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E738Q|VCAN_ENST00000343200.5_Intron	p.E738Q	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2777	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	738			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2212G>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	9.890	1.203922	0.22121	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.26518	1.73;1.73;1.73	5.12	3.32	0.38043	.	0.682670	0.12726	N	0.444251	T	0.25419	0.0618	M	0.61703	1.905	0.09310	N	1	P;B	0.42692	0.787;0.243	B;B	0.39258	0.295;0.06	T	0.08452	-1.0721	10	0.35671	T	0.21	.	8.3307	0.32184	0.0835:0.1555:0.761:0.0	.	738;738	P13611-3;P13611	.;CSPG2_HUMAN	Q	738;738;690	ENSP00000265077:E738Q;ENSP00000342768:E738Q;ENSP00000425959:E690Q	ENSP00000265077:E738Q	E	+	1	0	VCAN	82852093	0.013000	0.17824	0.001000	0.08648	0.235000	0.25334	1.480000	0.35464	0.538000	0.28769	0.655000	0.94253	GAG		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		7	76	0	0	0	1	0	7	76				
GPR149	344758	broad.mit.edu	37	3	154147055	154147055	+	Missense_Mutation	SNP	A	A	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:154147055A>G	ENST00000389740.2	-	1	449	c.350T>C	c.(349-351)cTc>cCc	p.L117P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	117					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTTGCTAGAGAGGCCCTGGCA	0.512																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(349-351)cTc>cCc		G protein-coupled receptor 149							62.0	65.0	64.0					3																	154147055		1978	4183	6161	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154147055A>G	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.350T>C	3.37:g.154147055A>G	ENSP00000374390:p.Leu117Pro						p.L117P	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	449	-			117						Missense_Mutation	SNP	ENST00000389740.2	37	c.350T>C	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.083856	0.76642	.	.	ENSG00000174948	ENST00000389740	T	0.73258	-0.73	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.196965	0.44097	D	0.000497	T	0.78824	0.4344	L	0.47716	1.5	0.80722	D	1	D	0.65815	0.995	D	0.63283	0.913	T	0.80995	-0.1133	10	0.87932	D	0	-16.428	15.9204	0.79562	1.0:0.0:0.0:0.0	.	117	Q86SP6	GP149_HUMAN	P	117	ENSP00000374390:L117P	ENSP00000374390:L117P	L	-	2	0	GPR149	155629749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.544000	0.90654	2.164000	0.68074	0.533000	0.62120	CTC		0.512	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		11	110	0	0	0	1	0	11	110				
PLEC	5339	broad.mit.edu	37	8	144995483	144995483	+	Missense_Mutation	SNP	C	C	T	rs200814155	byFrequency	TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:144995483C>T	ENST00000322810.4	-	32	9086	c.8917G>A	c.(8917-8919)Gac>Aac	p.D2973N	PLEC_ENST00000354958.2_Missense_Mutation_p.D2814N|PLEC_ENST00000357649.2_Missense_Mutation_p.D2840N|PLEC_ENST00000527096.1_Missense_Mutation_p.D2859N|PLEC_ENST00000356346.3_Missense_Mutation_p.D2822N|PLEC_ENST00000436759.2_Missense_Mutation_p.D2863N|PLEC_ENST00000398774.2_Missense_Mutation_p.D2804N|PLEC_ENST00000345136.3_Missense_Mutation_p.D2836N|PLEC_ENST00000354589.3_Missense_Mutation_p.D2836N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2973	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.D2973N(1)|p.D2836N(1)|p.D2863N(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCTCCTCGTCGAAGTAGCCG	0.667													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18707	0.0		0.001	False		,,,				2504	0.0					ENST00000322810.4																			3	Substitution - Missense(3)	p.D2973N(1)|p.D2836N(1)|p.D2863N(1)	lung(3)	NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8917-8919)Gac>Aac		plectin		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	3,4015		0,3,2006	63.0	70.0	68.0		8587,8464,8440,8917,8410,8506,8518,8506	3.2	1.0	8		68	20,8308		0,20,4144	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	23,23,23,23,23,23,23,23	0,23,6150	TT,TC,CC		0.2402,0.0747,0.1863	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2863/4575,2822/4534,2814/4526,2973/4685,2804/4516,2836/4548,2840/4552,2836/4548	144995483	23,12323	2009	4164	6173	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995483C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8917G>A	8.37:g.144995483C>T	ENSP00000323856:p.Asp2973Asn					PLEC_ENST00000345136.3_Missense_Mutation_p.D2836N|PLEC_ENST00000356346.3_Missense_Mutation_p.D2822N|PLEC_ENST00000398774.2_Missense_Mutation_p.D2804N|PLEC_ENST00000354958.2_Missense_Mutation_p.D2814N|PLEC_ENST00000354589.3_Missense_Mutation_p.D2836N|PLEC_ENST00000527096.1_Missense_Mutation_p.D2859N|PLEC_ENST00000357649.2_Missense_Mutation_p.D2840N|PLEC_ENST00000436759.2_Missense_Mutation_p.D2863N	p.D2973N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9086	-			2973			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8917G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128415	0.37533	7.47E-4	0.002402	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	4.95	3.16	0.36331	.	0.000000	0.64402	U	0.000004	T	0.73024	0.3534	L	0.46885	1.475	0.51767	D	0.999934	B;B;B;B;B;B;B;B	0.33826	0.295;0.427;0.427;0.343;0.427;0.427;0.295;0.295	B;B;B;B;B;B;B;B	0.32393	0.089;0.089;0.089;0.145;0.089;0.089;0.089;0.089	T	0.70568	-0.4836	10	0.52906	T	0.07	.	11.4324	0.50050	0.0:0.85:0.0:0.15	.	2863;2822;2814;2973;2804;2836;2840;2836	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	2836;2840;2836;2804;2973;2814;2822;2863;2859	ENSP00000344848:D2836N;ENSP00000350277:D2840N;ENSP00000346602:D2836N;ENSP00000381756:D2804N;ENSP00000323856:D2973N;ENSP00000347044:D2814N;ENSP00000348702:D2822N;ENSP00000388180:D2863N;ENSP00000434583:D2859N	ENSP00000323856:D2973N	D	-	1	0	PLEC	145067471	0.998000	0.40836	0.995000	0.50966	0.660000	0.38997	3.898000	0.56281	0.642000	0.30620	-0.366000	0.07423	GAC		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		16	189	0	0	0	1	0	16	189				
FCRL1	115350	broad.mit.edu	37	1	157773849	157773849	+	Silent	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:157773849G>A	ENST00000368176.3	-	3	172	c.105C>T	c.(103-105)acC>acT	p.T35T	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Silent_p.T35T|FCRL1_ENST00000491942.1_Silent_p.T35T	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	35	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TACACGTCAGGGTCACTGGGC	0.527																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(103-105)acC>acT		Fc receptor-like 1							78.0	83.0	82.0					1																	157773849		2203	4300	6503	SO:0001819	synonymous_variant	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157773849G>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.105C>T	1.37:g.157773849G>A						FCRL1_ENST00000368176.3_Silent_p.T35T|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.T35T	p.T35T	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	156	-	all_hematologic(112;0.0378)		35			Ig-like C2-type 1.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	ENST00000368176.3	37	c.105C>T	CCDS1170.1																																																																																				0.527	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		9	117	0	0	0	1	0	9	117				
JAK1	3716	broad.mit.edu	37	1	65301155	65301155	+	Missense_Mutation	SNP	T	T	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:65301155T>A	ENST00000342505.4	-	24	3541	c.3293A>T	c.(3292-3294)cAg>cTg	p.Q1098L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1098	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GACTGTCATCTGGCCATGGGT	0.398			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3292-3294)cAg>cTg		Janus kinase 1							119.0	109.0	112.0					1																	65301155		1838	4089	5927	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65301155T>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3293A>T	1.37:g.65301155T>A	ENSP00000343204:p.Gln1098Leu						p.Q1098L	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	24	3541	-			1098			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.3293A>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084304	0.76642	.	.	ENSG00000162434	ENST00000342505	D	0.89270	-2.49	4.96	4.96	0.65561	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.87537	0.6202	L	0.31804	0.96	0.80722	D	1	D	0.58620	0.983	D	0.72338	0.977	D	0.86443	0.1768	9	0.27082	T	0.32	-6.1934	14.8236	0.70091	0.0:0.0:0.0:1.0	.	1098	P23458	JAK1_HUMAN	L	1098	ENSP00000343204:Q1098L	ENSP00000343204:Q1098L	Q	-	2	0	JAK1	65073743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.255000	0.78338	2.081000	0.62600	0.533000	0.62120	CAG		0.398	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		4	143	0	0	0	1	0	4	143				
UHMK1	127933	broad.mit.edu	37	1	162467790	162467790	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:162467790G>A	ENST00000489294.1	+	0	158				UHMK1_ENST00000545294.1_Intron|UHMK1_ENST00000538489.1_De_novo_Start_InFrame	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1						cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AACCCACACCGATGGCGGGAT	0.736																																						ENST00000489294.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11								U2AF homology motif (UHM) kinase 1							17.0	21.0	20.0					1																	162467790		2067	4179	6246			127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162467790G>A	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373		1.37:g.162467790G>A						UHMK1_ENST00000545294.1_Intron|UHMK1_ENST00000538489.1_De_novo_Start_InFrame		NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		0	158	+	all_hematologic(112;0.115)							A8K8K4|G3V1M1|Q96C22	Translation_Start_Site	SNP	ENST00000489294.1	37		CCDS1239.1																																																																																				0.736	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		9	74	0	0	0	1	0	9	74				
ACR	49	broad.mit.edu	37	22	51183206	51183206	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr22:51183206G>T	ENST00000216139.5	+	5	877	c.837G>T	c.(835-837)tgG>tgT	p.W279C	ACR_ENST00000527761.1_3'UTR|AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	279	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCCACCTGGCCCTATCTGA	0.597																																						ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(835-837)tgG>tgT		acrosin							14.0	16.0	15.0					22																	51183206		2194	4268	6462	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51183206G>T	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.837G>T	22.37:g.51183206G>T	ENSP00000216139:p.Trp279Cys					ACR_ENST00000527761.1_3'UTR	p.W279C	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	5	877	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	279			Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.837G>T	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302954	0.40795	.	.	ENSG00000100312	ENST00000216139	D	0.88431	-2.38	4.19	3.17	0.36434	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.382752	0.19487	N	0.113087	D	0.82875	0.5132	N	0.01874	-0.695	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.72384	-0.4310	10	0.56958	D	0.05	-14.1835	6.3667	0.21459	0.2211:0.0:0.7789:0.0	.	279	P10323	ACRO_HUMAN	C	279	ENSP00000216139:W279C	ENSP00000216139:W279C	W	+	3	0	ACR	49530072	1.000000	0.71417	0.656000	0.29637	0.943000	0.58893	3.881000	0.56152	0.980000	0.38523	0.305000	0.20034	TGG		0.597	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		5	17	1	0	0.184627	1	0.18567	5	17				
MAVS	57506	broad.mit.edu	37	20	3838456	3838456	+	Splice_Site	SNP	C	C	T	rs576661368	byFrequency	TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:3838456C>T	ENST00000428216.2	+	3	420	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Splice_Site_p.Q98*	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	98					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						CTACCAGCCTCGTGAGCGTCC	0.622													C|||	4	0.000798722	0.0	0.0	5008	,	,		15648	0.0		0.0	False		,,,				2504	0.0041					ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.e3+1		mitochondrial antiviral signaling protein							100.0	76.0	84.0					20																	3838456		2203	4300	6503	SO:0001630	splice_region_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.chr20:3838456C>T	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.292+1C>T	20.37:g.3838456C>T						MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Splice_Site_p.Q98_splice	p.R98_splice	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			3	420	+			98					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Splice_Site	SNP	ENST00000428216.2	37	c.292_splice	CCDS33437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.27|19.27	3.796208|3.796208	0.70567|0.70567	.|.	.|.	ENSG00000088888|ENSG00000088888	ENST00000358134|ENST00000428216	.|T	.|0.12569	.|2.67	4.67|4.67	0.0923|0.0923	0.14472|0.14472	.|.	.|1.356200	.|0.05107	.|N	.|0.488174	.|T	.|0.14399	.|0.0348	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D	.|0.54772	.|0.968	.|B	.|0.43783	.|0.431	.|T	.|0.24512	.|-1.0158	.|10	0.05959|0.66056	T|D	0.93|0.02	-1.135|-1.135	4.708|4.708	0.12858|0.12858	0.0:0.4148:0.3633:0.2219|0.0:0.4148:0.3633:0.2219	.|.	.|98	.|Q7Z434	.|MAVS_HUMAN	X|W	98|98	.|ENSP00000401980:R98W	ENSP00000350852:Q98X|ENSP00000401980:R98W	Q|R	+|+	1|1	0|2	MAVS|MAVS	3786456|3786456	0.000000|0.000000	0.05858|0.05858	0.747000|0.747000	0.31113|0.31113	0.700000|0.700000	0.40528|0.40528	-0.615000|-0.615000	0.05597|0.05597	-0.123000|-0.123000	0.11745|0.11745	0.609000|0.609000	0.83330|0.83330	CAA|CGG		0.622	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746	Missense_Mutation	16	93	0	0	0	1	0	16	93				
GATA6	2627	broad.mit.edu	37	18	19780633	19780633	+	Silent	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr18:19780633G>A	ENST00000269216.3	+	7	1912	c.1635G>A	c.(1633-1635)gtG>gtA	p.V545V	GATA6_ENST00000581694.1_Silent_p.V545V|RP11-627G18.1_ENST00000583442.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	545					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GTGCCCCGGTGATGACTGGTG	0.577																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(1633-1635)gtG>gtA		GATA binding protein 6							89.0	89.0	89.0					18																	19780633		2203	4300	6503	SO:0001819	synonymous_variant	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19780633G>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1635G>A	18.37:g.19780633G>A						GATA6_ENST00000581694.1_Silent_p.V545V|RP11-627G18.1_ENST00000583442.1_RNA	p.V545V	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		7	1912	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		545					B0YJ17|P78327	Silent	SNP	ENST00000269216.3	37	c.1635G>A	CCDS11872.1																																																																																				0.577	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		12	83	0	0	0	1	0	12	83				
HELZ	9931	broad.mit.edu	37	17	65144758	65144758	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:65144758C>G	ENST00000358691.5	-	20	2714	c.2548G>C	c.(2548-2550)Gag>Cag	p.E850Q	HELZ_ENST00000580168.1_Missense_Mutation_p.E851Q	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	850						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGGTAATGCTCATAGAGTCGG	0.473																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2548-2550)Gag>Cag		helicase with zinc finger							231.0	226.0	227.0					17																	65144758		1894	4113	6007	SO:0001583	missense	9931							g.chr17:65144758C>G	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2548G>C	17.37:g.65144758C>G	ENSP00000351524:p.Glu850Gln					HELZ_ENST00000580168.1_Missense_Mutation_p.E851Q	p.E850Q	NM_014877.3	NP_055692.2					20	2714	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.2548G>C	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253721	0.59212	.	.	ENSG00000198265	ENST00000358691	D	0.82344	-1.6	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	N	0.11000	0.08	0.80722	D	1	P;B	0.35527	0.507;0.241	B;B	0.39660	0.306;0.18	T	0.73126	-0.4081	10	0.32370	T	0.25	-19.9081	20.0585	0.97663	0.0:1.0:0.0:0.0	.	851;850	B7ZLW2;P42694	.;HELZ_HUMAN	Q	850	ENSP00000351524:E850Q	ENSP00000351524:E850Q	E	-	1	0	HELZ	62575220	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.046000	0.76592	2.812000	0.96745	0.557000	0.71058	GAG		0.473	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		45	269	0	0	0	1	0	45	269				
