#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
UBR4	23352	broad.mit.edu	37	1	19404540	19404540	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:19404540T>C	ENST00000375254.3	-	104	15281	c.15254A>G	c.(15253-15255)aAg>aGg	p.K5085R	UBR4_ENST00000375217.2_Missense_Mutation_p.K5078R|UBR4_ENST00000429347.2_Missense_Mutation_p.K608R|UBR4_ENST00000375224.1_Missense_Mutation_p.K792R|UBR4_ENST00000375225.3_Missense_Mutation_p.K160R|UBR4_ENST00000375226.2_Missense_Mutation_p.K5061R|UBR4_ENST00000543981.1_Missense_Mutation_p.K749R|RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000375267.2_Missense_Mutation_p.K5085R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5085					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGAATAGTCCTTCACTGCCTT	0.493																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(15253-15255)aAg>aGg		ubiquitin protein ligase E3 component n-recognin 4							143.0	102.0	116.0					1																	19404540		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19404540T>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15254A>G	1.37:g.19404540T>C	ENSP00000364403:p.Lys5085Arg					UBR4_ENST00000375225.3_Missense_Mutation_p.K160R|UBR4_ENST00000543981.1_Missense_Mutation_p.K749R|UBR4_ENST00000375254.3_Missense_Mutation_p.K5085R|UBR4_ENST00000375224.1_Missense_Mutation_p.K792R|UBR4_ENST00000429347.2_Missense_Mutation_p.K608R|UBR4_ENST00000375226.2_Missense_Mutation_p.K5061R|UBR4_ENST00000375217.2_Missense_Mutation_p.K5078R	p.K5085R			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	104	15257	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	5085					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.15254A>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945509	0.53079	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375225;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.24661	0.0598	L	0.36672	1.1	0.49798	D	0.999828	B;B;B;B	0.12630	0.001;0.001;0.006;0.003	B;B;B;B	0.14023	0.004;0.002;0.01;0.002	T	0.05162	-1.0902	10	0.46703	T	0.11	.	9.683	0.40080	0.0:0.0774:0.0:0.9226	.	749;608;5085;5061	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	R	5085;5085;5078;5061;160;792;608;749	ENSP00000364403:K5085R;ENSP00000364416:K5085R;ENSP00000364365:K5078R;ENSP00000364374:K5061R;ENSP00000364373:K160R;ENSP00000364372:K792R;ENSP00000394173:K608R;ENSP00000444070:K749R	ENSP00000364365:K5078R	K	-	2	0	UBR4	19277127	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.585000	0.60977	2.275000	0.75901	0.529000	0.55759	AAG		0.493	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		13	31	0	0	0	1	0	13	31				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74715151	74715151	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:74715151A>C	ENST00000370899.3	+	5	498	c.461A>C	c.(460-462)gAa>gCa	p.E154A	FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.E154A|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E167A|FPGT-TNNI3K_ENST00000533006.1_3'UTR|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E154A|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E53A	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		AGCTCTGATGAAGCCTTCAGT	0.323																																						ENST00000370895.1																			0											c.(460-462)gAa>gCa									133.0	134.0	134.0					1																	74715151		2202	4300	6502	SO:0001583	missense	100526835					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74715151A>C			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.461A>C	1.37:g.74715151A>C	ENSP00000359936:p.Glu154Ala					TNNI3K_ENST00000326637.3_Missense_Mutation_p.E53A|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E154A|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E154A|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E154A	p.E154A			Q59H18	TNI3K_HUMAN			5	496	+			53						Missense_Mutation	SNP	ENST00000370899.3	37	c.461A>C		.	.	.	.	.	.	.	.	.	.	A	24.0	4.487580	0.84854	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.75367	-0.92;-0.62;-0.92;-0.92;-0.93	5.83	5.83	0.93111	.	0.105910	0.64402	D	0.000006	T	0.60818	0.2298	L	0.34521	1.04	0.52501	D	0.999957	B;B;B;P	0.50819	0.302;0.03;0.449;0.939	B;B;B;P	0.45406	0.107;0.02;0.133;0.479	T	0.67806	-0.5575	10	0.56958	D	0.05	.	15.8742	0.79148	1.0:0.0:0.0:0.0	.	53;154;154;154	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	A	154;154;154;154;53	ENSP00000359936:E154A;ENSP00000359932:E154A;ENSP00000450895:E154A;ENSP00000359928:E154A;ENSP00000322251:E53A	ENSP00000322251:E53A	E	+	2	0	RP11-653A5.2;AC093158.1	74487739	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.106000	0.71511	2.236000	0.73375	0.533000	0.62120	GAA		0.323	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			11	32	0	0	0	1	0	11	32				
KIAA0408	9729	broad.mit.edu	37	6	127767648	127767648	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:127767648C>G	ENST00000483725.3	-	5	2152	c.1816G>C	c.(1816-1818)Gaa>Caa	p.E606Q	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	606										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TGGAGCATTTCTAAATGCTGA	0.428																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1816-1818)Gaa>Caa		KIAA0408							183.0	171.0	175.0					6																	127767648		2203	4300	6503	SO:0001583	missense	9729						protein binding	g.chr6:127767648C>G	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1816G>C	6.37:g.127767648C>G	ENSP00000435150:p.Glu606Gln					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.E606Q	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2152	-			606					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	c.1816G>C	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158769	0.38119	.	.	ENSG00000189367	ENST00000483725	T	0.23552	1.9	5.23	1.35	0.21983	.	0.870787	0.09359	U	0.812949	T	0.09069	0.0224	L	0.45581	1.43	0.22226	N	0.999271	P	0.40211	0.707	B	0.36244	0.22	T	0.20773	-1.0265	10	0.66056	D	0.02	-0.5754	7.9625	0.30079	0.0:0.6174:0.2461:0.1365	.	606	Q6ZU52	K0408_HUMAN	Q	606	ENSP00000435150:E606Q	ENSP00000435150:E606Q	E	-	1	0	KIAA0408	127809341	1.000000	0.71417	0.629000	0.29254	0.998000	0.95712	1.083000	0.30815	-0.039000	0.13602	0.655000	0.94253	GAA		0.428	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		31	176	0	0	0	1	0	31	176				
ANO7	50636	broad.mit.edu	37	2	242163542	242163542	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:242163542C>T	ENST00000274979.8	+	25	2879	c.2776C>T	c.(2776-2778)Ccc>Tcc	p.P926S		NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	926					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTTCACGGTTCCCAAGGCCAG	0.647																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(2776-2778)Ccc>Tcc		anoctamin 7							66.0	55.0	59.0					2																	242163542		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242163542C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2776C>T	2.37:g.242163542C>T	ENSP00000274979:p.Pro926Ser						p.P926S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			25	2879	+			926					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.2776C>T	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	8.680	0.904881	0.17760	.	.	ENSG00000146205	ENST00000274979	T	0.71579	-0.58	1.7	0.747	0.18371	.	.	.	.	.	T	0.45776	0.1359	N	0.24115	0.695	0.09310	N	0.999995	B	0.24721	0.11	B	0.10450	0.005	T	0.32241	-0.9914	9	0.02654	T	1	.	5.7824	0.18314	0.0:0.6595:0.3405:0.0	.	926	Q6IWH7	ANO7_HUMAN	S	926	ENSP00000274979:P926S	ENSP00000274979:P926S	P	+	1	0	ANO7	241812215	0.014000	0.17966	0.003000	0.11579	0.076000	0.17211	1.957000	0.40392	0.239000	0.21243	0.313000	0.20887	CCC		0.647	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		11	79	0	0	0	1	0	11	79				
OR4K5	79317	broad.mit.edu	37	14	20389482	20389482	+	Silent	SNP	G	G	T	rs137857056		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr14:20389482G>T	ENST00000315915.4	+	1	742	c.717G>T	c.(715-717)acG>acT	p.T239T		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTTCTACGCTGGCTTCCC	0.413																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(715-717)acG>acT		olfactory receptor, family 4, subfamily K, member 5							252.0	266.0	261.0					14																	20389482		2203	4300	6503	SO:0001819	synonymous_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389482G>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.717G>T	14.37:g.20389482G>T							p.T239T	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	742	+	all_cancers(95;0.00108)		239					Q6IFA7	Silent	SNP	ENST00000315915.4	37	c.717G>T	CCDS32024.1																																																																																				0.413	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		25	154	1	0	6.32553e-13	1	6.78097e-13	25	154				
BRDT	676	broad.mit.edu	37	1	92447253	92447253	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:92447253C>G	ENST00000362005.3	+	13	2361	c.1943C>G	c.(1942-1944)tCa>tGa	p.S648*	BRDT_ENST00000399546.2_Nonsense_Mutation_p.S648*|BRDT_ENST00000402388.1_Nonsense_Mutation_p.S648*|BRDT_ENST00000370389.2_Nonsense_Mutation_p.S575*|BRDT_ENST00000394530.3_Nonsense_Mutation_p.S602*	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		agcagcTCATCAGAGTCTGAA	0.453																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1723-1725)tCa>tGa		bromodomain, testis-specific							73.0	71.0	72.0					1																	92447253		2203	4299	6502	SO:0001587	stop_gained	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447253C>G	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1943C>G	1.37:g.92447253C>G	ENSP00000354568:p.Ser648*					BRDT_ENST00000402388.1_Nonsense_Mutation_p.S648*|BRDT_ENST00000399546.2_Nonsense_Mutation_p.S648*|BRDT_ENST00000362005.3_Nonsense_Mutation_p.S648*|BRDT_ENST00000394530.3_Nonsense_Mutation_p.S602*	p.S575*	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2648	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Nonsense_Mutation	SNP	ENST00000362005.3	37	c.1724C>G	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	36	5.754714	0.96890	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	.	.	.	5.76	5.76	0.90799	.	1.380450	0.05270	N	0.517433	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.0418	20.3431	0.98773	0.0:1.0:0.0:0.0	.	.	.	.	X	648;575;648;602;648	.	ENSP00000354568:S648X	S	+	2	0	BRDT	92219841	0.983000	0.35010	0.044000	0.18714	0.249000	0.25844	3.563000	0.53784	2.880000	0.98712	0.650000	0.86243	TCA		0.453	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		23	46	0	0	0	1	0	23	46				
USP17L2	377630	broad.mit.edu	37	8	11995295	11995295	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:11995295G>A	ENST00000333796.3	-	1	1291	c.975C>T	c.(973-975)caC>caT	p.H325H	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	325	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCCACCCAGCGTGGACCAGCA	0.488																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(973-975)caC>caT		ubiquitin specific peptidase 17-like family member 2																																				SO:0001819	synonymous_variant	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995295G>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.975C>T	8.37:g.11995295G>A						FAM66D_ENST00000434078.2_RNA	p.H325H	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	1291	-			325						Silent	SNP	ENST00000333796.3	37	c.975C>T	CCDS43713.1																																																																																				0.488	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		6	101	0	0	0	1	0	6	101				
ATP8B4	79895	broad.mit.edu	37	15	50330967	50330967	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr15:50330967G>T	ENST00000284509.6	-	6	501	c.360C>A	c.(358-360)agC>agA	p.S120R	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S120R|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	120						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTCTTACTTGCTGTTGATGA	0.368																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(358-360)agC>agA		ATPase, class I, type 8B, member 4							131.0	114.0	119.0					15																	50330967		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50330967G>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.360C>A	15.37:g.50330967G>T	ENSP00000284509:p.Ser120Arg					ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.S120R	p.S120R	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	6	501	-		all_lung(180;0.00183)	120					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.360C>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258553	0.39896	.	.	ENSG00000104043	ENST00000284509	D	0.88354	-2.37	5.39	5.39	0.77823	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.358489	0.31279	N	0.007932	T	0.81861	0.4912	N	0.14661	0.345	0.36291	D	0.856414	B	0.02656	0.0	B	0.10450	0.005	T	0.80522	-0.1345	10	0.62326	D	0.03	.	17.0049	0.86390	0.0:0.0:1.0:0.0	.	120	Q8TF62	AT8B4_HUMAN	R	120	ENSP00000284509:S120R	ENSP00000284509:S120R	S	-	3	2	ATP8B4	48118259	1.000000	0.71417	0.994000	0.49952	0.919000	0.55068	1.908000	0.39907	2.690000	0.91761	0.655000	0.94253	AGC		0.368	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		9	49	1	0	1.76689e-08	1	1.87908e-08	9	49				
CCDC36	339834	broad.mit.edu	37	3	49293706	49293706	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:49293706G>A	ENST00000438782.1	+	8	1012	c.776G>A	c.(775-777)aGa>aAa	p.R259K	CCDC36_ENST00000296449.5_Missense_Mutation_p.R259K|CCDC36_ENST00000452691.2_Missense_Mutation_p.R259K			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	259										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		GAGCTGAAGAGATTGATCTCA	0.522																																						ENST00000438782.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14						c.(775-777)aGa>aAa		coiled-coil domain containing 36							80.0	76.0	77.0					3																	49293706		2203	4300	6503	SO:0001583	missense	339834							g.chr3:49293706G>A	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.776G>A	3.37:g.49293706G>A	ENSP00000391788:p.Arg259Lys					CCDC36_ENST00000296449.5_Missense_Mutation_p.R259K|CCDC36_ENST00000452691.2_Missense_Mutation_p.R259K	p.R259K			Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	8	1012	+			259					C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	c.776G>A	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973603	0.34848	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.13901	2.55;2.55;2.55	5.31	-3.69	0.04450	.	1.085870	0.07078	N	0.836549	T	0.06050	0.0157	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.44050	-0.9353	10	0.15499	T	0.54	0.0137	6.1441	0.20276	0.3904:0.3967:0.2128:0.0	.	259	Q8IYA8	CCD36_HUMAN	K	259;259;259;239	ENSP00000296449:R259K;ENSP00000391788:R259K;ENSP00000407837:R259K	ENSP00000296449:R259K	R	+	2	0	CCDC36	49268710	0.002000	0.14202	0.000000	0.03702	0.840000	0.47671	-0.069000	0.11542	-0.530000	0.06349	0.591000	0.81541	AGA		0.522	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		11	79	0	0	0	1	0	11	79				
P2RY8	286530	broad.mit.edu	37	X	1584402	1584402	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chrX:1584402G>A	ENST00000381297.4	-	2	1260	c.1050C>T	c.(1048-1050)ccC>ccT	p.P350P	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	350						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTGGAGGCCGGGCCTGGTGG	0.716			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	ENST00000381297.4				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(1048-1050)ccC>ccT		purinergic receptor P2Y, G-protein coupled, 8							37.0	45.0	42.0					X																	1584402		2200	4293	6493	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584402G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.1050C>T	X.37:g.1584402G>A							p.P350P	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	1260	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	350						Silent	SNP	ENST00000381297.4	37	c.1050C>T	CCDS14115.1																																																																																				0.716	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		16	93	0	0	0	1	0	16	93				
OR5M3	219482	broad.mit.edu	37	11	56237425	56237425	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:56237425G>A	ENST00000312240.2	-	1	589	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGGCCATTTTGATGAGAGGTG	0.403																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(547-549)atC>atT		olfactory receptor, family 5, subfamily M, member 3							130.0	118.0	122.0					11																	56237425		2201	4296	6497	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237425G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.549C>T	11.37:g.56237425G>A							p.I183I	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	589	-	Esophageal squamous(21;0.00448)		183					B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.549C>T	CCDS31532.1																																																																																				0.403	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		10	176	0	0	0	1	0	10	176				
ATP13A3	79572	broad.mit.edu	37	3	194171001	194171001	+	Silent	SNP	T	T	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:194171001T>G	ENST00000439040.1	-	11	1634	c.843A>C	c.(841-843)atA>atC	p.I281I	ATP13A3_ENST00000256031.4_Silent_p.I281I			Q9H7F0	AT133_HUMAN	ATPase type 13A3	281						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AGATTTCTTCTATTTCTGAAA	0.338																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(841-843)atA>atC		ATPase type 13A3							48.0	42.0	44.0					3																	194171001		1833	4080	5913	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194171001T>G	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.843A>C	3.37:g.194171001T>G						ATP13A3_ENST00000256031.4_Silent_p.I281I	p.I281I			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	11	1634	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	281					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.843A>C	CCDS43187.1																																																																																				0.338	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		5	28	0	0	0	1	0	5	28				
WDR60	55112	broad.mit.edu	37	7	158695177	158695177	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr7:158695177A>G	ENST00000407559.3	+	10	1406	c.1248A>G	c.(1246-1248)atA>atG	p.I416M		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	416					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAAGGAAATACAAGAAATTC	0.363																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(1246-1248)atA>atG		WD repeat domain 60							116.0	111.0	112.0					7																	158695177		1831	4086	5917	SO:0001583	missense	55112							g.chr7:158695177A>G		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1248A>G	7.37:g.158695177A>G	ENSP00000384290:p.Ile416Met						p.I416M	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	10	1406	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	416					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.1248A>G	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.947409	0.53186	.	.	ENSG00000126870	ENST00000407559	T	0.27104	1.69	4.68	-3.45	0.04781	.	0.057592	0.64402	D	0.000003	T	0.28466	0.0704	M	0.68317	2.08	0.39475	D	0.967794	P	0.52577	0.954	P	0.49226	0.603	T	0.16364	-1.0405	10	0.87932	D	0	-24.3179	8.0099	0.30347	0.239:0.5264:0.0:0.2346	.	416	Q8WVS4	WDR60_HUMAN	M	416	ENSP00000384290:I416M	ENSP00000384290:I416M	I	+	3	3	WDR60	158387938	0.939000	0.31865	0.859000	0.33776	0.762000	0.43233	-0.104000	0.10923	-0.802000	0.04421	0.459000	0.35465	ATA		0.363	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		18	55	0	0	0	1	0	18	55				