CYP7A1	1581	broad.mit.edu	37	8	59404982	59404982	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:59404982C>T	ENST00000301645.3	-	5	1282	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	382					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R382Q(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTCATCTTTTCGGATGTTGTA	0.453									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			1	Substitution - Missense(1)	p.R382Q(1)	large_intestine(1)	breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(1144-1146)cGa>cAa		cytochrome P450, family 7, subfamily A, polypeptide 1							173.0	151.0	159.0					8																	59404982		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59404982C>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1145G>A	8.37:g.59404982C>T	ENSP00000301645:p.Arg382Gln						p.R382Q	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			5	1282	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	382					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.1145G>A	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	C	36	5.889888	0.97068	.	.	ENSG00000167910	ENST00000301645	T	0.12879	2.64	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42632	-0.9440	10	0.54805	T	0.06	-16.1881	20.6634	0.99662	0.0:1.0:0.0:0.0	.	382	P22680	CP7A1_HUMAN	Q	382	ENSP00000301645:R382Q	ENSP00000301645:R382Q	R	-	2	0	CYP7A1	59567536	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	CGA		0.453	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		10	116	0	0	0	1	0	10	116				
CNOT2	4848	broad.mit.edu	37	12	70747681	70747681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr12:70747681C>T	ENST00000418359.3	+	17	2060	c.1609C>T	c.(1609-1611)Cag>Tag	p.Q537*	CNOT2_ENST00000551483.1_Nonsense_Mutation_p.Q188*|CNOT2_ENST00000229195.3_Nonsense_Mutation_p.Q537*	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	537	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CAACCCTGCTCAGCAAGCCTT	0.368																																						ENST00000551483.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(562-564)Cag>Tag		CCR4-NOT transcription complex, subunit 2							61.0	66.0	64.0					12																	70747681		2203	4300	6503	SO:0001587	stop_gained	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70747681C>T	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.1609C>T	12.37:g.70747681C>T	ENSP00000412091:p.Gln537*					CNOT2_ENST00000229195.3_Nonsense_Mutation_p.Q537*|CNOT2_ENST00000418359.3_Nonsense_Mutation_p.Q537*	p.Q188*			Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		7	4717	+	Renal(347;0.236)		537					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Nonsense_Mutation	SNP	ENST00000418359.3	37	c.562C>T	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	C	43	9.923656	0.99297	.	.	ENSG00000111596	ENST00000229195;ENST00000418359;ENST00000548159;ENST00000551043;ENST00000551483	.	.	.	5.84	5.84	0.93424	.	0.100050	0.64402	D	0.000001	.	.	.	.	.	.	0.44643	D	0.997623	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	0.5961	20.1551	0.98106	0.0:1.0:0.0:0.0	.	.	.	.	X	537;537;528;537;188	.	ENSP00000229195:Q537X	Q	+	1	0	CNOT2	69033948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.796000	0.85898	2.760000	0.94817	0.655000	0.94253	CAG		0.368	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			8	65	0	0	0	1	0	8	65				
OR51F1	256892	broad.mit.edu	37	11	4790428	4790428	+	Silent	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:4790428G>A	ENST00000380383.1	-	1	740	c.741C>T	c.(739-741)ttC>ttT	p.F247F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.F240F			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACAGGTGCTGAAGACCTTGT	0.488																																						ENST00000380383.1																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(739-741)ttC>ttT		olfactory receptor, family 51, subfamily F, member 1							108.0	98.0	101.0					11																	4790428		2201	4298	6499	SO:0001819	synonymous_variant	256892					integral to membrane	olfactory receptor activity	g.chr11:4790428G>A	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.741C>T	11.37:g.4790428G>A						MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Silent_p.F240F|MMP26_ENST00000380390.1_Intron	p.F247F			A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	740	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	240						Silent	SNP	ENST00000380383.1	37	c.741C>T																																																																																					0.488	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		10	84	0	0	0	1	0	10	84				
DISP2	85455	broad.mit.edu	37	15	40657441	40657441	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr15:40657441C>A	ENST00000267889.3	+	6	900	c.813C>A	c.(811-813)gaC>gaA	p.D271E		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	271					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCCTGGAGGACAGAAGGCAAG	0.607																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(811-813)gaC>gaA		dispatched homolog 2 (Drosophila)							39.0	45.0	43.0					15																	40657441		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40657441C>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.813C>A	15.37:g.40657441C>A	ENSP00000267889:p.Asp271Glu						p.D271E	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	6	900	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	271					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.813C>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685031	0.29872	.	.	ENSG00000140323	ENST00000267889	T	0.12255	2.7	4.33	2.3	0.28687	.	0.291838	0.36519	N	0.002558	T	0.09379	0.0231	L	0.28458	0.855	0.31335	N	0.684334	B	0.10296	0.003	B	0.13407	0.009	T	0.13522	-1.0506	10	0.27785	T	0.31	-7.2843	9.0849	0.36574	0.3988:0.6012:0.0:0.0	.	271	A7MBM2	DISP2_HUMAN	E	271	ENSP00000267889:D271E	ENSP00000267889:D271E	D	+	3	2	DISP2	38444733	1.000000	0.71417	0.125000	0.21846	0.807000	0.45602	0.730000	0.26043	0.493000	0.27837	0.563000	0.77884	GAC		0.607	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		10	86	1	0	1.76689e-08	1	1.91773e-08	10	86				
KANK2	25959	broad.mit.edu	37	19	11304609	11304609	+	Silent	SNP	G	G	A	rs142504157		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:11304609G>A	ENST00000586659.1	-	4	461	c.147C>T	c.(145-147)taC>taT	p.Y49Y	KANK2_ENST00000589894.1_Silent_p.Y49Y|KANK2_ENST00000589359.1_Silent_p.Y49Y|KANK2_ENST00000355150.5_Silent_p.Y49Y|KANK2_ENST00000432929.2_Silent_p.Y49Y			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	49	Interaction with AIFM1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGTCATCCACGTACTTGAGGA	0.687																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(145-147)taC>taT		KN motif and ankyrin repeat domains 2		G	,	1,4405	2.1+/-5.4	0,1,2202	47.0	51.0	50.0		147,147	0.4	1.0	19	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KANK2	NM_001136191.2,NM_015493.6	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	49/852,49/860	11304609	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25959							g.chr19:11304609G>A	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.147C>T	19.37:g.11304609G>A						KANK2_ENST00000589894.1_Silent_p.Y49Y|KANK2_ENST00000589359.1_Silent_p.Y49Y|KANK2_ENST00000586659.1_Silent_p.Y49Y|KANK2_ENST00000355150.5_Silent_p.Y49Y	p.Y49Y	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	507	-			49					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.147C>T	CCDS12255.1																																																																																				0.687	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		24	99	0	0	0	1	0	24	99				
TM4SF5	9032	broad.mit.edu	37	17	4686422	4686422	+	Silent	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:4686422G>A	ENST00000270560.3	+	5	624	c.593G>A	c.(592-594)tGa>tAa	p.*198*		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	0						integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(3)|ovary(1)	6						ACACCTCACTGAGGCTCCACT	0.537																																						ENST00000270560.3																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(592-594)tGa>tAa		transmembrane 4 L six family member 5							146.0	115.0	126.0					17																	4686422		2203	4300	6503	SO:0001819	synonymous_variant	9032					integral to plasma membrane		g.chr17:4686422G>A	AF027204	CCDS11054.1	17p13.3	2007-01-06	2005-03-21		ENSG00000142484	ENSG00000142484			11857	protein-coding gene	gene with protein product		604657	"""transmembrane 4 superfamily member 5"""			9479038	Standard	NM_003963		Approved		uc002fyw.1	O14894	OTTHUMG00000090776	ENST00000270560.3:c.593G>A	17.37:g.4686422G>A							p.*198*	NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN			5	624	+			0					Q17RW9|Q6IB79	Silent	SNP	ENST00000270560.3	37	c.593G>A	CCDS11054.1																																																																																				0.537	TM4SF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207558.2			12	85	0	0	0	1	0	12	85				
ADCY3	109	broad.mit.edu	37	2	25042882	25042882	+	Silent	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:25042882G>A	ENST00000260600.5	-	21	4205	c.3354C>T	c.(3352-3354)ttC>ttT	p.F1118F	ADCY3_ENST00000405392.1_Silent_p.F705F|CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1118					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCCCCTTCAAGAAGAAGGTCA	0.587																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(3352-3354)ttC>ttT		adenylate cyclase 3							59.0	50.0	53.0					2																	25042882		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25042882G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3354C>T	2.37:g.25042882G>A						ADCY3_ENST00000405392.1_Silent_p.F705F|CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR	p.F1118F	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			21	4205	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		1118					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.3354C>T	CCDS1715.1																																																																																				0.587	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			6	22	0	0	0	1	0	6	22				
GOLGA2	2801	broad.mit.edu	37	9	131022986	131022986	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr9:131022986G>C	ENST00000421699.2	-	17	1447	c.1435C>G	c.(1435-1437)Ctg>Gtg	p.L479V	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.L467V	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	479					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TGTCCTGCCAGACCCTCCAGC	0.677																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1435-1437)Ctg>Gtg		golgin A2							26.0	29.0	28.0					9																	131022986		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131022986G>C	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1435C>G	9.37:g.131022986G>C	ENSP00000416097:p.Leu479Val						p.L479V	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			17	1447	-			479					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.1435C>G	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	g	17.42	3.384435	0.61845	.	.	ENSG00000167110	ENST00000421699	T	0.38240	1.15	5.3	3.36	0.38483	.	0.322570	0.29348	N	0.012418	T	0.34366	0.0895	L	0.43598	1.365	0.32459	N	0.544339	P	0.45957	0.869	P	0.47645	0.553	T	0.38436	-0.9661	10	0.35671	T	0.21	.	9.7701	0.40585	0.0736:0.0:0.7857:0.1407	.	479	Q08379	GOGA2_HUMAN	V	479	ENSP00000416097:L479V	ENSP00000416097:L479V	L	-	1	2	GOLGA2	130062807	0.992000	0.36948	0.043000	0.18650	0.911000	0.54048	2.541000	0.45735	2.482000	0.83794	0.305000	0.20034	CTG		0.677	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		9	67	0	0	0	1	0	9	67				
POLR3E	55718	broad.mit.edu	37	16	22320358	22320358	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr16:22320358C>T	ENST00000299853.5	+	5	445	c.278C>T	c.(277-279)tCc>tTc	p.S93F	POLR3E_ENST00000418581.2_Missense_Mutation_p.S57F|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000359210.4_Missense_Mutation_p.S93F|POLR3E_ENST00000564209.1_Missense_Mutation_p.S93F	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	93					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.S93F(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AGCACGTATTCCTCGTGAGTT	0.597																																						ENST00000299853.5																			1	Substitution - Missense(1)	p.S93F(1)	skin(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(277-279)tCc>tTc		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							92.0	70.0	78.0					16																	22320358		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22320358C>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.278C>T	16.37:g.22320358C>T	ENSP00000299853:p.Ser93Phe					POLR3E_ENST00000418581.2_Missense_Mutation_p.S57F|POLR3E_ENST00000564209.1_Missense_Mutation_p.S93F|POLR3E_ENST00000359210.4_Missense_Mutation_p.S93F|POLR3E_ENST00000564256.1_3'UTR	p.S93F	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	5	445	+			93					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.278C>T	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838286	0.91117	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.47177	0.85;0.85;0.85	5.68	5.68	0.88126	.	0.052658	0.85682	D	0.000000	T	0.63236	0.2494	L	0.57536	1.79	0.80722	D	1	D;P;D;D;P;D	0.58970	0.978;0.908;0.984;0.957;0.908;0.981	P;P;P;P;P;P	0.58577	0.839;0.839;0.839;0.571;0.839;0.841	T	0.64943	-0.6288	10	0.87932	D	0	-21.7168	18.5571	0.91089	0.0:1.0:0.0:0.0	.	37;57;93;93;93;93	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	F	93;93;57	ENSP00000299853:S93F;ENSP00000352140:S93F;ENSP00000399254:S57F	ENSP00000299853:S93F	S	+	2	0	POLR3E	22227859	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.374000	0.66167	2.684000	0.91462	0.555000	0.69702	TCC		0.597	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		9	55	0	0	0	1	0	9	55				
TNNT2	7139	broad.mit.edu	37	1	201333455	201333455	+	Missense_Mutation	SNP	G	G	A	rs483352832		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:201333455G>A	ENST00000509001.1	-	10	716	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	TNNT2_ENST00000367318.5_Missense_Mutation_p.R144W|TNNT2_ENST00000360372.4_Missense_Mutation_p.R139W|TNNT2_ENST00000421663.2_Missense_Mutation_p.R146W|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000367320.2_Missense_Mutation_p.R114W|TNNT2_ENST00000236918.7_Missense_Mutation_p.R149W|TNNT2_ENST00000367317.4_Missense_Mutation_p.R144W|TNNT2_ENST00000367322.1_Missense_Mutation_p.R144W|TNNT2_ENST00000367315.2_Missense_Mutation_p.R144W|TNNT2_ENST00000458432.2_Missense_Mutation_p.R156W	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	154					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCCTTCTCCCGCTCATTCCGG	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16331	0.0		0.0	False		,,,				2504	0.001					ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.(430-432)Cgg>Tgg		troponin T type 2 (cardiac)							48.0	42.0	44.0					1																	201333455		2203	4300	6503	SO:0001583	missense	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201333455G>A	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.430C>T	1.37:g.201333455G>A	ENSP00000422031:p.Arg144Trp					TNNT2_ENST00000367315.2_Missense_Mutation_p.R144W|TNNT2_ENST00000421663.2_Missense_Mutation_p.R146W|TNNT2_ENST00000458432.2_Missense_Mutation_p.R156W|TNNT2_ENST00000360372.4_Missense_Mutation_p.R139W|TNNT2_ENST00000236918.7_Missense_Mutation_p.R149W|TNNT2_ENST00000367320.2_Missense_Mutation_p.R114W|TNNT2_ENST00000367318.5_Missense_Mutation_p.R144W|TNNT2_ENST00000367317.4_Missense_Mutation_p.R144W|TNNT2_ENST00000367322.1_Missense_Mutation_p.R144W	p.R144W	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			10	716	-			154					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	ENST00000509001.1	37	c.430C>T	CCDS30969.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543394	0.65198	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367319;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702	D;D;D;D;D;D;D;D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	4.28	3.32	0.38043	.	0.057709	0.64402	D	0.000005	D	0.95784	0.8628	M	0.86651	2.83	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.994;0.997;0.998;0.997;0.994	D	0.95152	0.8273	10	0.87932	D	0	-15.5786	10.044	0.42175	0.0:0.0:0.5017:0.4983	.	139;156;153;154;144;154	E7EPW4;F8WAF6;P45379-3;P45379;Q9BUF6;P45379-10	.;.;.;TNNT2_HUMAN;.;.	W	144;144;156;146;149;144;144;139;140;85;114;144;139;154	ENSP00000356291:R144W;ENSP00000356287:R144W;ENSP00000387874:R156W;ENSP00000404134:R146W;ENSP00000236918:R149W;ENSP00000356286:R144W;ENSP00000356284:R144W;ENSP00000353535:R139W;ENSP00000356289:R114W;ENSP00000422031:R144W;ENSP00000414036:R139W;ENSP00000402238:R154W	ENSP00000236918:R149W	R	-	1	2	TNNT2	199600078	0.403000	0.25319	0.783000	0.31826	0.855000	0.48748	0.726000	0.25984	0.726000	0.32339	0.491000	0.48974	CGG		0.667	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		5	29	0	0	0	1	0	5	29				