APEH	327	broad.mit.edu	37	3	49716303	49716303	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:49716303A>T	ENST00000296456.5	+	12	1479	c.1079A>T	c.(1078-1080)tAc>tTc	p.Y360F	APEH_ENST00000438011.1_Missense_Mutation_p.Y360F	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	360					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGGGATCTACTGCAGCCTT	0.567																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(1078-1080)tAc>tTc		acylaminoacyl-peptide hydrolase							107.0	99.0	102.0					3																	49716303		2203	4300	6503	SO:0001583	missense	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49716303A>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1079A>T	3.37:g.49716303A>T	ENSP00000296456:p.Tyr360Phe					APEH_ENST00000438011.1_Missense_Mutation_p.Y360F	p.Y360F	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	12	1479	+			360					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1079A>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097780	0.76870	.	.	ENSG00000164062	ENST00000296456;ENST00000442186;ENST00000438011	T;T;T	0.44083	0.93;1.03;0.93	5.62	5.62	0.85841	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	M	0.78637	2.42	0.58432	D	0.999998	B;B	0.31859	0.185;0.343	B;B	0.33620	0.144;0.167	T	0.41805	-0.9488	10	0.17832	T	0.49	-18.1207	15.4746	0.75468	1.0:0.0:0.0:0.0	.	360;360	C9JIF9;P13798	.;ACPH_HUMAN	F	360;285;360	ENSP00000296456:Y360F;ENSP00000402365:Y285F;ENSP00000415862:Y360F	ENSP00000296456:Y360F	Y	+	2	0	APEH	49691307	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.551000	0.67274	2.131000	0.65755	0.459000	0.35465	TAC		0.567	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			20	102	0	0	0	1	0	20	102				
DHX57	90957	broad.mit.edu	37	2	39025462	39025462	+	Silent	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:39025462C>T	ENST00000295373.6	-	24	4266	c.4140G>A	c.(4138-4140)gtG>gtA	p.V1380V		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1380							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TGACAAGTTTCACAATTGTGC	0.448																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(4138-4140)gtG>gtA		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							182.0	168.0	173.0					2																	39025462		2203	4300	6503	SO:0001819	synonymous_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39025462C>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.4140G>A	2.37:g.39025462C>T							p.V1380V	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			24	4266	-		all_hematologic(82;0.248)	1380					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	c.4140G>A	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	5.106	0.205142	0.09704	.	.	ENSG00000163214	ENST00000452978	.	.	.	5.42	1.5	0.22942	.	.	.	.	.	T	0.41880	0.1178	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26326	-1.0106	4	.	.	.	.	0.8349	0.01137	0.2433:0.355:0.1224:0.2793	.	.	.	.	K	659	.	.	E	-	1	0	DHX57	38878966	0.976000	0.34144	0.953000	0.39169	0.528000	0.34623	0.149000	0.16243	0.343000	0.23821	0.650000	0.86243	GAA		0.448	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		10	111	0	0	0	1	0	10	111				
NTRK3	4916	broad.mit.edu	37	15	88472443	88472443	+	Silent	SNP	G	G	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr15:88472443G>C	ENST00000360948.2	-	16	2273	c.2112C>G	c.(2110-2112)gtC>gtG	p.V704V	NTRK3_ENST00000394480.2_Silent_p.V704V|NTRK3_ENST00000357724.2_Silent_p.V696V|NTRK3_ENST00000557856.1_Silent_p.V696V|NTRK3_ENST00000558676.1_Silent_p.V696V|NTRK3_ENST00000542733.2_Silent_p.V606V|NTRK3_ENST00000355254.2_Silent_p.V704V	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	704	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCGTGCTGTAGACATCTCTGG	0.517			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(2110-2112)gtC>gtG		neurotrophic tyrosine kinase, receptor, type 3							111.0	105.0	107.0					15																	88472443		2201	4299	6500	SO:0001819	synonymous_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88472443G>C	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2112C>G	15.37:g.88472443G>C		TSP Lung(13;0.10)				NTRK3_ENST00000357724.2_Silent_p.V696V|NTRK3_ENST00000557856.1_Silent_p.V696V|NTRK3_ENST00000355254.2_Silent_p.V704V|NTRK3_ENST00000558676.1_Silent_p.V696V|NTRK3_ENST00000542733.2_Silent_p.V606V|NTRK3_ENST00000360948.2_Silent_p.V704V	p.V704V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		17	2433	-			704			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.2112C>G	CCDS32322.1																																																																																				0.517	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				21	101	0	0	0	1	0	21	101				
NDUFS8	4728	broad.mit.edu	37	11	67800624	67800624	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:67800624C>G	ENST00000313468.5	+	5	353	c.246C>G	c.(244-246)atC>atG	p.I82M	RP5-901A4.1_ENST00000532296.1_RNA|MIR4691_ENST00000583764.1_RNA|NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	82					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|lung(5)|skin(1)	8						CGGCCACCATCAACTACCCGT	0.682																																					Colon(116;1205 2770 20054)	ENST00000313468.5																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)	8						c.(244-246)atC>atG		NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						44.0	41.0	42.0					11																	67800624		2199	4292	6491	SO:0001583	missense	4728				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67800624C>G	U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7715	protein-coding gene	gene with protein product	"""complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"""	602141	"""NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"""			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331	ENST00000313468.5:c.246C>G	11.37:g.67800624C>G	ENSP00000315774:p.Ile82Met					NDUFS8_ENST00000528492.1_Intron	p.I82M	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN			5	353	+			82					B2RB86|Q0VDA8	Missense_Mutation	SNP	ENST00000313468.5	37	c.246C>G	CCDS8176.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642734	0.29246	.	.	ENSG00000110717	ENST00000313468;ENST00000453471;ENST00000526339;ENST00000525419;ENST00000525628	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	4.48	2.61	0.31194	Fumarate reductase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95818	0.8639	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.982	D;D;P	0.91635	0.998;0.999;0.872	D	0.94341	0.7570	10	0.87932	D	0	.	7.2001	0.25877	0.0:0.7214:0.0:0.2786	.	82;82;82	B4DYI3;E9PPW7;O00217	.;.;NDUS8_HUMAN	M	82;82;82;64;82	ENSP00000315774:I82M;ENSP00000403972:I82M;ENSP00000436287:I82M;ENSP00000433521:I64M;ENSP00000432968:I82M	ENSP00000315774:I82M	I	+	3	3	NDUFS8	67557200	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	1.476000	0.35420	0.516000	0.28340	0.655000	0.94253	ATC		0.682	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496		4	33	0	0	0	1	0	4	33				
PHEX	5251	broad.mit.edu	37	X	22117215	22117215	+	Missense_Mutation	SNP	G	G	A	rs376461141		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chrX:22117215G>A	ENST00000379374.4	+	9	1590	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	PHEX_ENST00000535894.1_Missense_Mutation_p.R245H|PHEX_ENST00000418858.3_Missense_Mutation_p.R45H|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.R342H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	342					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R342H(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GTGGTGGTCCGCGTCCCGCAG	0.448																																						ENST00000379374.4																			1	Substitution - Missense(1)	p.R342H(1)	large_intestine(1)	breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1024-1026)cGc>cAc		phosphate regulating endopeptidase homolog, X-linked		G	HIS/ARG	2,3833		0,2,1630,571	117.0	107.0	110.0		1025	5.5	0.9	X		110	0,6728		0,0,2428,1872	no	missense	PHEX	NM_000444.4	29	0,2,4058,2443	AA,AG,GG,G		0.0,0.0522,0.0189	probably-damaging	342/750	22117215	2,10561	2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22117215G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1025G>A	X.37:g.22117215G>A	ENSP00000368682:p.Arg342His					PHEX_ENST00000418858.3_Missense_Mutation_p.R45H|PHEX_ENST00000537599.1_Missense_Mutation_p.R342H|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Missense_Mutation_p.R245H	p.R342H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			9	1590	+			342					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1025G>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076035	0.76415	5.22E-4	0.0	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.46	5.46	0.80206	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	L	0.38531	1.155	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	P;D	0.64042	0.871;0.921	T	0.75889	-0.3158	10	0.24483	T	0.36	.	18.3838	0.90459	0.0:0.0:1.0:0.0	.	342;342	F5GXU4;P78562	.;PHEX_HUMAN	H	342;342;245;45	ENSP00000368682:R342H;ENSP00000440362:R342H;ENSP00000439418:R245H;ENSP00000443531:R45H	ENSP00000368682:R342H	R	+	2	0	PHEX	22027136	1.000000	0.71417	0.938000	0.37757	0.945000	0.59286	7.562000	0.82300	2.282000	0.76494	0.529000	0.55759	CGC		0.448	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		8	125	0	0	0	1	0	8	125				
ARHGAP4	393	broad.mit.edu	37	X	153178906	153178906	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chrX:153178906C>T	ENST00000350060.5	-	9	1324	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R407Q|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R405Q|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.R468Q|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R250Q	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	428					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGCGCCTCCGGCCCGCCTG	0.692																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1402-1404)cGg>cAg		Rho GTPase activating protein 4							41.0	49.0	46.0					X																	153178906		2191	4270	6461	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153178906C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1283G>A	X.37:g.153178906C>T	ENSP00000203786:p.Arg428Gln					ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R405Q|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R407Q|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R428Q|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R250Q	p.R468Q	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			10	1460	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		428					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.1403G>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071508	0.76301	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000422918	T;T;T;T;T;T	0.54866	0.62;0.62;0.62;0.62;0.62;0.55	5.2	5.2	0.72013	.	0.000000	0.37053	N	0.002268	T	0.38081	0.1027	L	0.31752	0.955	0.38263	D	0.94194	P;P	0.51537	0.944;0.946	B;B	0.40009	0.316;0.316	T	0.40979	-0.9534	10	0.40728	T	0.16	.	10.235	0.43277	0.0:0.9046:0.0:0.0954	.	468;428	Q86UY3;P98171	.;RHG04_HUMAN	Q	250;468;428;407;405;175	ENSP00000377322:R250Q;ENSP00000359045:R468Q;ENSP00000203786:R428Q;ENSP00000359033:R407Q;ENSP00000444169:R405Q;ENSP00000398019:R175Q	ENSP00000203786:R428Q	R	-	2	0	ARHGAP4	152832100	0.945000	0.32115	0.541000	0.28102	0.591000	0.36615	2.058000	0.41374	2.145000	0.66743	0.509000	0.49947	CGG		0.692	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		6	99	0	0	0	1	0	6	99				
BUB1	699	broad.mit.edu	37	2	111419371	111419371	+	Silent	SNP	C	C	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:111419371C>G	ENST00000302759.6	-	10	1123	c.1005G>C	c.(1003-1005)ctG>ctC	p.L335L	BUB1_ENST00000535254.1_Silent_p.L315L|BUB1_ENST00000409311.1_Silent_p.L335L	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	335					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)		ATGGCGCTCTCAGTTCCTGCT	0.453																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(943-945)ctG>ctC		BUB1 mitotic checkpoint serine/threonine kinase							131.0	126.0	127.0					2																	111419371		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:111419371C>G	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.1005G>C	2.37:g.111419371C>G						BUB1_ENST00000302759.6_Silent_p.L335L|BUB1_ENST00000409311.1_Silent_p.L335L	p.L315L	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	9	1012	-		Ovarian(717;0.0822)	335					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.945G>C	CCDS33273.1																																																																																				0.453	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		14	116	0	0	0	1	0	14	116				
ARNT	405	broad.mit.edu	37	1	150807017	150807017	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:150807017A>T	ENST00000358595.5	-	8	1000	c.800T>A	c.(799-801)aTg>aAg	p.M267K	ARNT_ENST00000354396.2_Missense_Mutation_p.M267K|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000505755.1_Missense_Mutation_p.M252K|ARNT_ENST00000515192.1_Missense_Mutation_p.M258K	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	267					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTCACCTCATTCGGCAAAT	0.438			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(799-801)aTg>aAg		aryl hydrocarbon receptor nuclear translocator							168.0	144.0	152.0					1																	150807017		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150807017A>T	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.800T>A	1.37:g.150807017A>T	ENSP00000351407:p.Met267Lys					ARNT_ENST00000515192.1_Missense_Mutation_p.M258K|ARNT_ENST00000505755.1_Missense_Mutation_p.M252K|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.M267K	p.M267K	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	1000	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		267					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.800T>A	CCDS970.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.930672	0.92389	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.61	5.61	0.85477	PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.54175	0.1842	H	0.95950	3.745	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.996;0.995;0.999;0.995;0.991;0.968;0.996	D;D;D;D;P;P;D	0.87578	0.993;0.972;0.998;0.948;0.908;0.856;0.993	T	0.71371	-0.4613	10	0.87932	D	0	.	15.8039	0.78477	1.0:0.0:0.0:0.0	.	251;267;252;267;258;252;267	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	K	267;267;267;258;251;252	ENSP00000351407:M267K;ENSP00000346372:M267K;ENSP00000423851:M258K;ENSP00000427571:M252K	ENSP00000346372:M267K	M	-	2	0	ARNT	149073641	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.929000	0.92859	2.135000	0.66039	0.383000	0.25322	ATG		0.438	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			7	102	0	0	0	1	0	7	102				
INF2	64423	broad.mit.edu	37	14	105174314	105174314	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr14:105174314G>A	ENST00000392634.4	+	8	1822	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	INF2_ENST00000330634.7_Silent_p.Q570Q	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	570	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGAACTGGCAGAAGCTGCCAT	0.652																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1708-1710)caG>caA		inverted formin, FH2 and WH2 domain containing							41.0	45.0	44.0					14																	105174314		2114	4207	6321	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174314G>A	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1710G>A	14.37:g.105174314G>A						INF2_ENST00000330634.7_Silent_p.Q570Q	p.Q570Q	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1822	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	570			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.1710G>A	CCDS9989.2																																																																																				0.652	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		10	55	0	0	0	1	0	10	55				
MYH14	79784	broad.mit.edu	37	19	50781460	50781460	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr19:50781460G>C	ENST00000596571.1	+	27	3823	c.3823G>C	c.(3823-3825)Gag>Cag	p.E1275Q	MYH14_ENST00000425460.1_Missense_Mutation_p.E1283Q|MYH14_ENST00000440075.2_Missense_Mutation_p.E1316Q|MYH14_ENST00000376970.2_Missense_Mutation_p.E1308Q|MYH14_ENST00000601313.1_Missense_Mutation_p.E1316Q|MYH14_ENST00000598205.1_Missense_Mutation_p.E1283Q|MYH14_ENST00000262269.8_Missense_Mutation_p.E1316Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1275					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCCGCCTGGAGTTACAGCT	0.697																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(3946-3948)Gag>Cag		myosin, heavy chain 14, non-muscle							19.0	25.0	23.0					19																	50781460		2059	4180	6239	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50781460G>C	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3823G>C	19.37:g.50781460G>C	ENSP00000472819:p.Glu1275Gln					MYH14_ENST00000598205.1_Missense_Mutation_p.E1283Q|MYH14_ENST00000596571.1_Missense_Mutation_p.E1275Q|MYH14_ENST00000425460.1_Missense_Mutation_p.E1283Q|MYH14_ENST00000376970.2_Missense_Mutation_p.E1308Q|MYH14_ENST00000601313.1_Missense_Mutation_p.E1316Q|MYH14_ENST00000262269.8_Missense_Mutation_p.E1316Q	p.E1316Q			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	30	3993	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1275					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.3946G>C	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521084	0.85495	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	3.78	3.78	0.43462	Myosin tail (1);	.	.	.	.	D	0.90188	0.6933	M	0.77616	2.38	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	D	0.91427	0.5163	9	0.87932	D	0	.	13.5282	0.61607	0.0:0.0:1.0:0.0	.	1316;1275;1283	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Q	1275;1316;1308;1283;1275;1316	ENSP00000406273:E1316Q;ENSP00000366169:E1308Q;ENSP00000407879:E1283Q;ENSP00000262269:E1316Q	ENSP00000262269:E1316Q	E	+	1	0	MYH14	55473272	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.140000	0.94607	2.149000	0.67028	0.462000	0.41574	GAG		0.697	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		6	17	0	0	0	1	0	6	17				