CLDN16	10686	broad.mit.edu	37	3	190106095	190106095	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:190106095C>T	ENST00000264734.2	+	1	435	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.H63Y	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	63					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CCCATGTTGCCATCCTGATGG	0.498																																						ENST00000264734.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19						c.(187-189)Cat>Tat		claudin 16							200.0	172.0	181.0					3																	190106095		2203	4300	6503	SO:0001583	missense	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190106095C>T	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.187C>T	3.37:g.190106095C>T	ENSP00000264734:p.His63Tyr					CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.H63Y	p.H63Y	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	1	435	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		63						Missense_Mutation	SNP	ENST00000264734.2	37	c.187C>T	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	C	3.584	-0.085084	0.07097	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.92099	-2.62;-2.97	5.91	3.19	0.36642	.	1.603350	0.03617	N	0.235761	D	0.85504	0.5712	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.71679	-0.4520	10	0.33141	T	0.24	-14.9407	7.9557	0.30040	0.0:0.7493:0.0:0.2507	.	63;63	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	Y	63	ENSP00000264734:H63Y;ENSP00000414136:H63Y	ENSP00000264734:H63Y	H	+	1	0	CLDN16	191588789	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.126000	0.15769	0.424000	0.26061	0.460000	0.39030	CAT		0.498	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		31	138	0	0	0	1	0	31	138				
JPH3	57338	broad.mit.edu	37	16	87678215	87678215	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr16:87678215G>A	ENST00000284262.2	+	2	976	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	245					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGCTCCTTTCGCAGCGAGGCG	0.662																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(733-735)cGc>cAc		junctophilin 3							63.0	61.0	62.0					16																	87678215		2198	4300	6498	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678215G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.734G>A	16.37:g.87678215G>A	ENSP00000284262:p.Arg245His						p.R245H	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	976	+			245					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.734G>A	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871486	0.91587	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.53423	0.62	5.15	5.15	0.70609	.	0.143817	0.56097	D	0.000023	T	0.45256	0.1333	L	0.43923	1.385	0.80722	D	1	B	0.32939	0.391	B	0.34180	0.177	T	0.48547	-0.9026	10	0.62326	D	0.03	.	17.6314	0.88109	0.0:0.0:1.0:0.0	.	245	Q8WXH2	JPH3_HUMAN	H	108;245	ENSP00000284262:R245H	ENSP00000284262:R245H	R	+	2	0	JPH3	86235716	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.512000	0.73737	2.403000	0.81681	0.561000	0.74099	CGC		0.662	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			11	95	0	0	0	1	0	11	95				
SIGLEC12	89858	broad.mit.edu	37	19	52000215	52000215	+	Silent	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:52000215C>T	ENST00000291707.3	-	7	1573	c.1518G>A	c.(1516-1518)agG>agA	p.R506R	SIGLEC12_ENST00000598614.1_Silent_p.R388R	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	506					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCGATTTCTTCCTGCAGGACC	0.572																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(1516-1518)agG>agA		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							138.0	111.0	120.0					19																	52000215		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52000215C>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1518G>A	19.37:g.52000215C>T						SIGLEC12_ENST00000598614.1_Silent_p.R388R	p.R506R	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	7	1573	-		all_neural(266;0.0199)	506					Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.1518G>A	CCDS12833.1																																																																																				0.572	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		16	103	0	0	0	1	0	16	103				
ARHGEF28	64283	broad.mit.edu	37	5	73136479	73136479	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:73136479G>T	ENST00000426542.2	+	10	1341	c.1321G>T	c.(1321-1323)Gcc>Tcc	p.A441S	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.A441S|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A441S|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A441S|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.A128S|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A441S|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.A441S			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	441					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										ACACACTGAAGCCCAGCAGTC	0.463																																						ENST00000545377.1																			0											c.(1321-1323)Gcc>Tcc		Rho guanine nucleotide exchange factor (GEF) 28							84.0	81.0	82.0					5																	73136479		2007	4155	6162	SO:0001583	missense	64283							g.chr5:73136479G>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1321G>T	5.37:g.73136479G>T	ENSP00000412175:p.Ala441Ser					ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A441S|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.A441S|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.A128S|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A441S|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A441S|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.A441S	p.A441S	NM_001080479.2	NP_001073948.2					11	1497	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.1321G>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774824	0.31411	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.09538	3.22;3.22;3.22;2.97;3.22;3.22;3.06	6.07	4.28	0.50868	.	.	.	.	.	T	0.10551	0.0258	L	0.51422	1.61	0.09310	N	1	B;B;B;P;B	0.42871	0.255;0.255;0.255;0.792;0.372	B;B;B;B;B	0.37601	0.038;0.057;0.057;0.254;0.121	T	0.17077	-1.0381	9	0.30854	T	0.27	.	9.424	0.38567	0.163:0.0:0.837:0.0	.	128;441;441;441;441	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	S	441;441;441;441;441;441;128	ENSP00000296794:A441S;ENSP00000441913:A441S;ENSP00000441436:A441S;ENSP00000287898:A441S;ENSP00000411459:A441S;ENSP00000412175:A441S;ENSP00000296799:A128S	ENSP00000287898:A441S	A	+	1	0	RP11-428C6.1	73172235	0.188000	0.23250	0.060000	0.19600	0.004000	0.04260	1.469000	0.35343	0.889000	0.36185	0.655000	0.94253	GCC		0.463	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			11	36	1	0	6.40141e-05	1	6.70265e-05	11	36				
FLG	2312	broad.mit.edu	37	1	152280354	152280354	+	Silent	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:152280354C>T	ENST00000368799.1	-	3	7043	c.7008G>A	c.(7006-7008)caG>caA	p.Q2336Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2336	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGCTGACTGCTGGTGGT	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7006-7008)caG>caA		filaggrin							214.0	295.0	268.0					1																	152280354		2197	4298	6495	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280354C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7008G>A	1.37:g.152280354C>T						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.Q2336Q	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7043	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2336			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.7008G>A	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		19	631	0	0	0	1	0	19	631				
PLXNB3	5365	broad.mit.edu	37	X	153036810	153036810	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chrX:153036810G>A	ENST00000361971.5	+	13	2413	c.2299G>A	c.(2299-2301)Gtc>Atc	p.V767I	PLXNB3_ENST00000538282.1_Missense_Mutation_p.V377I|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V420I|PLXNB3_ENST00000538966.1_Missense_Mutation_p.V790I	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	767					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCATCTACGTCACCCAGGG	0.637													G|||	1	0.000264901	0.0	0.0	3775	,	,		13353	0.001		0.0	False		,,,				2504	0.0					ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(2368-2370)Gtc>Atc		plexin B3							104.0	85.0	91.0					X																	153036810		2199	4299	6498	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153036810G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2299G>A	X.37:g.153036810G>A	ENSP00000355378:p.Val767Ile					PLXNB3_ENST00000361971.5_Missense_Mutation_p.V767I|PLXNB3_ENST00000538282.1_Missense_Mutation_p.V377I|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V420I|PLXNB3_ENST00000538543.1_Intron	p.V790I	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			14	2639	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		767					B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.2368G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633605	0.29068	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.71579	5.01;4.98;4.4;-0.58	5.11	4.25	0.50352	.	0.335991	0.28252	N	0.016032	T	0.57504	0.2058	L	0.58428	1.81	0.30083	N	0.808998	B;P;P;B	0.41929	0.373;0.765;0.72;0.373	B;B;B;B	0.29524	0.048;0.05;0.103;0.07	T	0.60910	-0.7169	10	0.44086	T	0.13	.	7.3271	0.26561	0.2037:0.0:0.7963:0.0	.	420;449;790;767	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	I	790;767;420;377	ENSP00000442736:V790I;ENSP00000355378:V767I;ENSP00000445569:V420I;ENSP00000441919:V377I	ENSP00000355378:V767I	V	+	1	0	PLXNB3	152690004	0.149000	0.22717	0.740000	0.30986	0.275000	0.26752	2.241000	0.43097	0.939000	0.37446	0.529000	0.55759	GTC		0.637	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			36	22	0	0	0	1	0	36	22				
SLC38A1	81539	broad.mit.edu	37	12	46591532	46591532	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr12:46591532C>T	ENST00000398637.5	-	16	2027	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	SLC38A1_ENST00000549049.1_Missense_Mutation_p.D445N|SLC38A1_ENST00000549633.1_5'Flank|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D445N|SLC38A1_ENST00000552197.1_Missense_Mutation_p.D445N|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D445N	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	445					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTATCTCCATCCTGGTCTGTG	0.318																																						ENST00000398637.5																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(1333-1335)Gat>Aat		solute carrier family 38, member 1							145.0	149.0	148.0					12																	46591532		1806	4082	5888	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46591532C>T	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1333G>A	12.37:g.46591532C>T	ENSP00000381634:p.Asp445Asn					SLC38A1_ENST00000439706.1_Missense_Mutation_p.D445N|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D445N|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D445N|SLC38A1_ENST00000552197.1_Missense_Mutation_p.D445N	p.D445N	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		16	2027	-	Lung SC(27;0.137)|Renal(347;0.236)		445					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.1333G>A	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004387	0.74932	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02472	4.28;4.28;4.28;4.28;4.28	5.95	5.06	0.68205	.	.	.	.	.	T	0.04543	0.0124	L	0.52905	1.665	0.42926	D	0.994308	B;B	0.29805	0.257;0.202	B;B	0.30943	0.053;0.122	T	0.47328	-0.9126	9	0.28530	T	0.3	-0.4846	13.7718	0.63029	0.0:0.9284:0.0:0.0716	.	445;445	F8VX04;Q9H2H9	.;S38A1_HUMAN	N	445	ENSP00000449607:D445N;ENSP00000398142:D445N;ENSP00000381634:D445N;ENSP00000447853:D445N;ENSP00000449756:D445N	ENSP00000381634:D445N	D	-	1	0	SLC38A1	44877799	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.190000	0.58365	2.827000	0.97445	0.650000	0.86243	GAT		0.318	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			7	84	0	0	0	1	0	7	84				
BRD9	65980	broad.mit.edu	37	5	878554	878554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:878554G>T	ENST00000467963.1	-	11	1353	c.1187C>A	c.(1186-1188)tCa>tAa	p.S396*	BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000483173.1_Nonsense_Mutation_p.S343*|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000323510.4_Nonsense_Mutation_p.S300*|BRD9_ENST00000388890.4_Nonsense_Mutation_p.S280*	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	396					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCCAAATACTGAATTATTCTG	0.557																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(898-900)tCa>tAa		bromodomain containing 9							120.0	102.0	108.0					5																	878554		2203	4300	6503	SO:0001587	stop_gained	65980						nucleic acid binding	g.chr5:878554G>T	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1187C>A	5.37:g.878554G>T	ENSP00000419765:p.Ser396*					BRD9_ENST00000467963.1_Nonsense_Mutation_p.S396*|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000483173.1_Nonsense_Mutation_p.S343*|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000388890.4_Nonsense_Mutation_p.S280*	p.S300*			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		8	898	-			396					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Nonsense_Mutation	SNP	ENST00000467963.1	37	c.899C>A	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	g	38	6.987357	0.97983	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000323547;ENST00000483173;ENST00000467963	.	.	.	5.42	4.53	0.55603	.	0.108387	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6152	0.76760	0.0:0.1383:0.8617:0.0	.	.	.	.	X	300;280;74;343;396	.	ENSP00000323557:S300X	S	-	2	0	BRD9	931554	1.000000	0.71417	0.006000	0.13384	0.402000	0.30811	6.203000	0.72137	1.243000	0.43853	0.655000	0.94253	TCA		0.557	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		4	131	1	0	0.000602214	1	0.000619619	4	131				
MOSPD2	158747	broad.mit.edu	37	X	14927078	14927078	+	Missense_Mutation	SNP	A	A	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chrX:14927078A>G	ENST00000380492.3	+	8	762	c.674A>G	c.(673-675)gAa>gGa	p.E225G	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.E225G	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	225	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					GTCAGTGTAGAATACCTGCCT	0.408																																						ENST00000380492.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(673-675)gAa>gGa		motile sperm domain containing 2							133.0	122.0	126.0					X																	14927078		2203	4300	6503	SO:0001583	missense	158747					integral to membrane	structural molecule activity	g.chrX:14927078A>G	AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.674A>G	X.37:g.14927078A>G	ENSP00000369860:p.Glu225Gly					MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.E225G	p.E225G	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN			8	762	+	Hepatocellular(33;0.183)		225			CRAL-TRIO.		Q8N3H2|Q8NA83	Missense_Mutation	SNP	ENST00000380492.3	37	c.674A>G	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210616	0.79240	.	.	ENSG00000130150	ENST00000380492	T	0.64085	-0.08	4.67	4.67	0.58626	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79167	-0.1915	10	0.59425	D	0.04	5.6936	13.2053	0.59793	1.0:0.0:0.0:0.0	.	225	Q8NHP6	MSPD2_HUMAN	G	225	ENSP00000369860:E225G	ENSP00000369860:E225G	E	+	2	0	MOSPD2	14836999	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.175000	0.89684	1.638000	0.50547	0.481000	0.45027	GAA		0.408	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	NM_152581		47	48	0	0	0	1	0	47	48				