LILRB5	10990	broad.mit.edu	37	19	54755938	54755938	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr19:54755938G>A	ENST00000316219.5	-	12	1712	c.1605C>T	c.(1603-1605)gaC>gaT	p.D535D	CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000449561.2_Silent_p.D536D|LILRB5_ENST00000345866.6_Silent_p.D436D|LILRB5_ENST00000450632.1_Silent_p.D527D	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	535					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTCCACCCCGTCCTTGGGCT	0.622																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1579-1581)gaC>gaT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							117.0	116.0	116.0					19																	54755938		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54755938G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1605C>T	19.37:g.54755938G>A						LILRB5_ENST00000449561.2_Silent_p.D536D|LILRB5_ENST00000316219.5_Silent_p.D535D|LILRB5_ENST00000345866.6_Silent_p.D436D	p.D527D			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	12	1658	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		535					Q8N760	Silent	SNP	ENST00000316219.5	37	c.1581C>T	CCDS12885.1																																																																																				0.622	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			55	127	0	0	0	1	0	55	127				
ASXL1	171023	broad.mit.edu	37	20	31022345	31022345	+	Silent	SNP	C	C	T	rs199829982		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr20:31022345C>T	ENST00000375687.4	+	13	2254	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_ENST00000306058.5_Silent_p.G605G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	610	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q592fs*5(1)|p.G610G(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.Q592fs*5(1)|p.G610G(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1828-1830)ggC>ggT		additional sex combs like 1 (Drosophila)		C		1,4405		0,1,2202	29.0	31.0	30.0		1830	-10.8	0.5	20		30	1,8599		0,1,4299	no	coding-synonymous	ASXL1	NM_015338.5		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		610/1542	31022345	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022345C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1830C>T	20.37:g.31022345C>T						ASXL1_ENST00000306058.5_Silent_p.G605G	p.G610G	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2254	+			610					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.1830C>T	CCDS13201.1																																																																																				0.632	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		4	48	0	0	0	1	0	4	48				
CCDC91	55297	broad.mit.edu	37	12	28702043	28702043	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr12:28702043C>G	ENST00000545336.1	+	16	1682	c.1263C>G	c.(1261-1263)ttC>ttG	p.F421L	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Missense_Mutation_p.F421L|CCDC91_ENST00000306172.5_Missense_Mutation_p.F391L|CCDC91_ENST00000381256.1_Missense_Mutation_p.F385L|CCDC91_ENST00000539107.1_Missense_Mutation_p.F385L			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	421					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TGGAACTGTTCCTCTCCTGTG	0.378																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(1261-1263)ttC>ttG		coiled-coil domain containing 91							153.0	151.0	151.0					12																	28702043		2203	4300	6503	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28702043C>G	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.1263C>G	12.37:g.28702043C>G	ENSP00000438040:p.Phe421Leu					CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Missense_Mutation_p.F385L|CCDC91_ENST00000306172.5_Missense_Mutation_p.F391L|CCDC91_ENST00000381259.1_Missense_Mutation_p.F421L|CCDC91_ENST00000381256.1_Missense_Mutation_p.F385L	p.F421L			Q7Z6B0	CCD91_HUMAN			16	1682	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		421					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.1263C>G	CCDS8716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.050203|4.050203	0.75846|0.75846	.|.	.|.	ENSG00000123106|ENSG00000123106	ENST00000539107;ENST00000545336;ENST00000381259;ENST00000381256;ENST00000306172;ENST00000542814;ENST00000541792|ENST00000542801;ENST00000543019	T;T;T;T;T|.	0.55588|.	1.11;0.6;0.6;1.11;0.51|.	5.84|5.84	3.7|3.7	0.42460|0.42460	.|.	0.194399|.	0.36893|.	N|.	0.002341|.	T|T	0.32941|0.32941	0.0846|0.0846	N|N	0.24115|0.24115	0.695|0.695	0.29053|0.29053	N|N	0.884357|0.884357	B;B;B|.	0.33940|.	0.143;0.433;0.229|.	B;B;B|.	0.34301|.	0.046;0.179;0.128|.	T|T	0.21655|0.21655	-1.0239|-1.0239	10|5	0.51188|.	T|.	0.08|.	-10.326|-10.326	10.9517|10.9517	0.47334|0.47334	0.0:0.8297:0.0:0.1703|0.0:0.8297:0.0:0.1703	.|.	385;421;391|.	Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2|.	.;CCD91_HUMAN;.|.	L|C	385;421;421;385;391;16;16|92;16	ENSP00000440513:F385L;ENSP00000438040:F421L;ENSP00000370658:F421L;ENSP00000370655:F385L;ENSP00000305075:F391L|.	ENSP00000305075:F391L|.	F|S	+|+	3|2	2|0	CCDC91|CCDC91	28593310|28593310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.852000|1.852000	0.39348|0.39348	1.492000|1.492000	0.48499|0.48499	0.655000|0.655000	0.94253|0.94253	TTC|TCC		0.378	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		18	139	0	0	0	1	0	18	139				
NDST3	9348	broad.mit.edu	37	4	119161817	119161817	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr4:119161817G>A	ENST00000296499.5	+	11	2660	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	753	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CAGCCACATCGAGAGATGGCT	0.473																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(2257-2259)Gag>Aag		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							83.0	77.0	79.0					4																	119161817		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119161817G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2257G>A	4.37:g.119161817G>A	ENSP00000296499:p.Glu753Lys						p.E753K	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			11	2660	+			753			Heparan sulfate N-sulfotransferase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.2257G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712170	0.89112	.	.	ENSG00000164100	ENST00000296499	T	0.54675	0.56	5.49	5.49	0.81192	Sulfotransferase domain (1);	0.053430	0.64402	D	0.000001	T	0.50051	0.1593	L	0.59967	1.855	0.80722	D	1	P	0.40638	0.725	B	0.32022	0.139	T	0.58482	-0.7629	10	0.66056	D	0.02	.	19.7445	0.96247	0.0:0.0:1.0:0.0	.	753	O95803	NDST3_HUMAN	K	753	ENSP00000296499:E753K	ENSP00000296499:E753K	E	+	1	0	NDST3	119381265	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.227000	0.95236	2.739000	0.93911	0.655000	0.94253	GAG		0.473	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		6	51	0	0	0	1	0	6	51				
AGO4	192670	broad.mit.edu	37	1	36315806	36315806	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:36315806A>G	ENST00000373210.3	+	16	2469	c.2224A>G	c.(2224-2226)Atc>Gtc	p.I742V	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	742	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										GGATAGTACCATCACACATCC	0.398																																						ENST00000373210.3																			0											c.(2224-2226)Atc>Gtc		argonaute RISC catalytic component 4							208.0	181.0	190.0					1																	36315806		2203	4300	6503	SO:0001583	missense	192670							g.chr1:36315806A>G	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2224A>G	1.37:g.36315806A>G	ENSP00000362306:p.Ile742Val					AGO4_ENST00000488778.1_3'UTR	p.I742V	NM_017629.3	NP_060099.2					16	2469	+								A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.2224A>G	CCDS397.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.466984	0.43839	.	.	ENSG00000134698	ENST00000373210	T	0.30182	1.54	4.82	3.64	0.41730	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.145257	0.64402	N	0.000011	T	0.29976	0.0750	L	0.58101	1.795	0.49915	D	0.999832	B	0.17852	0.024	B	0.25506	0.061	T	0.05419	-1.0886	10	0.27785	T	0.31	-2.4605	10.866	0.46856	0.9237:0.0:0.0763:0.0	.	742	Q9HCK5	AGO4_HUMAN	V	742	ENSP00000362306:I742V	ENSP00000362306:I742V	I	+	1	0	EIF2C4	36088393	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.420000	0.80191	0.735000	0.32537	0.482000	0.46254	ATC		0.398	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		11	106	0	0	0	1	0	11	106				