RBM23	55147	broad.mit.edu	37	14	23374207	23374207	+	Silent	SNP	T	T	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr14:23374207T>A	ENST00000359890.3	-	9	936	c.741A>T	c.(739-741)cgA>cgT	p.R247R	RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000346528.5_Silent_p.R213R|RBM23_ENST00000399922.2_Silent_p.R231R|RBM23_ENST00000542016.2_Silent_p.R77R	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	247					mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TGGCTGCCAGTCGGTTTTTCT	0.522																																						ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.(739-741)cgA>cgT		RNA binding motif protein 23							124.0	130.0	128.0					14																	23374207		1950	4138	6088	SO:0001819	synonymous_variant	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23374207T>A	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.741A>T	14.37:g.23374207T>A						RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000346528.5_Silent_p.R213R|RBM23_ENST00000542016.2_Silent_p.R77R|RBM23_ENST00000399922.2_Silent_p.R231R	p.R247R	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	9	936	-	all_cancers(95;4.69e-05)		247					D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Silent	SNP	ENST00000359890.3	37	c.741A>T	CCDS41921.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.324114	0.24080	.	.	ENSG00000100461	ENST00000553884	.	.	.	5.8	-0.988	0.10245	.	.	.	.	.	T	0.53690	0.1812	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46775	-0.9167	4	.	.	.	-2.7338	7.9889	0.30229	0.0:0.2367:0.5162:0.2471	.	.	.	.	S	22	.	.	T	-	1	0	RBM23	22444047	0.388000	0.25197	0.988000	0.46212	0.991000	0.79684	-0.089000	0.11180	-0.116000	0.11893	0.533000	0.62120	ACT		0.522	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			27	164	0	0	0	1	0	27	164				
TAOK2	9344	broad.mit.edu	37	16	29998048	29998048	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr16:29998048G>A	ENST00000308893.4	+	16	3498	c.2455G>A	c.(2455-2457)Gaa>Aaa	p.E819K	TAOK2_ENST00000416441.2_Missense_Mutation_p.E646K|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	819	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GATTCTGGGGGAAGAATCAGG	0.552																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2455-2457)Gaa>Aaa		TAO kinase 2							88.0	101.0	97.0					16																	29998048		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998048G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2455G>A	16.37:g.29998048G>A	ENSP00000310094:p.Glu819Lys					TAOK2_ENST00000416441.2_Missense_Mutation_p.E646K|TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000279394.3_Intron	p.E819K	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	3498	+			819			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.2455G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990614	0.54041	.	.	ENSG00000149930	ENST00000308893	T	0.74106	-0.81	5.32	4.37	0.52481	.	0.600256	0.17952	N	0.156465	T	0.54967	0.1891	N	0.14661	0.345	0.26943	N	0.966203	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.39761	-0.9598	9	.	.	.	.	9.7459	0.40446	0.0956:0.0:0.9044:0.0	.	1010;646;819	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	K	819	ENSP00000310094:E819K	.	E	+	1	0	TAOK2	29905549	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	3.127000	0.50484	1.258000	0.44101	0.563000	0.77884	GAA		0.552	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		12	113	0	0	0	1	0	12	113				
SRCAP	10847	broad.mit.edu	37	16	30750224	30750224	+	Missense_Mutation	SNP	T	T	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr16:30750224T>C	ENST00000262518.4	+	34	9248	c.8863T>C	c.(8863-8865)Tcc>Ccc	p.S2955P	SRCAP_ENST00000344771.4_Missense_Mutation_p.S2797P|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.S2893P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2955	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGGACCATTTCCTCTGCAGG	0.587																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(8863-8865)Tcc>Ccc		Snf2-related CREBBP activator protein							113.0	103.0	107.0					16																	30750224		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750224T>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8863T>C	16.37:g.30750224T>C	ENSP00000262518:p.Ser2955Pro					SRCAP_ENST00000395059.2_Missense_Mutation_p.S2893P|SRCAP_ENST00000344771.4_Missense_Mutation_p.S2797P	p.S2955P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9248	+			2955			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.8863T>C	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	T	8.464	0.855898	0.17106	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91237	-2.77;-2.81;-2.8	5.24	2.95	0.34219	.	0.578909	0.15717	N	0.248114	T	0.77519	0.4142	N	0.08118	0	0.21740	N	0.999564	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.63488	-0.6626	10	0.23302	T	0.38	-5.1186	7.2927	0.26374	0.0:0.1963:0.0:0.8037	.	2893;2955	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	P	2955;2893;2797	ENSP00000262518:S2955P;ENSP00000378499:S2893P;ENSP00000343042:S2797P	ENSP00000262518:S2955P	S	+	1	0	SRCAP	30657725	0.142000	0.22610	0.990000	0.47175	0.994000	0.84299	2.333000	0.43912	1.030000	0.39839	0.533000	0.62120	TCC		0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		7	100	0	0	0	1	0	7	100				
DOCK7	85440	broad.mit.edu	37	1	62939740	62939740	+	Missense_Mutation	SNP	T	T	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:62939740T>C	ENST00000340370.5	-	47	6049	c.6032A>G	c.(6031-6033)cAg>cGg	p.Q2011R	DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000251157.5_Missense_Mutation_p.Q2031R	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2042	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAGAAAAACCTGGGCAACTTC	0.343																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(6091-6093)cAg>cGg		dedicator of cytokinesis 7							42.0	48.0	46.0					1																	62939740		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62939740T>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.6032A>G	1.37:g.62939740T>C	ENSP00000340742:p.Gln2011Arg					DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000340370.5_Missense_Mutation_p.Q2011R	p.Q2031R	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			47	6125	-			2042			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.6092A>G	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956857	0.73902	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	T;T	0.17054	2.3;2.3	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	N	0.12887	0.27	0.80722	D	1	B;B;B;B;P;B	0.47191	0.29;0.01;0.246;0.246;0.891;0.115	B;B;B;B;P;B	0.54759	0.375;0.016;0.359;0.286;0.76;0.326	T	0.07868	-1.0750	10	0.41790	T	0.15	.	15.8208	0.78644	0.0:0.0:0.0:1.0	.	2042;2031;2011;2000;2002;2033	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	DOCK7_HUMAN;.;.;.;.;.	R	2042;2031;2011;772	ENSP00000251157:Q2031R;ENSP00000340742:Q2011R	ENSP00000251157:Q2031R	Q	-	2	0	DOCK7	62712328	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.966000	0.87956	2.142000	0.66516	0.528000	0.53228	CAG		0.343	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		10	66	0	0	0	1	0	10	66				
MROH2B	133558	broad.mit.edu	37	5	41004595	41004595	+	Silent	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:41004595G>A	ENST00000399564.4	-	37	4497	c.4047C>T	c.(4045-4047)atC>atT	p.I1349I	MROH2B_ENST00000506092.2_Silent_p.I904I	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1349																	GGCCTCTGATGATAGATTCTA	0.423																																						ENST00000399564.4																			0											c.(4045-4047)atC>atT		maestro heat-like repeat family member 2B							98.0	89.0	92.0					5																	41004595		1847	4105	5952	SO:0001819	synonymous_variant	133558							g.chr5:41004595G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4047C>T	5.37:g.41004595G>A						MROH2B_ENST00000506092.2_Silent_p.I904I	p.I1349I	NM_173489.4	NP_775760.3					37	4497	-								Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.4047C>T	CCDS47202.1																																																																																				0.423	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		8	85	0	0	0	1	0	8	85				
BUB1	699	broad.mit.edu	37	2	111398996	111398996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:111398996G>A	ENST00000302759.6	-	22	2789	c.2671C>T	c.(2671-2673)Caa>Taa	p.Q891*	BUB1_ENST00000409311.1_Intron|BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000535254.1_Nonsense_Mutation_p.Q871*	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	891	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ACAAGACCTTGAGGCATCACT	0.353																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(2611-2613)Caa>Taa		BUB1 mitotic checkpoint serine/threonine kinase							113.0	114.0	113.0					2																	111398996		2203	4300	6503	SO:0001587	stop_gained	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111398996G>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2671C>T	2.37:g.111398996G>A	ENSP00000302530:p.Gln891*					BUB1_ENST00000302759.6_Nonsense_Mutation_p.Q891*|BUB1_ENST00000409311.1_Intron|BUB1_ENST00000478175.1_5'UTR	p.Q871*	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	21	2678	-		Ovarian(717;0.0822)	891			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Nonsense_Mutation	SNP	ENST00000302759.6	37	c.2611C>T	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	40	8.271547	0.98737	.	.	ENSG00000169679	ENST00000535254;ENST00000302759	.	.	.	5.86	5.86	0.93980	.	0.232813	0.45867	D	0.000330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-11.2126	14.7063	0.69194	0.0:0.1447:0.8552:0.0	.	.	.	.	X	871;891	.	ENSP00000302530:Q891X	Q	-	1	0	BUB1	111115468	1.000000	0.71417	0.712000	0.30502	0.978000	0.69477	7.763000	0.85283	2.937000	0.99478	0.650000	0.86243	CAA		0.353	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		10	127	0	0	0	1	0	10	127				
MMP2	4313	broad.mit.edu	37	16	55522555	55522555	+	Silent	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr16:55522555G>A	ENST00000219070.4	+	6	1442	c.933G>A	c.(931-933)acG>acA	p.T311T	MMP2_ENST00000543485.1_Silent_p.T235T|MMP2_ENST00000437642.2_Silent_p.T261T|MMP2_ENST00000570308.1_Silent_p.T235T	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	311	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.T311T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	AGGGCCGCACGGATGGCTACC	0.627																																						ENST00000219070.4																			1	Substitution - coding silent(1)	p.T311T(1)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(931-933)acG>acA		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						72.0	60.0	64.0					16																	55522555		2198	4300	6498	SO:0001819	synonymous_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55522555G>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.933G>A	16.37:g.55522555G>A						MMP2_ENST00000570308.1_Silent_p.T235T|MMP2_ENST00000543485.1_Silent_p.T235T|MMP2_ENST00000437642.2_Silent_p.T261T	p.T311T	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	6	1442	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	311			Collagen-binding.|Fibronectin type-II 2.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.933G>A	CCDS10752.1																																																																																				0.627	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			9	24	0	0	0	1	0	9	24				
MROH2B	133558	broad.mit.edu	37	5	41005005	41005005	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:41005005G>C	ENST00000399564.4	-	36	4332	c.3882C>G	c.(3880-3882)atC>atG	p.I1294M	MROH2B_ENST00000506092.2_Missense_Mutation_p.I849M	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1294																	GCTTCCAAAGGATTGGTTCCT	0.512																																						ENST00000399564.4																			0											c.(3880-3882)atC>atG		maestro heat-like repeat family member 2B							89.0	86.0	87.0					5																	41005005		1991	4165	6156	SO:0001583	missense	133558							g.chr5:41005005G>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3882C>G	5.37:g.41005005G>C	ENSP00000382476:p.Ile1294Met					MROH2B_ENST00000506092.2_Missense_Mutation_p.I849M	p.I1294M	NM_173489.4	NP_775760.3					36	4332	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3882C>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.260047	0.39995	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.65178	-0.14;-0.14	6.0	3.06	0.35304	Armadillo-type fold (1);	0.710967	0.13357	N	0.393960	T	0.48447	0.1500	L	0.38175	1.15	0.30426	N	0.777632	P	0.36086	0.536	B	0.37550	0.253	T	0.51236	-0.8731	10	0.46703	T	0.11	.	3.9691	0.09446	0.0857:0.1628:0.5829:0.1686	.	1294	Q7Z745	HTRB2_HUMAN	M	849;999;1294	ENSP00000441504:I849M;ENSP00000382476:I1294M	ENSP00000296803:I999M	I	-	3	3	HEATR7B2	41040762	0.366000	0.25014	0.947000	0.38551	0.990000	0.78478	-0.067000	0.11579	0.832000	0.34804	0.643000	0.83706	ATC		0.512	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		4	51	0	0	0	1	0	4	51				
ZNF646	9726	broad.mit.edu	37	16	31089734	31089734	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr16:31089734C>T	ENST00000394979.2	+	1	2512	c.2089C>T	c.(2089-2091)Cgg>Tgg	p.R697W	ZNF646_ENST00000300850.5_Missense_Mutation_p.R697W			O15015	ZN646_HUMAN	zinc finger protein 646	697					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGCTGGACCCGGGAGCTAGA	0.642																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(2089-2091)Cgg>Tgg		zinc finger protein 646							34.0	42.0	40.0					16																	31089734		2196	4297	6493	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089734C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2089C>T	16.37:g.31089734C>T	ENSP00000378429:p.Arg697Trp					ZNF646_ENST00000300850.5_Missense_Mutation_p.R697W	p.R697W			O15015	ZN646_HUMAN			1	2512	+			697					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.2089C>T		.	.	.	.	.	.	.	.	.	.	C	13.77	2.335488	0.41398	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08458	3.09;3.12	5.64	2.47	0.30058	.	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	D	0.57257	0.979	B	0.39152	0.292	T	0.37842	-0.9688	9	0.66056	D	0.02	-5.311	10.0424	0.42166	0.276:0.5908:0.1332:0.0	.	697	O15015-2	.	W	697	ENSP00000300850:R697W;ENSP00000378429:R697W	ENSP00000300850:R697W	R	+	1	2	ZNF646	30997235	0.000000	0.05858	0.195000	0.23364	0.024000	0.10985	0.989000	0.29629	0.733000	0.32492	0.563000	0.77884	CGG		0.642	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		10	56	0	0	0	1	0	10	56				
ARSG	22901	broad.mit.edu	37	17	66416435	66416435	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:66416435G>A	ENST00000448504.2	+	12	2205	c.1409G>A	c.(1408-1410)aGa>aAa	p.R470K	RP11-120M18.2_ENST00000592030.1_RNA|ARSG_ENST00000452479.2_Missense_Mutation_p.R306K|WIPI1_ENST00000589459.1_5'Flank|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	470					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCCCTAGAAAGAGGTGGTGCG	0.562																																						ENST00000448504.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.(1408-1410)aGa>aAa		arylsulfatase G							135.0	125.0	128.0					17																	66416435		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66416435G>A	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1409G>A	17.37:g.66416435G>A	ENSP00000407193:p.Arg470Lys					ARSG_ENST00000452479.2_Missense_Mutation_p.R306K|ARSG_ENST00000582154.1_3'UTR|RP11-120M18.2_ENST00000592030.1_RNA	p.R470K	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		12	2205	+			470					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.1409G>A	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	5.551	0.286509	0.10513	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.88	-0.729	0.11158	Alkaline-phosphatase-like, core domain (1);	1.112750	0.06490	N	0.734367	T	0.19725	0.0474	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22452	-1.0216	9	0.05351	T	0.99	.	1.1054	0.01693	0.1866:0.3159:0.2486:0.2489	.	470	Q96EG1	ARSG_HUMAN	K	470;369	.	ENSP00000407193:R369K	R	+	2	0	ARSG	63928030	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.172000	0.16704	-0.029000	0.13827	0.655000	0.94253	AGA		0.562	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		9	87	0	0	0	1	0	9	87				
RHBDD3	25807	broad.mit.edu	37	22	29656760	29656760	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr22:29656760C>A	ENST00000216085.7	-	5	1050	c.626G>T	c.(625-627)tGg>tTg	p.W209L	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	209					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						CCTCAGGGGCCAGCACCCCGC	0.687																																						ENST00000216085.7																			0				lung(1)|ovary(1)	2						c.(625-627)tGg>tTg		rhomboid domain containing 3							16.0	17.0	17.0					22																	29656760		2197	4288	6485	SO:0001583	missense	25807					integral to membrane	serine-type endopeptidase activity	g.chr22:29656760C>A	AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 3"""	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.626G>T	22.37:g.29656760C>A	ENSP00000216085:p.Trp209Leu						p.W209L	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN			5	1050	-			209					Q6I9X3|Q9UGQ7	Missense_Mutation	SNP	ENST00000216085.7	37	c.626G>T	CCDS13850.1	.	.	.	.	.	.	.	.	.	.	C	6.851	0.526225	0.13066	.	.	ENSG00000100263	ENST00000216085	T	0.20881	2.04	4.86	4.86	0.63082	.	0.544871	0.16840	N	0.197377	T	0.20495	0.0493	L	0.57536	1.79	0.38818	D	0.955566	B	0.34103	0.437	B	0.30401	0.115	T	0.05566	-1.0877	10	0.10636	T	0.68	-2.8798	15.0204	0.71627	0.0:1.0:0.0:0.0	.	209	Q9Y3P4	RHBD3_HUMAN	L	209	ENSP00000216085:W209L	ENSP00000216085:W209L	W	-	2	0	RHBDD3	27986760	0.950000	0.32346	1.000000	0.80357	0.120000	0.20174	-0.393000	0.07305	2.538000	0.85594	0.655000	0.94253	TGG		0.687	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		3	6	1	0	1	1	1	3	6				
IDO1	3620	broad.mit.edu	37	8	39776344	39776344	+	Missense_Mutation	SNP	G	G	A	rs12545877	byFrequency	TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:39776344G>A	ENST00000518237.1	+	4	953	c.314G>A	c.(313-315)aGa>aAa	p.R105K	RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R105K|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	105					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	GTCTTGCCAAGAAATATTGCT	0.358													G|||	4	0.000798722	0.0015	0.0	5008	,	,		17949	0.001		0.001	False		,,,				2504	0.0					ENST00000518237.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(313-315)aGa>aAa		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						100.0	97.0	98.0					8																	39776344		1856	4095	5951	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39776344G>A	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.314G>A	8.37:g.39776344G>A	ENSP00000430950:p.Arg105Lys					RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R105K	p.R105K	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN			4	953	+			105					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.314G>A	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357384	0.24598	.	.	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.40225	1.04;1.04;1.04	5.85	0.941	0.19519	.	1.185640	0.05992	N	0.646254	T	0.27278	0.0669	N	0.17901	0.54	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22871	-1.0204	9	.	.	.	0.7428	7.5975	0.28056	0.4513:0.0:0.5487:0.0	rs12545877;rs12545877	105	P14902	I23O1_HUMAN	K	105	ENSP00000428716:R105K;ENSP00000430505:R105K;ENSP00000430950:R105K	.	R	+	2	0	IDO1	39895501	0.000000	0.05858	0.090000	0.20809	0.832000	0.47134	0.268000	0.18571	0.084000	0.17077	-0.252000	0.11476	AGA		0.358	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		9	55	0	0	0	1	0	9	55				
TLR1	7096	broad.mit.edu	37	4	38800318	38800318	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr4:38800318C>G	ENST00000502213.2	-	3	364	c.135G>C	c.(133-135)caG>caC	p.Q45H	TLR1_ENST00000308979.2_Missense_Mutation_p.Q45H			Q15399	TLR1_HUMAN	toll-like receptor 1	45					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTGTTGTTTTCTGGGATAGGT	0.313																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(133-135)caG>caC		toll-like receptor 1							80.0	88.0	85.0					4																	38800318		2198	4299	6497	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38800318C>G	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.135G>C	4.37:g.38800318C>G	ENSP00000421259:p.Gln45His					TLR1_ENST00000502213.2_Missense_Mutation_p.Q45H	p.Q45H	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	408	-			45					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.135G>C	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	C	9.404	1.078695	0.20227	.	.	ENSG00000174125	ENST00000308979;ENST00000502213;ENST00000505940;ENST00000515861;ENST00000506146	T;T;T;D;T	0.83591	2.23;2.23;4.3;-1.74;0.86	4.93	2.19	0.27852	.	1.015180	0.07900	N	0.972568	T	0.76926	0.4056	M	0.66939	2.045	0.09310	N	1	P	0.36483	0.555	B	0.32864	0.154	T	0.68648	-0.5353	10	0.66056	D	0.02	.	1.199	0.01880	0.1563:0.3182:0.3037:0.2217	.	45	Q15399	TLR1_HUMAN	H	45	ENSP00000354932:Q45H;ENSP00000421259:Q45H;ENSP00000421856:Q45H;ENSP00000423017:Q45H;ENSP00000423725:Q45H	ENSP00000354932:Q45H	Q	-	3	2	TLR1	38476713	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.930000	0.03972	0.744000	0.32741	-0.140000	0.14226	CAG		0.313	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			24	270	0	0	0	1	0	24	270				
SCUBE2	57758	broad.mit.edu	37	11	9101001	9101001	+	Missense_Mutation	SNP	A	A	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:9101001A>C	ENST00000309263.3	-	3	384	c.312T>G	c.(310-312)aaT>aaG	p.N104K	SCUBE2_ENST00000450649.2_Missense_Mutation_p.N104K|SCUBE2_ENST00000534295.1_5'Flank|SCUBE2_ENST00000520467.1_Missense_Mutation_p.N104K|SCUBE2_ENST00000457346.2_Missense_Mutation_p.N104K			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	104	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					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)		TGCCTGGAATATTCAAACAGT	0.408																																						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.(310-312)aaT>aaG		signal peptide, CUB domain, EGF-like 2							235.0	192.0	207.0					11																	9101001		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9101001A>C	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.312T>G	11.37:g.9101001A>C	ENSP00000310658:p.Asn104Lys					SCUBE2_ENST00000520467.1_Missense_Mutation_p.N104K|SCUBE2_ENST00000450649.2_Missense_Mutation_p.N104K|SCUBE2_ENST00000309263.3_Missense_Mutation_p.N104K	p.N104K			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	3	386	-			104			EGF-like 2; calcium-binding (Potential).		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.312T>G		.	.	.	.	.	.	.	.	.	.	A	21.0	4.079937	0.76528	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	5.37	-0.199	0.13220	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	H	0.94306	3.52	0.80722	D	1	D;D;P	0.63046	0.982;0.992;0.956	D;D;P	0.68039	0.954;0.955;0.802	D	0.92813	0.6266	10	0.87932	D	0	.	8.6846	0.34229	0.4:0.0:0.6:0.0	.	104;104;104	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	K	104	ENSP00000390481:N104K;ENSP00000310658:N104K;ENSP00000415187:N104K;ENSP00000429969:N104K	ENSP00000310658:N104K	N	-	3	2	SCUBE2	9057577	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.215000	0.42862	0.081000	0.16988	-0.250000	0.11733	AAT		0.408	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		14	123	0	0	0	1	0	14	123				
NOTCH3	4854	broad.mit.edu	37	19	15302802	15302802	+	Silent	SNP	G	G	A	rs368662463		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:15302802G>A	ENST00000263388.2	-	4	723	c.648C>T	c.(646-648)ggC>ggT	p.G216G		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	216	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AAGTGAGGTCGCCACTCTGCC	0.657																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(646-648)ggC>ggT		notch 3		G		0,4404		0,0,2202	53.0	48.0	50.0		648	-10.5	0.0	19		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NOTCH3	NM_000435.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		216/2322	15302802	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15302802G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.648C>T	19.37:g.15302802G>A							p.G216G	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		4	723	-			216			EGF-like 5.		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.648C>T	CCDS12326.1																																																																																				0.657	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		7	46	0	0	0	1	0	7	46				
PACS1	55690	broad.mit.edu	37	11	65983656	65983656	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:65983656G>C	ENST00000320580.4	+	5	760	c.727G>C	c.(727-729)Gtg>Ctg	p.V243L		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	243					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GGATGTCTCTGTGCCTGTGGC	0.522																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(727-729)Gtg>Ctg		phosphofurin acidic cluster sorting protein 1							120.0	98.0	105.0					11																	65983656		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65983656G>C	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.727G>C	11.37:g.65983656G>C	ENSP00000316454:p.Val243Leu						p.V243L	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			5	760	+			243					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.727G>C	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311330	0.23821	.	.	ENSG00000175115	ENST00000320580;ENST00000527380	T	0.24908	1.83	5.41	4.49	0.54785	.	0.389583	0.28151	N	0.016417	T	0.19765	0.0475	L	0.50919	1.6	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.09377	0.002;0.004	T	0.04522	-1.0945	10	0.11794	T	0.64	-22.5141	8.5846	0.33651	0.0796:0.0:0.7691:0.1513	.	243;243	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	L	243;145	ENSP00000316454:V243L	ENSP00000316454:V243L	V	+	1	0	PACS1	65740232	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	3.471000	0.53107	2.826000	0.97356	0.561000	0.74099	GTG		0.522	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		10	83	0	0	0	1	0	10	83				
RAC2	5880	broad.mit.edu	37	22	37637645	37637645	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr22:37637645C>T	ENST00000249071.6	-	2	210	c.89G>A	c.(88-90)gGa>gAa	p.G30E	RAC2_ENST00000401529.3_Missense_Mutation_p.G30E|RAC2_ENST00000405484.1_Missense_Mutation_p.G23E|RAC2_ENST00000406508.1_5'UTR	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	30					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	GATGTACTCTCCGGGAAAGGC	0.617																																						ENST00000249071.6																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(88-90)gGa>gAa		ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)							190.0	171.0	177.0					22																	37637645		2203	4300	6503	SO:0001583	missense	5880				axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37637645C>T	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.89G>A	22.37:g.37637645C>T	ENSP00000249071:p.Gly30Glu					RAC2_ENST00000405484.1_Missense_Mutation_p.G23E|RAC2_ENST00000401529.3_Missense_Mutation_p.G30E|RAC2_ENST00000406508.1_5'UTR	p.G30E	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN			2	210	-			30					Q9UDJ4	Missense_Mutation	SNP	ENST00000249071.6	37	c.89G>A	CCDS13945.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582706	0.46006	.	.	ENSG00000128340	ENST00000249071;ENST00000405484;ENST00000441619;ENST00000401529	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	5.62	4.6	0.57074	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	N	0.02286	-0.61	0.80722	D	1	B	0.22851	0.076	B	0.36534	0.227	T	0.62072	-0.6931	10	0.87932	D	0	.	14.1439	0.65336	0.0:0.9272:0.0:0.0728	.	30	P15153	RAC2_HUMAN	E	30;23;30;30	ENSP00000249071:G30E;ENSP00000385590:G23E;ENSP00000403778:G30E;ENSP00000385666:G30E	ENSP00000249071:G30E	G	-	2	0	RAC2	35967591	1.000000	0.71417	0.844000	0.33320	0.088000	0.18126	5.830000	0.69324	1.384000	0.46424	-0.136000	0.14681	GGA		0.617	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			14	127	0	0	0	1	0	14	127				
VCAN	1462	broad.mit.edu	37	5	82815353	82815353	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr5:82815353G>C	ENST00000265077.3	+	7	1793	c.1228G>C	c.(1228-1230)Gtc>Ctc	p.V410L	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.V410L|VCAN_ENST00000512590.2_Missense_Mutation_p.V362L|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	410	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAAAGCCACAGTCCAACCTCA	0.453																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(1228-1230)Gtc>Ctc		versican							108.0	108.0	108.0					5																	82815353		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815353G>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1228G>C	5.37:g.82815353G>C	ENSP00000265077:p.Val410Leu					VCAN_ENST00000512590.2_Missense_Mutation_p.V362L|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.V410L|VCAN_ENST00000343200.5_Intron	p.V410L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	1793	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	410			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.1228G>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	6.669	0.491918	0.12702	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86097	-1.96;-2.04;-2.07	5.92	-1.03	0.10102	.	1.626230	0.03183	N	0.172353	T	0.77478	0.4136	L	0.54323	1.7	0.09310	N	1	B;B	0.26195	0.079;0.144	B;B	0.18263	0.018;0.021	T	0.52503	-0.8567	10	0.17369	T	0.5	.	1.8294	0.03127	0.4485:0.1441:0.276:0.1314	.	410;410	P13611-3;P13611	.;CSPG2_HUMAN	L	410;410;362	ENSP00000265077:V410L;ENSP00000342768:V410L;ENSP00000425959:V362L	ENSP00000265077:V410L	V	+	1	0	VCAN	82851109	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	0.510000	0.22723	-0.095000	0.12351	-0.150000	0.13652	GTC		0.453	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		19	134	0	0	0	1	0	19	134				
DNMT3A	1788	broad.mit.edu	37	2	25505442	25505442	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:25505442G>A	ENST00000264709.3	-	4	653	c.316C>T	c.(316-318)Cct>Tct	p.P106S	DNMT3A_ENST00000321117.5_Missense_Mutation_p.P106S|DNMT3A_ENST00000406659.3_Missense_Mutation_p.P106S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	106					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCCAGCAGGGCTCCCCTCC	0.652			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(316-318)Cct>Tct		DNA (cytosine-5-)-methyltransferase 3 alpha							29.0	36.0	34.0					2																	25505442		2202	4299	6501	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25505442G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.316C>T	2.37:g.25505442G>A	ENSP00000264709:p.Pro106Ser					DNMT3A_ENST00000321117.5_Missense_Mutation_p.P106S|DNMT3A_ENST00000406659.3_Missense_Mutation_p.P106S	p.P106S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			4	653	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		106					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.316C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545763	0.65198	.	.	ENSG00000119772	ENST00000321117;ENST00000264709;ENST00000406659	D;D	0.94417	-3.42;-3.42	4.91	4.91	0.64330	.	0.162981	0.29253	N	0.012689	D	0.90184	0.6932	N	0.19112	0.55	0.45515	D	0.998474	P;B	0.51351	0.944;0.137	P;B	0.47470	0.548;0.012	D	0.87917	0.2701	10	0.15952	T	0.53	-3.5328	13.6256	0.62161	0.0:0.0:1.0:0.0	.	106;106	Q9Y6K1-3;Q9Y6K1	.;DNM3A_HUMAN	S	106	ENSP00000324375:P106S;ENSP00000264709:P106S	ENSP00000264709:P106S	P	-	1	0	DNMT3A	25358946	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.489000	0.60309	2.280000	0.76307	0.563000	0.77884	CCT		0.652	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		4	48	0	0	0	1	0	4	48				