ENPP2	5168	broad.mit.edu	37	8	120650707	120650707	+	Missense_Mutation	SNP	G	G	C	rs138726849		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:120650707G>C	ENST00000075322.6	-	2	152	c.94C>G	c.(94-96)Cga>Gga	p.R32G	ENPP2_ENST00000522826.1_Missense_Mutation_p.R32G|ENPP2_ENST00000427067.2_Missense_Mutation_p.R28G|ENPP2_ENST00000259486.6_Missense_Mutation_p.R32G	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	32					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTCTTAATTCGATGTGCAGTG	0.373																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(82-84)Cga>Gga		ectonucleotide pyrophosphatase/phosphodiesterase 2		G	GLY/ARG,GLY/ARG,GLY/ARG	0,4406		0,0,2203	144.0	145.0	144.0		94,94,94	4.3	1.0	8	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	125,125,125	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	32/864,32/889,32/916	120650707	1,13005	2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120650707G>C	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.94C>G	8.37:g.120650707G>C	ENSP00000075322:p.Arg32Gly					ENPP2_ENST00000075322.6_Missense_Mutation_p.R32G|ENPP2_ENST00000259486.6_Missense_Mutation_p.R32G|ENPP2_ENST00000522826.1_Missense_Mutation_p.R32G	p.R28G			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		2	262	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		32					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.82C>G	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711629	0.48517	0.0	1.16E-4	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;D	0.81996	-1.0;-0.89;-0.9;-0.92;-1.56	6.17	4.35	0.52113	.	0.274240	0.35320	N	0.003285	D	0.83317	0.5228	N	0.19112	0.55	0.53005	D	0.999964	D;P;D	0.64830	0.976;0.935;0.994	P;B;P	0.59115	0.575;0.386;0.852	D	0.84731	0.0745	10	0.87932	D	0	.	17.1113	0.86675	0.0:0.0:0.7502:0.2497	.	32;32;32	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	G	32;28;32;32;32	ENSP00000259486:R32G;ENSP00000403315:R28G;ENSP00000428291:R32G;ENSP00000075322:R32G;ENSP00000428304:R32G	ENSP00000075322:R32G	R	-	1	2	ENPP2	120719888	1.000000	0.71417	0.998000	0.56505	0.392000	0.30506	3.749000	0.55150	0.453000	0.26858	-0.808000	0.03180	CGA		0.373	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			22	125	0	0	0	1	0	22	125				
TTN	7273	broad.mit.edu	37	2	179546391	179546391	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:179546391T>C	ENST00000591111.1	-	134	32442	c.32218A>G	c.(32218-32220)Aaa>Gaa	p.K10740E	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K11057E|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K9813E|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11701	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTACCTTTAGCCGGTGGG	0.388																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(33169-33171)Aaa>Gaa		titin							127.0	123.0	125.0					2																	179546391		1818	4081	5899	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179546391T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32218A>G	2.37:g.179546391T>C	ENSP00000465570:p.Lys10740Glu					TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K9813E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K10740E|TTN-AS1_ENST00000589830.1_RNA	p.K11057E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		136	33393	-			10740			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.33169A>G		.	.	.	.	.	.	.	.	.	.	T	6.058	0.378983	0.11466	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.74737	-0.87;-0.4	5.62	4.46	0.54185	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.61540	0.2355	N	0.24115	0.695	0.80722	D	1	B;B	0.24043	0.001;0.096	B;B	0.25614	0.003;0.062	T	0.60078	-0.7333	9	0.87932	D	0	.	10.5741	0.45217	0.0:0.0732:0.0:0.9268	.	10740;10476	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	E	9813;671	ENSP00000343764:K9813E;ENSP00000401501:K671E	ENSP00000343764:K9813E	K	-	1	0	TTN	179254636	0.997000	0.39634	0.835000	0.33067	0.002000	0.02628	3.258000	0.51507	1.070000	0.40811	-0.297000	0.09499	AAA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	50	0	0	0	1	0	6	50				
C5orf55	116349	broad.mit.edu	37	5	442703	442703	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr5:442703G>C	ENST00000408966.2	-	1	555	c.235C>G	c.(235-237)Cgt>Ggt	p.R79G	EXOC3_ENST00000512944.1_5'Flank	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	79						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3						TTGTTCCCACGAGGGTGCCAA	0.612																																						ENST00000408966.2																			0				large_intestine(1)|lung(2)	3						c.(235-237)Cgt>Ggt		chromosome 5 open reading frame 55							98.0	107.0	104.0					5																	442703		1950	4148	6098	SO:0001583	missense	116349					extracellular region		g.chr5:442703G>C	BC014011	CCDS43298.1	5p15.33	2012-02-24			ENSG00000221990	ENSG00000221990			25175	protein-coding gene	gene with protein product						12477932	Standard	NM_138464		Approved		uc010ita.3	Q8N2X6	OTTHUMG00000162235	ENST00000408966.2:c.235C>G	5.37:g.442703G>C	ENSP00000386139:p.Arg79Gly						p.R79G	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN			1	555	-			79					Q96CR9	Missense_Mutation	SNP	ENST00000408966.2	37	c.235C>G	CCDS43298.1	.	.	.	.	.	.	.	.	.	.	G	2.093	-0.407914	0.04832	.	.	ENSG00000221990	ENST00000408966	T	0.39787	1.06	0.849	-1.7	0.08159	.	.	.	.	.	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	P	0.40032	0.699	B	0.36504	0.226	T	0.11108	-1.0601	9	0.87932	D	0	.	0.1559	0.00098	0.2418:0.2502:0.2574:0.2506	.	79	Q8N2X6	CE055_HUMAN	G	79	ENSP00000386139:R79G	ENSP00000386139:R79G	R	-	1	0	C5orf55	495703	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.671000	0.05250	-1.665000	0.01477	0.205000	0.17691	CGT		0.612	C5orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368033.1	NM_138464		56	176	0	0	0	1	0	56	176				
SERPINB1	1992	broad.mit.edu	37	6	2833940	2833940	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:2833940G>A	ENST00000380739.5	-	7	1244	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	SERPINB1_ENST00000537185.1_Missense_Mutation_p.P197S|SERPINB1_ENST00000476896.1_5'Flank	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	348					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TTTTCTTCGGGCATCAACATG	0.443																																						ENST00000380739.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13						c.(1042-1044)Ccc>Tcc		serpin peptidase inhibitor, clade B (ovalbumin), member 1							63.0	65.0	64.0					6																	2833940		2203	4300	6503	SO:0001583	missense	1992				regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity	g.chr6:2833940G>A	M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.1042C>T	6.37:g.2833940G>A	ENSP00000370115:p.Pro348Ser					SERPINB1_ENST00000537185.1_Missense_Mutation_p.P197S	p.P348S			P30740	ILEU_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0717)	7	1244	-	Ovarian(93;0.0412)		348					A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	ENST00000380739.5	37	c.1042C>T	CCDS4477.1	.	.	.	.	.	.	.	.	.	.	G	7.287	0.610299	0.14066	.	.	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	D;D	0.83419	-1.72;-1.72	5.57	3.74	0.42951	Serpin domain (3);	1.027660	0.07707	N	0.941464	T	0.59542	0.2201	L	0.41906	1.305	0.09310	N	1	B	0.18013	0.025	B	0.20384	0.029	T	0.50600	-0.8809	10	0.20519	T	0.43	.	9.3684	0.38239	0.0:0.1573:0.6791:0.1636	.	348	P30740	ILEU_HUMAN	S	348;310;197	ENSP00000370115:P348S;ENSP00000444543:P197S	ENSP00000370115:P348S	P	-	1	0	SERPINB1	2778939	0.005000	0.15991	0.003000	0.11579	0.009000	0.06853	1.429000	0.34903	0.798000	0.33994	0.650000	0.86243	CCC		0.443	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			8	46	0	0	0	1	0	8	46				
LAMA2	3908	broad.mit.edu	37	6	129691085	129691085	+	Missense_Mutation	SNP	G	G	C	rs138303386		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:129691085G>C	ENST00000421865.2	+	34	4958	c.4909G>C	c.(4909-4911)Gag>Cag	p.E1637Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1637	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.E1637K(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAGCTGGCAGAGGGCAATCT	0.448																																						ENST00000421865.2																			1	Substitution - Missense(1)	p.E1637K(1)	endometrium(1)	NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4909-4911)Gag>Cag		laminin, alpha 2							81.0	84.0	83.0					6																	129691085		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129691085G>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4909G>C	6.37:g.129691085G>C	ENSP00000400365:p.Glu1637Gln						p.E1637Q	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	34	4958	+			1637			Domain II and I.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4909G>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501278	0.44455	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.16196	2.36	5.98	5.98	0.97165	Laminin I (1);	0.108387	0.64402	D	0.000007	T	0.05686	0.0149	N	0.17082	0.46	0.34232	D	0.676612	B;B	0.18310	0.013;0.027	B;B	0.17098	0.017;0.016	T	0.19224	-1.0312	10	0.40728	T	0.16	.	14.5778	0.68262	0.0:0.2528:0.7472:0.0	.	1637;1637	A6NF00;P24043	.;LAMA2_HUMAN	Q	1637	ENSP00000400365:E1637Q	ENSP00000346769:E1637Q	E	+	1	0	LAMA2	129732778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.153000	0.58118	2.838000	0.97847	0.655000	0.94253	GAG		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			11	73	0	0	0	1	0	11	73				
EGFR	1956	broad.mit.edu	37	7	55229200	55229200	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr7:55229200G>A	ENST00000275493.2	+	13	1684	c.1507G>A	c.(1507-1509)Ggc>Agc	p.G503S	EGFR_ENST00000344576.2_Missense_Mutation_p.G503S|EGFR_ENST00000342916.3_Missense_Mutation_p.G503S|EGFR_ENST00000454757.2_Missense_Mutation_p.G450S|EGFR_ENST00000455089.1_Missense_Mutation_p.G458S|EGFR_ENST00000442591.1_Missense_Mutation_p.G503S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	503					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGAGGCCACAGGCCAGGTCTG	0.692		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1507-1509)Ggc>Agc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						59.0	62.0	61.0					7																	55229200		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55229200G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1507G>A	7.37:g.55229200G>A	ENSP00000275493:p.Gly503Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000342916.3_Missense_Mutation_p.G503S|EGFR_ENST00000455089.1_Missense_Mutation_p.G458S|EGFR_ENST00000442591.1_Missense_Mutation_p.G503S|EGFR_ENST00000344576.2_Missense_Mutation_p.G503S|EGFR_ENST00000454757.2_Missense_Mutation_p.G450S	p.G503S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		13	1684	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		503					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1507G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696006	0.48202	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	6.07	3.29	0.37713	.	0.407124	0.32563	N	0.005936	T	0.46560	0.1399	M	0.75447	2.3	0.09310	N	1	B;B;B;B	0.32338	0.365;0.323;0.154;0.079	B;B;B;B	0.39094	0.147;0.29;0.095;0.222	T	0.46456	-0.9190	10	0.72032	D	0.01	.	9.2366	0.37470	0.2991:0.0:0.7009:0.0	.	458;503;503;503	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	S	458;503;373;503;503;503;450;297	ENSP00000415559:G458S;ENSP00000342376:G503S;ENSP00000345973:G503S;ENSP00000275493:G503S;ENSP00000410031:G503S;ENSP00000395243:G450S	ENSP00000275493:G503S	G	+	1	0	EGFR	55196694	0.017000	0.18338	0.007000	0.13788	0.012000	0.07955	1.339000	0.33885	0.443000	0.26582	-0.140000	0.14226	GGC		0.692	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		17	90	0	0	0	1	0	17	90				
AOX1	316	broad.mit.edu	37	2	201507423	201507423	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:201507423T>C	ENST00000374700.2	+	25	2987	c.2746T>C	c.(2746-2748)Tcc>Ccc	p.S916P	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	916					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAACCTTCCATCCAACACAGC	0.493																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(2746-2748)Tcc>Ccc		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						90.0	84.0	86.0					2																	201507423		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201507423T>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2746T>C	2.37:g.201507423T>C	ENSP00000363832:p.Ser916Pro					AOX1_ENST00000485106.1_3'UTR	p.S916P	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			25	2987	+			916					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.2746T>C	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846853	0.71603	.	.	ENSG00000138356	ENST00000374700	T	0.36878	1.23	5.17	4.02	0.46733	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.108518	0.64402	D	0.000004	T	0.58566	0.2131	M	0.85197	2.74	0.80722	D	1	D	0.55172	0.97	D	0.70016	0.967	T	0.60782	-0.7195	10	0.87932	D	0	-28.9825	6.7683	0.23579	0.135:0.0737:0.0:0.7913	.	916	Q06278	ADO_HUMAN	P	916	ENSP00000363832:S916P	ENSP00000363832:S916P	S	+	1	0	AOX1	201215668	0.999000	0.42202	0.990000	0.47175	0.741000	0.42261	3.185000	0.50934	0.997000	0.38969	0.448000	0.29417	TCC		0.493	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		11	73	0	0	0	1	0	11	73				
ZMYM4	9202	broad.mit.edu	37	1	35836031	35836031	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:35836031G>T	ENST00000314607.6	+	7	1064	c.984G>T	c.(982-984)atG>atT	p.M328I	ZMYM4_ENST00000373297.2_Missense_Mutation_p.M328I|ZMYM4_ENST00000482131.1_3'UTR	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	328					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAATAAAATGCTTCCTTCAG	0.393																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(982-984)atG>atT		zinc finger, MYM-type 4							42.0	45.0	44.0					1																	35836031		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35836031G>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.984G>T	1.37:g.35836031G>T	ENSP00000322915:p.Met328Ile					ZMYM4_ENST00000482131.1_3'UTR|ZMYM4_ENST00000373297.2_Missense_Mutation_p.M328I	p.M328I	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			7	1064	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	328					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.984G>T	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.66|11.66	1.704309|1.704309	0.30232|0.30232	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000457946|ENST00000314607;ENST00000373297	.|T;T	.|0.41065	.|1.01;1.01	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.168224	.|0.52532	.|D	.|0.000064	T|T	0.33760|0.33760	0.0874|0.0874	L|L	0.39898|0.39898	1.24|1.24	0.20873|0.20873	N|N	0.999836|0.999836	.|B	.|0.12630	.|0.006	.|B	.|0.17098	.|0.017	T|T	0.14062|0.14062	-1.0486|-1.0486	5|10	.|0.13470	.|T	.|0.59	-11.0011|-11.0011	14.3252|14.3252	0.66515|0.66515	0.0:0.0:0.8517:0.1483|0.0:0.0:0.8517:0.1483	.|.	.|328	.|Q5VZL5	.|ZMYM4_HUMAN	S|I	77|328	.|ENSP00000322915:M328I;ENSP00000362394:M328I	.|ENSP00000322915:M328I	A|M	+|+	1|3	0|0	ZMYM4|ZMYM4	35608618|35608618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.048000|4.048000	0.57390|0.57390	2.613000|2.613000	0.88420|0.88420	0.591000|0.591000	0.81541|0.81541	GCT|ATG		0.393	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		7	74	1	0	8.12818e-05	1	8.31433e-05	7	74				
KRT85	3891	broad.mit.edu	37	12	52760958	52760958	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr12:52760958G>A	ENST00000257901.3	-	1	307	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	78	Head.		R -> H (in ECTD4; dbSNP:rs61630004). {ECO:0000269|PubMed:16525032}.		epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGAAGCTGCGTCCGCAGGAG	0.697																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(232-234)Cgc>Tgc		keratin 85							29.0	36.0	34.0					12																	52760958		2196	4294	6490	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52760958G>A	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.232C>T	12.37:g.52760958G>A	ENSP00000257901:p.Arg78Cys						p.R78C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	307	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		78		R -> H (in EDPHN; dbSNP:rs61630004).	Head.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.232C>T	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	G	9.452	1.090845	0.20471	.	.	ENSG00000135443	ENST00000257901	T	0.75704	-0.96	4.18	3.28	0.37604	.	0.225722	0.31976	N	0.006773	T	0.75459	0.3852	M	0.71036	2.16	0.09310	N	0.999996	D	0.69078	0.997	P	0.55260	0.772	T	0.65751	-0.6092	10	0.38643	T	0.18	.	2.692	0.05123	0.2112:0.0:0.5297:0.2591	.	78	P78386	KRT85_HUMAN	C	78	ENSP00000257901:R78C	ENSP00000257901:R78C	R	-	1	0	KRT85	51047225	0.839000	0.29477	0.944000	0.38274	0.007000	0.05969	1.864000	0.39469	1.331000	0.45412	-0.314000	0.08810	CGC		0.697	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		8	89	0	0	0	1	0	8	89				
LOC645752	645752	broad.mit.edu	37	15	78212571	78212571	+	lincRNA	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr15:78212571G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCTGTGTCACGTGTGCGTTCA	0.572																																						ENST00000565869.1																			0																																																			645752							g.chr15:78212571G>A																													15.37:g.78212571G>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.572	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	44	0	0	0	1	0	6	44				
TNR	7143	broad.mit.edu	37	1	175355319	175355319	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:175355319G>A	ENST00000367674.2	-	8	2334	c.1626C>T	c.(1624-1626)ggC>ggT	p.G542G	TNR_ENST00000263525.2_Silent_p.G542G			Q92752	TENR_HUMAN	tenascin R	542	Fibronectin type-III 3. {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)					CACCTTCCCCGCCCACCAGGC	0.587																																						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.(1624-1626)ggC>ggT		tenascin R							32.0	35.0	34.0					1																	175355319		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175355319G>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.1626C>T	1.37:g.175355319G>A						TNR_ENST00000263525.2_Silent_p.G542G	p.G542G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			8	2334	-	Renal(580;0.146)		542			Fibronectin type-III 3.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.1626C>T	CCDS1318.1																																																																																				0.587	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		28	45	0	0	0	1	0	28	45				
GABRR1	2569	broad.mit.edu	37	6	89888658	89888658	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:89888658A>G	ENST00000454853.2	-	10	1381	c.1271T>C	c.(1270-1272)aTg>aCg	p.M424T	GABRR1_ENST00000435811.1_Missense_Mutation_p.M407T|GABRR1_ENST00000369451.3_Missense_Mutation_p.M337T	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	424				MV -> VM (in Ref. 2; BAG61047). {ECO:0000305}.	gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CAGCTGCACCATCATCCTGTC	0.557																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(1219-1221)aTg>aCg		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						191.0	173.0	179.0					6																	89888658		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89888658A>G		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1271T>C	6.37:g.89888658A>G	ENSP00000412673:p.Met424Thr					GABRR1_ENST00000454853.2_Missense_Mutation_p.M424T|GABRR1_ENST00000369451.3_Missense_Mutation_p.M337T	p.M407T	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	9	1674	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	424					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.1220T>C	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	A	8.693	0.907803	0.17833	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.83075	-1.68;-1.68;-1.68	5.65	4.5	0.54988	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.090855	0.85682	N	0.000000	T	0.65176	0.2666	L	0.48642	1.525	0.43377	D	0.995471	B;B	0.21309	0.054;0.001	B;B	0.25506	0.061;0.017	T	0.61113	-0.7128	9	.	.	.	-34.6194	11.3	0.49300	0.9291:0.0:0.0709:0.0	.	407;424	P24046-2;P24046	.;GBRR1_HUMAN	T	424;407;337;337	ENSP00000412673:M424T;ENSP00000394687:M407T;ENSP00000358463:M337T	.	M	-	2	0	GABRR1	89945377	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.381000	0.73163	0.974000	0.38366	0.533000	0.62120	ATG		0.557	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			18	113	0	0	0	1	0	18	113				
TTN	7273	broad.mit.edu	37	2	179455600	179455600	+	Silent	SNP	A	A	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:179455600A>G	ENST00000591111.1	-	254	56153	c.55929T>C	c.(55927-55929)acT>acC	p.T18643T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.T11344T|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.T20284T|TTN_ENST00000342992.6_Silent_p.T17716T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.T11219T|TTN_ENST00000342175.6_Silent_p.T11411T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18643	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCATTTTCAGTAATGTCAG	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60850-60852)acT>acC		titin							92.0	90.0	91.0					2																	179455600		1886	4118	6004	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455600A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55929T>C	2.37:g.179455600A>G						TTN_ENST00000359218.5_Silent_p.T11344T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.T11411T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.T17716T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T11219T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T18643T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.T20284T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61076	-			18643			Ig-like 111.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.60852T>C																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	95	0	0	0	1	0	18	95				
TTN	7273	broad.mit.edu	37	2	179483378	179483378	+	Silent	SNP	C	C	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:179483378C>G	ENST00000591111.1	-	201	42200	c.41976G>C	c.(41974-41976)ggG>ggC	p.G13992G	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.G6693G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.G15633G|TTN_ENST00000342992.6_Silent_p.G13065G|TTN_ENST00000460472.2_Silent_p.G6568G|TTN_ENST00000342175.6_Silent_p.G6760G|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13992	Ig-like 95.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTATACCTCCCTTTGTCTC	0.348																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(46897-46899)ggG>ggC		titin							152.0	139.0	143.0					2																	179483378		1820	4076	5896	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483378C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41976G>C	2.37:g.179483378C>G						TTN_ENST00000359218.5_Silent_p.G6693G|TTN_ENST00000342175.6_Silent_p.G6760G|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.G13065G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.G6568G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.G13992G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.G15633G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		251	47123	-			13992			Ig-like 98.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.46899G>C																																																																																					0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	59	0	0	0	1	0	6	59				
XPNPEP3	63929	broad.mit.edu	37	22	41318410	41318410	+	Missense_Mutation	SNP	C	C	T	rs377686555		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr22:41318410C>T	ENST00000357137.4	+	8	1213	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P354S	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	377					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CCTCTGCTTCCCTGGGACAAG	0.478																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1129-1131)Cct>Tct		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							216.0	206.0	209.0					22																	41318410		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41318410C>T		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1129C>T	22.37:g.41318410C>T	ENSP00000349658:p.Pro377Ser					XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P354S	p.P377S	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			8	1213	+			377					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.1129C>T	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921874	0.52653	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	D;D	0.82711	-1.64;-1.64	5.85	4.81	0.61882	Peptidase M24, structural domain (3);	0.099056	0.64402	N	0.000001	D	0.86268	0.5892	M	0.85859	2.78	0.58432	D	0.999999	B	0.34103	0.437	B	0.37047	0.24	D	0.86939	0.2078	10	0.59425	D	0.04	-9.3343	16.8186	0.85739	0.0:0.8712:0.1287:0.0	.	377	Q9NQH7	XPP3_HUMAN	S	377;354	ENSP00000349658:P377S;ENSP00000441942:P354S	ENSP00000349658:P377S	P	+	1	0	XPNPEP3	39648356	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	4.382000	0.59594	1.441000	0.47550	0.655000	0.94253	CCT		0.478	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		30	260	0	0	0	1	0	30	260				
GTF2E2	2961	broad.mit.edu	37	8	30472202	30472202	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:30472202G>A	ENST00000355904.4	-	4	571	c.289C>T	c.(289-291)Cta>Tta	p.L97L	GTF2E2_ENST00000522833.1_5'Flank	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	97					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TCTAAGGTTAGAGGATGCGTA	0.343																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(289-291)Cta>Tta		general transcription factor IIE, polypeptide 2, beta 34kDa							186.0	163.0	171.0					8																	30472202		2203	4300	6503	SO:0001819	synonymous_variant	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30472202G>A	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.289C>T	8.37:g.30472202G>A							p.L97L	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	4	571	-			97					D3DSV2|Q9H2B9	Silent	SNP	ENST00000355904.4	37	c.289C>T	CCDS6078.1																																																																																				0.343	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		8	41	0	0	0	1	0	8	41				
MGA	23269	broad.mit.edu	37	15	42041778	42041778	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr15:42041778G>A	ENST00000570161.1	+	16	5973	c.5973G>A	c.(5971-5973)aaG>aaA	p.K1991K	MGA_ENST00000545763.1_Silent_p.K1782K|MGA_ENST00000566586.1_Silent_p.K1782K|MGA_ENST00000389936.4_Silent_p.K1952K|MGA_ENST00000219905.7_Silent_p.K1991K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGAAACGAAGAAGGTTCTAC	0.413																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5971-5973)aaG>aaA		MGA, MAX dimerization protein							69.0	68.0	68.0					15																	42041778		1849	4088	5937	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041778G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5973G>A	15.37:g.42041778G>A						MGA_ENST00000570161.1_Silent_p.K1991K|MGA_ENST00000389936.4_Silent_p.K1952K|MGA_ENST00000566586.1_Silent_p.K1782K|MGA_ENST00000545763.1_Silent_p.K1782K	p.K1991K	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	6154	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1952					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.5973G>A	CCDS55959.1																																																																																				0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		10	79	0	0	0	1	0	10	79				
MUC17	140453	broad.mit.edu	37	7	100676068	100676068	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr7:100676068G>C	ENST00000306151.4	+	3	1435	c.1371G>C	c.(1369-1371)atG>atC	p.M457I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	457	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAACAAGTATGCCTGTCAGCA	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1369-1371)atG>atC		mucin 17, cell surface associated							271.0	277.0	275.0					7																	100676068		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676068G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1371G>C	7.37:g.100676068G>C	ENSP00000302716:p.Met457Ile						p.M457I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1435	+	Lung NSC(181;0.136)|all_lung(186;0.182)		457			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1371G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.360537	0.01245	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	1.22	-2.44	0.06502	.	.	.	.	.	T	0.01222	0.0040	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46871	-0.9160	9	0.25751	T	0.34	.	0.5729	0.00698	0.2005:0.3325:0.1756:0.2914	.	457	Q685J3	MUC17_HUMAN	I	457	ENSP00000302716:M457I	ENSP00000302716:M457I	M	+	3	0	MUC17	100462788	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.044000	0.12023	-2.163000	0.00783	-0.849000	0.03036	ATG		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		115	518	0	0	0	1	0	115	518				
TYSND1	219743	broad.mit.edu	37	10	71903626	71903626	+	Silent	SNP	G	G	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr10:71903626G>T	ENST00000287078.6	-	2	1268	c.1269C>A	c.(1267-1269)atC>atA	p.I423I	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_Intron	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	423	Serine protease.				protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CGGGCACAGGGATGGGGACAT	0.592																																						