WDR33	55339	broad.mit.edu	37	2	128481927	128481927	+	Silent	SNP	T	T	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:128481927T>A	ENST00000322313.4	-	11	1334	c.1176A>T	c.(1174-1176)tcA>tcT	p.S392S		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	392					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CATTTGAGCCTGAGCAGAGAA	0.428																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1174-1176)tcA>tcT		WD repeat domain 33							109.0	100.0	103.0					2																	128481927		2203	4300	6503	SO:0001819	synonymous_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128481927T>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1176A>T	2.37:g.128481927T>A							p.S392S	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	11	1334	-	Colorectal(110;0.1)		392					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	c.1176A>T	CCDS2150.1																																																																																				0.428	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		10	63	0	0	0	1	0	10	63				
ZNF99	7652	broad.mit.edu	37	19	22940045	22940045	+	IGR	SNP	C	C	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:22940045C>G	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.R762S|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTCCTAAGGGTTG	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2284-2286)agG>agC		zinc finger protein 99							42.0	49.0	46.0					19																	22940045		2038	4206	6244	SO:0001628	intergenic_variant	7652							g.chr19:22940045C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22940045C>G							p.R762S							6	2285	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2286G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	0.486	-0.877641	0.02550	.	.	ENSG00000213973	ENST00000397104	T	0.19806	2.12	1.14	-2.28	0.06826	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10465	0.0256	L	0.33189	0.99	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.40346	-0.9568	9	0.08599	T	0.76	.	2.7175	0.05191	0.2214:0.2387:0.0:0.5399	.	762	A8MXY4	ZNF99_HUMAN	S	762	ENSP00000380293:R762S	ENSP00000380293:R762S	R	-	3	2	ZNF99	22731885	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-1.446000	0.02398	-0.268000	0.09312	0.173000	0.16961	AGG		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		9	85	0	0	0	1	0	9	85				
FXYD7	53822	broad.mit.edu	37	19	35639599	35639599	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:35639599C>T	ENST00000270310.2	+	2	118	c.34C>T	c.(34-36)Cct>Tct	p.P12S	FXYD7_ENST00000586063.1_Missense_Mutation_p.P12S|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD7_ENST00000588265.1_Missense_Mutation_p.P12S	NM_022006.1	NP_071289.1	P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	12					ion transmembrane transport (GO:0034220)|regulation of ion transport (GO:0043269)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			tccctcAGCTCCTGAGGAACC	0.448																																						ENST00000270310.2																			0				NS(1)|endometrium(1)|lung(1)	3						c.(34-36)Cct>Tct		FXYD domain containing ion transport regulator 7							93.0	91.0	92.0					19																	35639599		2203	4300	6503	SO:0001583	missense	53822					integral to membrane	ion channel activity	g.chr19:35639599C>T	AI929519	CCDS12446.1	19q13.1	2008-02-05	2002-01-14			ENSG00000221946			4034	protein-coding gene	gene with protein product		606684	"""FXYD domain-containing ion transport regulator 7"""				Standard	NM_022006		Approved		uc002nye.1	P58549		ENST00000270310.2:c.34C>T	19.37:g.35639599C>T	ENSP00000270310:p.Pro12Ser					FXYD7_ENST00000588265.1_Missense_Mutation_p.P12S|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD7_ENST00000586063.1_Missense_Mutation_p.P12S	p.P12S	NM_022006.1	NP_071289.1	P58549	FXYD7_HUMAN	Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)		2	118	+	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		12						Missense_Mutation	SNP	ENST00000270310.2	37	c.34C>T	CCDS12446.1	.	.	.	.	.	.	.	.	.	.	C	7.947	0.744112	0.15710	.	.	ENSG00000221946	ENST00000270310	T	0.65549	-0.16	4.0	1.83	0.25207	.	.	.	.	.	T	0.43809	0.1264	.	.	.	0.25295	N	0.989323	B	0.22346	0.068	B	0.22386	0.039	T	0.29150	-1.0021	8	0.37606	T	0.19	.	4.355	0.11174	0.2263:0.6568:0.0:0.1169	.	12	P58549	FXYD7_HUMAN	S	12	ENSP00000270310:P12S	ENSP00000270310:P12S	P	+	1	0	FXYD7	40331439	0.938000	0.31826	0.745000	0.31077	0.830000	0.47004	0.684000	0.25364	1.038000	0.40049	-0.201000	0.12746	CCT		0.448	FXYD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460657.1	NM_022006		15	95	0	0	0	1	0	15	95				
PHF20L1	51105	broad.mit.edu	37	8	133858108	133858108	+	Missense_Mutation	SNP	A	A	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:133858108A>G	ENST00000395386.2	+	21	3293	c.2994A>G	c.(2992-2994)atA>atG	p.I998M	PHF20L1_ENST00000395390.2_Missense_Mutation_p.I973M|PHF20L1_ENST00000220847.7_Missense_Mutation_p.I385M|AF230666.2_ENST00000429151.1_RNA|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	998							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AACGCCACATAAAACAGCTCC	0.433																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(2992-2994)atA>atG		PHD finger protein 20-like 1							98.0	90.0	92.0					8																	133858108		1906	4124	6030	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133858108A>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2994A>G	8.37:g.133858108A>G	ENSP00000378784:p.Ile998Met					PHF20L1_ENST00000395390.2_Missense_Mutation_p.I973M|PHF20L1_ENST00000220847.7_Missense_Mutation_p.I385M	p.I998M	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		21	3293	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		998					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.2994A>G	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	8.799	0.932517	0.18131	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.46819	0.88;0.86	5.27	1.58	0.23477	.	0.558146	0.14657	U	0.306185	T	0.34803	0.0910	L	0.39147	1.195	0.26583	N	0.973336	B;B	0.23185	0.081;0.048	B;B	0.21360	0.034;0.015	T	0.28933	-1.0028	10	0.59425	D	0.04	-13.3889	6.0761	0.19915	0.2079:0.6053:0.0865:0.1002	.	973;998	F8W9L8;A8MW92	.;P20L1_HUMAN	M	998;385;973	ENSP00000378784:I998M;ENSP00000378788:I973M	ENSP00000220847:I385M	I	+	3	3	PHF20L1	133927290	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	0.775000	0.26689	0.499000	0.27970	0.460000	0.39030	ATA		0.433	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		20	105	0	0	0	1	0	20	105				
CHD3	1107	broad.mit.edu	37	17	7807798	7807798	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:7807798G>C	ENST00000330494.7	+	25	4083	c.3933G>C	c.(3931-3933)gaG>gaC	p.E1311D	CHD3_ENST00000358181.4_Missense_Mutation_p.E1311D|CHD3_ENST00000380358.4_Missense_Mutation_p.E1370D|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1311					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGCAGGAGGAGAATGTGGACC	0.517																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(4108-4110)gaG>gaC		chromodomain helicase DNA binding protein 3							141.0	128.0	133.0					17																	7807798		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7807798G>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3933G>C	17.37:g.7807798G>C	ENSP00000332628:p.Glu1311Asp					CHD3_ENST00000330494.7_Missense_Mutation_p.E1311D|CHD3_ENST00000358181.4_Missense_Mutation_p.E1311D	p.E1370D	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			25	4111	+		Prostate(122;0.202)	1311					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.4110G>C	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437012	0.43224	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.91351	-2.83;-2.76;-2.76	4.33	2.17	0.27698	Domain of unknown function DUF1087 (1);	0.000000	0.46758	D	0.000274	D	0.92782	0.7705	L	0.58583	1.82	0.58432	D	0.999992	D;D;D	0.69078	0.99;0.992;0.997	D;D;D	0.79108	0.98;0.989;0.992	D	0.91557	0.5261	10	0.48119	T	0.1	-29.5271	10.8161	0.46575	0.1835:0.0:0.8165:0.0	.	1311;1311;1370	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	D	1370;1311;1311	ENSP00000369716:E1370D;ENSP00000350907:E1311D;ENSP00000332628:E1311D	ENSP00000332628:E1311D	E	+	3	2	CHD3	7748523	1.000000	0.71417	0.995000	0.50966	0.784000	0.44337	4.653000	0.61462	1.023000	0.39654	0.561000	0.74099	GAG		0.517	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		8	96	0	0	0	1	0	8	96				
MEP1A	4224	broad.mit.edu	37	6	46793105	46793105	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr6:46793105C>T	ENST00000230588.4	+	8	662	c.653C>T	c.(652-654)tCa>tTa	p.S218L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	218	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGCCTTTCTCATTTAACAAG	0.428																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(652-654)tCa>tTa		meprin A, alpha (PABA peptide hydrolase)							188.0	162.0	171.0					6																	46793105		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46793105C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.653C>T	6.37:g.46793105C>T	ENSP00000230588:p.Ser218Leu						p.S218L	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		8	662	+			218			Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.653C>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469960	0.96274	.	.	ENSG00000112818	ENST00000230588	T	0.64438	-0.1	6.16	6.16	0.99307	Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.051109	0.85682	D	0.000000	T	0.76550	0.4003	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.76127	-0.3073	10	0.87932	D	0	-5.7972	20.8598	0.99761	0.0:1.0:0.0:0.0	.	246;218	B7ZL91;Q16819	.;MEP1A_HUMAN	L	218	ENSP00000230588:S218L	ENSP00000230588:S218L	S	+	2	0	MEP1A	46901064	1.000000	0.71417	0.973000	0.42090	0.981000	0.71138	7.506000	0.81665	2.937000	0.99478	0.650000	0.86243	TCA		0.428	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		12	93	0	0	0	1	0	12	93				
PPFIA2	8499	broad.mit.edu	37	12	81762966	81762966	+	Missense_Mutation	SNP	T	T	C			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr12:81762966T>C	ENST00000549396.1	-	12	1434	c.1274A>G	c.(1273-1275)gAg>gGg	p.E425G	PPFIA2_ENST00000407050.4_Missense_Mutation_p.E351G|PPFIA2_ENST00000541570.2_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E425G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E272G|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E425G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E326G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E407G|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E425G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E407G	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	425	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCATGTCTCTCTTCAGCCTG	0.308																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(1273-1275)gAg>gGg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							92.0	84.0	86.0					12																	81762966		1815	4071	5886	SO:0001583	missense	8499							g.chr12:81762966T>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1274A>G	12.37:g.81762966T>C	ENSP00000450337:p.Glu425Gly					PPFIA2_ENST00000550359.2_Missense_Mutation_p.E272G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E326G|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E407G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E407G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E351G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E425G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E425G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E425G	p.E425G	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			11	1569	-			351					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1274A>G	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.173649|4.173649	0.78452|0.78452	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058|ENST00000548790	T;T;T;T;T;T;T;T|.	0.38722|.	1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83695|0.83695	0.5310|0.5310	M|M	0.90425|0.90425	3.115|3.115	0.80722|0.80722	D|D	1|1	P|.	0.47762|.	0.9|.	B|.	0.39706|.	0.307|.	D|D	0.87140|0.87140	0.2202|0.2202	10|5	0.87932|.	D|.	0|.	-17.7118|-17.7118	15.7221|15.7221	0.77721|0.77721	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	425|.	O75334|.	LIPA2_HUMAN|.	G|G	425;407;351;436;407;425;326;425;6|264	ENSP00000450337:E425G;ENSP00000450298:E407G;ENSP00000385093:E351G;ENSP00000327416:E407G;ENSP00000449338:E425G;ENSP00000388373:E326G;ENSP00000447868:E425G;ENSP00000448941:E6G|.	ENSP00000327416:E407G|.	E|R	-|-	2|1	0|2	PPFIA2|PPFIA2	80287097|80287097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.174000|2.174000	0.68829|0.68829	0.460000|0.460000	0.39030|0.39030	GAG|AGA		0.308	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			3	22	0	0	0	1	0	3	22				
LAIR1	3903	broad.mit.edu	37	19	54868206	54868206	+	Silent	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:54868206C>T	ENST00000391742.2	-	6	629	c.477G>A	c.(475-477)ctG>ctA	p.L159L	LAIR1_ENST00000391743.3_Silent_p.L141L|LAIR1_ENST00000474878.1_Silent_p.L141L|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000434277.2_Silent_p.L158L|LAIR1_ENST00000313038.6_Silent_p.L152L|LAIR1_ENST00000348231.4_Silent_p.L142L			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	159					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GCTCAGCTTTCAGGCCTTGGG	0.493																																						ENST00000391743.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(421-423)ctG>ctA		leukocyte-associated immunoglobulin-like receptor 1							119.0	124.0	122.0					19																	54868206		2203	4300	6503	SO:0001819	synonymous_variant	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54868206C>T	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.477G>A	19.37:g.54868206C>T						LAIR1_ENST00000391742.2_Silent_p.L159L|LAIR1_ENST00000348231.4_Silent_p.L142L|LAIR1_ENST00000474878.1_Silent_p.L141L|LAIR1_ENST00000434277.2_Silent_p.L158L|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000313038.6_Silent_p.L152L	p.L141L			Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	5	703	-	Ovarian(34;0.19)		159						Silent	SNP	ENST00000391742.2	37	c.423G>A	CCDS12891.1																																																																																				0.493	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			12	116	0	0	0	1	0	12	116				
DEFB118	117285	broad.mit.edu	37	20	29960947	29960947	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:29960947C>G	ENST00000253381.2	+	2	379	c.346C>G	c.(346-348)Ctt>Gtt	p.L116V		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	116					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.L116I(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGAGACCTCTCTTCCAAATGT	0.433																																						ENST00000253381.2																			1	Substitution - Missense(1)	p.L116I(1)	pancreas(1)	breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(346-348)Ctt>Gtt		defensin, beta 118							86.0	86.0	86.0					20																	29960947		2203	4300	6503	SO:0001583	missense	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960947C>G	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.346C>G	20.37:g.29960947C>G	ENSP00000253381:p.Leu116Val						p.L116V	NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	379	+	all_hematologic(12;0.158)		116					Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	c.346C>G	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	3.881	-0.025953	0.07589	.	.	ENSG00000131068	ENST00000253381	T	0.10477	2.87	2.92	-0.494	0.12034	.	.	.	.	.	T	0.05914	0.0154	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.40308	-0.9570	9	0.31617	T	0.26	.	4.7654	0.13130	0.3706:0.3407:0.2886:0.0	.	116	Q96PH6	DB118_HUMAN	V	116	ENSP00000253381:L116V	ENSP00000253381:L116V	L	+	1	0	DEFB118	29424608	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.916000	0.01576	-0.064000	0.13043	0.557000	0.71058	CTT		0.433	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		8	67	0	0	0	1	0	8	67				
FOXL2NB	401089	broad.mit.edu	37	3	138669233	138669233	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:138669233C>T	ENST00000383165.3	+	3	478	c.347C>T	c.(346-348)tCc>tTc	p.S116F		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		116										large_intestine(1)|lung(3)	4						CTCAGCTCGTCCCGCGCCGCC	0.697																																						ENST00000383165.3																			0				large_intestine(1)|lung(3)	4						c.(346-348)tCc>tTc		chromosome 3 open reading frame 72							14.0	20.0	18.0					3																	138669233		1831	4086	5917	SO:0001583	missense	401089							g.chr3:138669233C>T																												ENST00000383165.3:c.347C>T	3.37:g.138669233C>T	ENSP00000372651:p.Ser116Phe						p.S116F	NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN			3	478	+			116					A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	c.347C>T	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	C	5.996	0.367690	0.11352	.	.	ENSG00000206262	ENST00000383165	.	.	.	3.33	-2.6	0.06190	.	.	.	.	.	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	B	0.26483	0.15	B	0.26094	0.066	T	0.19614	-1.0300	8	0.66056	D	0.02	.	1.8938	0.03253	0.175:0.3281:0.3567:0.1401	.	116	Q6ZUU3	CC072_HUMAN	F	116	.	ENSP00000372651:S116F	S	+	2	0	C3orf72	140151923	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.199000	0.17237	-0.670000	0.05282	-0.378000	0.06908	TCC		0.697	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			5	59	0	0	0	1	0	5	59				
LRFN5	145581	broad.mit.edu	37	14	42356272	42356272	+	Silent	SNP	C	C	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr14:42356272C>A	ENST00000298119.4	+	3	1633	c.444C>A	c.(442-444)gcC>gcA	p.A148A	LRFN5_ENST00000554171.1_Silent_p.A148A|LRFN5_ENST00000554120.1_Silent_p.A148A	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	148						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGTCTTCGCCCTTGAGGAGC	0.393										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(442-444)gcC>gcA		leucine rich repeat and fibronectin type III domain containing 5							88.0	79.0	82.0					14																	42356272		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356272C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.444C>A	14.37:g.42356272C>A		HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Silent_p.A148A|LRFN5_ENST00000298119.4_Silent_p.A148A	p.A148A			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2876	+			148					B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.444C>A	CCDS9678.1																																																																																				0.393	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		13	115	1	0	1.5842e-08	1	1.72999e-08	13	115				
SSX2IP	117178	broad.mit.edu	37	1	85121552	85121552	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:85121552C>T	ENST00000342203.3	-	11	1615	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	SSX2IP_ENST00000437941.2_Missense_Mutation_p.R424Q|SSX2IP_ENST00000605755.1_Missense_Mutation_p.R424Q|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.R451Q	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	451					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGTAAAGCTTCGTCTCTCCCT	0.413																																						ENST00000437941.2																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19						c.(1270-1272)cGa>cAa		synovial sarcoma, X breakpoint 2 interacting protein							91.0	90.0	91.0					1																	85121552		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85121552C>T		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1352G>A	1.37:g.85121552C>T	ENSP00000340279:p.Arg451Gln					SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.R451Q|SSX2IP_ENST00000342203.3_Missense_Mutation_p.R451Q|SSX2IP_ENST00000605755.1_Missense_Mutation_p.R424Q	p.R424Q	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	10	1623	-			451					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.1271G>A	CCDS699.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109665	0.56398	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.45276	0.9;0.9	5.6	5.6	0.85130	.	0.111154	0.64402	D	0.000015	T	0.17152	0.0412	L	0.36672	1.1	0.35439	D	0.79472	P;B;B	0.39181	0.663;0.002;0.002	B;B;B	0.26614	0.071;0.002;0.003	T	0.20538	-1.0272	10	0.72032	D	0.01	0.0779	12.4075	0.55449	0.0:0.8789:0.0:0.1211	.	447;451;424	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	Q	451;424;447;451	ENSP00000340279:R451Q;ENSP00000412781:R424Q	ENSP00000340279:R451Q	R	-	2	0	SSX2IP	84894140	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.065000	0.41442	2.648000	0.89879	0.591000	0.81541	CGA		0.413	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		10	104	0	0	0	1	0	10	104				
OR4F17	81099	broad.mit.edu	37	19	110700	110700	+	Silent	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:110700C>T	ENST00000585993.1	+	2	161	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	OR4F17_ENST00000318050.3_Silent_p.L8L			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTCATTTTTCTGGGTCTCTC	0.393																																						ENST00000585993.1																			0				lung(2)	2						c.(22-24)Ctg>Ttg		olfactory receptor, family 4, subfamily F, member 17							242.0	232.0	235.0					19																	110700		2202	4298	6500	SO:0001819	synonymous_variant	81099				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:110700C>T	AC005605	CCDS32854.1	19p13.3	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15381	protein-coding gene	gene with protein product				OR4F19, OR4F11P, OR4F18			Standard	NM_001005240		Approved		uc002loc.1	Q8NGA8		ENST00000585993.1:c.22C>T	19.37:g.110700C>T						OR4F17_ENST00000318050.3_Silent_p.L8L	p.L8L			Q8NGA8	O4F17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	161	+		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	8					B2RNE8	Silent	SNP	ENST00000585993.1	37	c.22C>T	CCDS32854.1																																																																																				0.393	OR4F17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451410.1			41	825	0	0	0	1	0	41	825				
CHRM3	1131	broad.mit.edu	37	1	240070945	240070945	+	Missense_Mutation	SNP	T	T	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:240070945T>A	ENST00000255380.4	+	5	973	c.194T>A	c.(193-195)gTc>gAc	p.V65D		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	65			V -> I (in dbSNP:rs2067481).		cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGTCATACCGTCTGGCAAGTG	0.517																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(193-195)gTc>gAc		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						132.0	117.0	122.0					1																	240070945		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070945T>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.194T>A	1.37:g.240070945T>A	ENSP00000255380:p.Val65Asp						p.V65D	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	973	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	65		V -> I (in dbSNP:rs2067481).			Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.194T>A	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.206001	0.39003	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.35973	1.28;1.28	5.6	5.6	0.85130	.	0.592340	0.16364	N	0.217648	T	0.40791	0.1131	L	0.54323	1.7	0.80722	D	1	B	0.29716	0.255	B	0.33890	0.172	T	0.31558	-0.9939	10	0.62326	D	0.03	-6.6566	16.0863	0.81056	0.0:0.0:0.0:1.0	.	65	P20309	ACM3_HUMAN	D	65	ENSP00000255380:V65D;ENSP00000404764:V65D	ENSP00000255380:V65D	V	+	2	0	CHRM3	238137568	1.000000	0.71417	0.926000	0.36857	0.577000	0.36160	6.219000	0.72231	2.251000	0.74343	0.528000	0.53228	GTC		0.517	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		9	98	0	0	0	1	0	9	98				
GGH	8836	broad.mit.edu	37	8	63942735	63942735	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr8:63942735G>A	ENST00000260118.6	-	3	668	c.266C>T	c.(265-267)tCt>tTt	p.S89F	GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	89	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	CCCATTAATAGATTTGAAAAG	0.294																																						ENST00000260118.6																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11						c.(265-267)tCt>tTt		gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)						106.0	109.0	108.0					8																	63942735		2203	4292	6495	SO:0001583	missense	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63942735G>A	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.266C>T	8.37:g.63942735G>A	ENSP00000260118:p.Ser89Phe					GGH_ENST00000518113.1_5'UTR	p.S89F	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN			3	668	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	89			Gamma-glutamyl hydrolase.			Missense_Mutation	SNP	ENST00000260118.6	37	c.266C>T	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853161	0.71719	.	.	ENSG00000137563	ENST00000260118;ENST00000517622	T	0.45668	0.89	5.45	5.45	0.79879	.	0.096332	0.85682	D	0.000000	T	0.70430	0.3223	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70044	-0.4980	10	0.16896	T	0.51	-5.4469	18.4335	0.90634	0.0:0.0:1.0:0.0	.	89	Q92820	GGH_HUMAN	F	89;50	ENSP00000260118:S89F	ENSP00000260118:S89F	S	-	2	0	GGH	64105289	1.000000	0.71417	0.610000	0.28997	0.664000	0.39144	7.397000	0.79903	2.716000	0.92895	0.655000	0.94253	TCT		0.294	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			12	127	0	0	0	1	0	12	127				
PCSK2	5126	broad.mit.edu	37	20	17434461	17434461	+	Silent	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:17434461C>T	ENST00000262545.2	+	9	1275	c.960C>T	c.(958-960)gaC>gaT	p.D320D	PCSK2_ENST00000536609.1_Silent_p.D285D|PCSK2_ENST00000377899.1_Silent_p.D301D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	320	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.D320D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCAACTGCGACGGCTACGCCT	0.647																																						ENST00000262545.2																			1	Substitution - coding silent(1)	p.D320D(1)	pancreas(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(958-960)gaC>gaT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						124.0	92.0	103.0					20																	17434461		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17434461C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.960C>T	20.37:g.17434461C>T						PCSK2_ENST00000536609.1_Silent_p.D285D|PCSK2_ENST00000377899.1_Silent_p.D301D	p.D320D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			9	1275	+			320			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.960C>T	CCDS13125.1																																																																																				0.647	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		13	89	0	0	0	1	0	13	89				
SPATS2L	26010	broad.mit.edu	37	2	201304030	201304030	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr2:201304030G>A	ENST00000358677.5	+	7	878	c.631G>A	c.(631-633)Gat>Aat	p.D211N	SPATS2L_ENST00000409140.3_Missense_Mutation_p.D211N|SPATS2L_ENST00000409755.3_Missense_Mutation_p.D241N|SPATS2L_ENST00000409151.1_Missense_Mutation_p.D219N|SPATS2L_ENST00000409718.1_Missense_Mutation_p.D211N|SPATS2L_ENST00000451764.2_Missense_Mutation_p.D211N|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409988.3_Missense_Mutation_p.D211N|SPATS2L_ENST00000409385.1_Missense_Mutation_p.D151N	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	211						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AATAAAGCCAGATGAGTTGGC	0.413																																						ENST00000409988.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(631-633)Gat>Aat		spermatogenesis associated, serine-rich 2-like							78.0	73.0	74.0					2																	201304030		1869	4109	5978	SO:0001583	missense	26010					cytoplasm|nucleolus		g.chr2:201304030G>A	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.631G>A	2.37:g.201304030G>A	ENSP00000351503:p.Asp211Asn					SPATS2L_ENST00000409151.1_Missense_Mutation_p.D219N|SPATS2L_ENST00000409385.1_Missense_Mutation_p.D151N|SPATS2L_ENST00000451764.2_Missense_Mutation_p.D211N|SPATS2L_ENST00000409755.3_Missense_Mutation_p.D241N|SPATS2L_ENST00000409140.3_Missense_Mutation_p.D211N|SPATS2L_ENST00000409718.1_Missense_Mutation_p.D211N|SPATS2L_ENST00000358677.4_Missense_Mutation_p.D211N|SPATS2L_ENST00000360760.5_Intron	p.D211N	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN			7	1154	+			211					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	c.631G>A	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248218	0.80024	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000007	T	0.67392	0.2888	L	0.40543	1.245	0.46654	D	0.999141	D;D	0.76494	0.999;0.989	D;P	0.85130	0.997;0.871	T	0.59316	-0.7477	9	0.19147	T	0.46	-23.9527	17.4024	0.87464	0.0:0.0:1.0:0.0	.	241;211	B4DT67;Q9NUQ6	.;SPS2L_HUMAN	N	211;211;211;151;211;211;241;219	.	ENSP00000351503:D211N	D	+	1	0	SPATS2L	201012275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.726000	0.68515	2.781000	0.95711	0.650000	0.86243	GAT		0.413	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		9	46	0	0	0	1	0	9	46				
EHHADH	1962	broad.mit.edu	37	3	184922274	184922274	+	Silent	SNP	C	C	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:184922274C>T	ENST00000231887.3	-	6	915	c.840G>A	c.(838-840)aaG>aaA	p.K280K	EHHADH_ENST00000456310.1_Silent_p.K184K	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	280	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GAGTTGACCACTTATTTGCTT	0.493																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(838-840)aaG>aaA		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						124.0	121.0	122.0					3																	184922274		2203	4300	6503	SO:0001819	synonymous_variant	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184922274C>T	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.840G>A	3.37:g.184922274C>T						EHHADH_ENST00000456310.1_Silent_p.K184K	p.K280K	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		6	915	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		280			Enoyl-CoA hydratase / isomerase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	ENST00000231887.3	37	c.840G>A	CCDS33901.1																																																																																				0.493	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			12	180	0	0	0	1	0	12	180				
RP11-556N21.1	0	broad.mit.edu	37	13	25144712	25144712	+	RNA	SNP	A	A	C	rs71218558|rs3742169	byFrequency	TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr13:25144712A>C	ENST00000453498.1	+	0	253																											TGTGTTTAACACAGCCCCTGC	0.393													c|||	2404	0.480032	0.4879	0.4798	5008	,	,		15600	0.4266		0.3976	False		,,,				2504	0.6094					ENST00000453498.1																			0																																																			374491							g.chr13:25144712A>C																													13.37:g.25144712A>C														0	253	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.393	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	47	0	0	0	1	0	3	47				
TTLL10	254173	broad.mit.edu	37	1	1116223	1116223	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:1116223delG	ENST00000379290.1	+	8	911	c.738delG	c.(736-738)ccgfs	p.P246fs	TTLL10_ENST00000379288.3_Frame_Shift_Del_p.P173fs|TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Frame_Shift_Del_p.P246fs			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	246	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAAGGTGCCGGGGGGGGTCC	0.721																																						ENST00000379290.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7						c.(736-738)ccfs		tubulin tyrosine ligase-like family, member 10			,	51,92,4003		2,0,47,6,80,1938	15.0	15.0	15.0		,	0.2	0.0	1		16	92,171,7837		3,1,85,4,162,3795	no	codingComplex,codingComplex	TTLL10	NM_153254.2,NM_001130045.1	,	5,1,132,10,242,5733	A1A1,A1A2,A1R,A2A2,A2R,RR		3.2469,3.4491,3.3154	,	,	1116223	143,263,11840	2180	4277	6457	SO:0001589	frameshift_variant	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1116223delG	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.738delG	1.37:g.1116223delG	ENSP00000368592:p.Pro246fs					TTLL10_ENST00000379289.1_Frame_Shift_Del_p.P246fs|TTLL10_ENST00000379288.3_Frame_Shift_Del_p.P173fs	p.P246fs			Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	8	911	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	246			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Frame_Shift_Del	DEL	ENST00000379290.1	37	c.738delG	CCDS44036.1																																																																																				0.721	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		3	6						3	6	---	---	---	---
PKP1	5317	broad.mit.edu	37	1	201287782	201287783	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr1:201287782_201287783insGG	ENST00000352845.3	+	6	1091_1092	c.1091_1092insGG	c.(1090-1095)aaggagfs	p.E365fs	PKP1_ENST00000263946.3_Frame_Shift_Ins_p.E365fs|PKP1_ENST00000367324.3_Frame_Shift_Ins_p.E365fs|PKP1_ENST00000475988.1_3'UTR			Q13835	PKP1_HUMAN	plakophilin 1	365					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GACGAGCTGAAGGAGGAACTCA	0.589																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1090-1092)agafs		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)																																				SO:0001589	frameshift_variant	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201287782_201287783insGG	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1092_1093dupGG	1.37:g.201287783_201287784dupGG	ENSP00000295597:p.Glu365fs					PKP1_ENST00000367324.3_Frame_Shift_Ins_p.R364fs|PKP1_ENST00000352845.3_Frame_Shift_Ins_p.R364fs|PKP1_ENST00000475988.1_3'UTR	p.R364fs	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			6	1342_1343	+			364					O00645|Q14CA0|Q15152	Frame_Shift_Ins	INS	ENST00000352845.3	37	c.1091_1092insGG	CCDS30966.1																																																																																				0.589	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		13	54						13	54	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)aacfs	p.N554fs	VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.N554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.N554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.N554fs|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTGCTGAGGTTTTTTTTTAA	0.396																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1660-1662)actfs		ventricular zone expressed PH domain-containing 1																																				SO:0001589	frameshift_variant	79674					plasma membrane		g.chr3:157081226_157081227insT	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1662dupA	3.37:g.157081235_157081235dupT	ENSP00000354919:p.Asn554fs					VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.T554fs|RP11-550I24.2_ENST00000487238.1_RNA	p.T554fs	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		9	1968_1969	-			554					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Frame_Shift_Ins	INS	ENST00000362010.2	37	c.1661_1662insA	CCDS3179.1																																																																																				0.396	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		7	353						7	353	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175897464	175897464	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr4:175897464delG	ENST00000359240.3	+	5	1458	c.788delG	c.(787-789)aggfs	p.R263fs	ADAM29_ENST00000404450.4_Frame_Shift_Del_p.R263fs|ADAM29_ENST00000445694.1_Frame_Shift_Del_p.R263fs|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Frame_Shift_Del_p.R263fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	263	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATGATGTAAGGAAATCTGTG	0.403																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(787-789)agfs		ADAM metallopeptidase domain 29							137.0	135.0	136.0					4																	175897464		2203	4300	6503	SO:0001589	frameshift_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897464delG	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.788delG	4.37:g.175897464delG	ENSP00000352177:p.Arg263fs					ADAM29_ENST00000404450.4_Frame_Shift_Del_p.R263fs|ADAM29_ENST00000514159.1_Frame_Shift_Del_p.R263fs|ADAM29_ENST00000445694.1_Frame_Shift_Del_p.R263fs	p.R263fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1458	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	263			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Frame_Shift_Del	DEL	ENST00000359240.3	37	c.788delG	CCDS3823.1																																																																																				0.403	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				20	124						20	124	---	---	---	---
CELP	1057	broad.mit.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs10901234|rs386739105|rs74753118|rs386739104	byFrequency	TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2				carboxyl ester lipase pseudogene																		AGGATGCCCCTGTGCCCCTCA	0.677													T|T|-|deletion	2605	0.520168	0.3169	0.6527	5008	,	,		13192	0.6647		0.5915	False		,,,				2504	0.4785					ENST00000411440.2																			0																																																			1057							g.chr9:135962465delT	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962465delT								NR_001275.2						0	972	+									RNA	DEL	ENST00000411440.2	37																																																																																						0.677	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		2	4						2	4	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662745	6662746	+	In_Frame_Ins	INS	-	-	CAG	rs376287018|rs372916982|rs370785084|rs56194704		TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:6662745_6662746insCAG	ENST00000299441.3	-	2	510_511	c.99_100insCTG	c.(97-102)ctgggg>ctgCTGggg	p.33_34insL		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCCAGCCCCcagcagcagca	0.639																																						ENST00000299441.3																			1	Insertion - In frame(1)	p.L33_G34insL(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(97-102)ctgggc>ctCTGgggc		dachsous cadherin-related 1																																				SO:0001652	inframe_insertion	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662745_6662746insCAG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99dupCTG	11.37:g.6662752_6662754dupCAG	ENSP00000299441:p.Leu33_Leu33dup						p.33_34LG>LWG	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	510_511	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	33					O15098	In_Frame_Ins	INS	ENST00000299441.3	37	c.99_100insCTG	CCDS7771.1																																																																																				0.639	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		5	7						5	7	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904894	55904894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr11:55904894delG	ENST00000301529.1	-	1	300	c.301delC	c.(301-303)ctgfs	p.L101fs		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AACCCTCCCAGTTGGGTGGCA	0.428																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(301-303)tgfs		olfactory receptor, family 8, subfamily J, member 3							151.0	143.0	146.0					11																	55904894		2201	4296	6497	SO:0001589	frameshift_variant	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904894delG		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.301delC	11.37:g.55904894delG	ENSP00000301529:p.Leu101fs						p.L101fs	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	300	-	Esophageal squamous(21;0.00693)		101					Q6IFB6|Q96RC2	Frame_Shift_Del	DEL	ENST00000301529.1	37	c.301delC	CCDS31520.1																																																																																				0.428	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		33	203						33	203	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85115423	85115423	+	RNA	DEL	T	T	-			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr15:85115423delT	ENST00000339094.1	-	0	0				LINC00933_ENST00000557887.1_RNA	NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		CATAATGCTCttttttttttt	0.393																																						ENST00000557887.1																			0																																																			100506874							g.chr15:85115423delT			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85115423delT								NR_038273.1|NR_038274.1						0	1	+									RNA	DEL	ENST00000339094.1	37																																																																																						0.393	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		7	15						7	15	---	---	---	---
UPF3AP2	147150	broad.mit.edu	37	17	20279654	20279655	+	RNA	INS	-	-	T	rs200407551|rs201092359|rs530996042	byFrequency	TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr17:20279654_20279655insT	ENST00000578315.1	-	0	51_52									UPF3A pseudogene 2																		atctgtctctcttttttttttt	0.381																																						ENST00000578315.1																			0																																																			147150							g.chr17:20279654_20279655insT			17p11.2	2013-09-13	2013-09-13			ENSG00000214832			30567	pseudogene	pseudogene			"""UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 2"""			11997339	Standard	NG_001546		Approved						17.37:g.20279665_20279665dupT														0	51_52	-									RNA	INS	ENST00000578315.1	37																																																																																						0.381	UPF3AP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443627.1	NG_001546		4	2						4	2	---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50918125	50918127	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:50918125_50918127delCTC	ENST00000440232.2	+	20	2495_2497	c.2442_2444delCTC	c.(2440-2445)ttctcc>ttc	p.S816del	POLD1_ENST00000599857.1_In_Frame_Del_p.S816del|CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000595904.1_In_Frame_Del_p.S842del	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	816					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCCTGCTCTTCTCCTCCCGGCCC	0.66								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2440-2445)ttc>tt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit				21,4243		10,1,2121						3.8	1.0			52	13,8241		6,1,4120	no	coding	POLD1	NM_002691.2		16,2,6241	A1A1,A1R,RR		0.1575,0.4925,0.2716				34,12484				SO:0001651	inframe_deletion	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50918125_50918127delCTC		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2442_2444delCTC	19.37:g.50918128_50918130delCTC	ENSP00000406046:p.Ser816del		OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	973	POLD1_ENST00000599857.1_In_Frame_Del_p.FS814del|POLD1_ENST00000595904.1_In_Frame_Del_p.FS840del	p.FS814del	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	20	2495_2497	+		all_neural(266;0.0571)	814					Q8NER3|Q96H98	In_Frame_Del	DEL	ENST00000440232.2	37	c.2442_2444delCTC	CCDS12795.1																																																																																				0.660	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			8	106						8	106	---	---	---	---
ZNF813	126017	broad.mit.edu	37	19	53995003	53995003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr19:53995003delG	ENST00000396403.4	+	4	1645	c.1517delG	c.(1516-1518)cggfs	p.R506fs	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GGTTTTAATCGGAAAACACAC	0.403																																						ENST00000396403.4																			0				large_intestine(1)	1						c.(1516-1518)cgfs		zinc finger protein 813							50.0	53.0	52.0					19																	53995003		2198	4299	6497	SO:0001589	frameshift_variant	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53995003delG	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1517delG	19.37:g.53995003delG	ENSP00000379684:p.Arg506fs					ZNF813_ENST00000396421.4_Intron	p.R506fs	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1645	+			506						Frame_Shift_Del	DEL	ENST00000396403.4	37	c.1517delG	CCDS46172.1																																																																																				0.403	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		16	105						16	105	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9424842	9424842	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr20:9424842delA	ENST00000378493.1	+	28	2811	c.2796delA	c.(2794-2796)ttafs	p.L932fs	PLCB4_ENST00000414679.2_Frame_Shift_Del_p.L944fs|PLCB4_ENST00000278655.4_Frame_Shift_Del_p.L932fs|PLCB4_ENST00000378501.2_Frame_Shift_Del_p.L932fs|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Frame_Shift_Del_p.L944fs|PLCB4_ENST00000334005.3_Frame_Shift_Del_p.L932fs			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	932					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAAGCATTTAAAGAAACAGC	0.308																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2794-2796)ttfs		phospholipase C, beta 4							66.0	67.0	67.0					20																	9424842		2203	4298	6501	SO:0001589	frameshift_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9424842delA		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2796delA	20.37:g.9424842delA	ENSP00000367754:p.Leu932fs					PLCB4_ENST00000414679.2_Frame_Shift_Del_p.L944fs|PLCB4_ENST00000378493.1_Frame_Shift_Del_p.L932fs|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Frame_Shift_Del_p.L932fs|PLCB4_ENST00000378473.3_Frame_Shift_Del_p.L944fs|PLCB4_ENST00000278655.4_Frame_Shift_Del_p.L932fs	p.L932fs	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			28	2811	+			932					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Frame_Shift_Del	DEL	ENST00000378493.1	37	c.2796delA	CCDS13105.1																																																																																				0.308	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			35	215						35	215	---	---	---	---
PIGP	51227	broad.mit.edu	37	21	38444895	38444895	+	De_novo_Start_InFrame	DEL	T	T	-			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr21:38444895delT	ENST00000464265.1	-	0	216				TTC3_ENST00000399010.1_5'Flank|PIGP_ENST00000399102.1_Intron|PIGP_ENST00000360525.4_Intron|PIGP_ENST00000329667.3_5'Flank|TTC3_ENST00000540756.1_5'Flank|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399098.1_Intron|TTC3_ENST00000355666.1_5'Flank	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				CATTGATCCATTCTCGCCTCC	0.637																																						ENST00000464265.1																			0				kidney(1)|urinary_tract(1)	2								phosphatidylinositol glycan anchor biosynthesis, class P							99.0	101.0	101.0					21																	38444895		2203	4300	6503			51227				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr21:38444895delT	AB037162	CCDS13649.1, CCDS13650.1	21q22.2	2013-02-26	2006-06-28	2005-11-10	ENSG00000185808	ENSG00000185808	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	3046	protein-coding gene	gene with protein product	"""phosphatidylinositol-n-acetylglucosaminyltranferase subunit"""	605938	"""Down syndrome critical region gene 5"", ""phosphatidylinositol glycan, class P"""	DSCR5		10814524, 15221505	Standard	NR_028352		Approved	DCRC, DSRC	uc002yvw.1	P57054	OTTHUMG00000086653		21.37:g.38444895delT						PIGP_ENST00000399102.1_Intron|PIGP_ENST00000360525.3_Intron|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399098.1_Intron		NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN			0	216	-		Myeloproliferative disorder(46;0.0412)						B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6	Translation_Start_Site	DEL	ENST00000464265.1	37		CCDS13649.1																																																																																				0.637	PIGP-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194769.2	NM_153681		44	156						44	156	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-TN-A7HJ-01A-12D-A34J-08	TCGA-TN-A7HJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0f1f591-4348-43e6-aac0-ef6109c7e974	d84baa10-8821-4e2e-89ac-b77dd5c473b2	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT														0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			2	4						2	4	---	---	---	---
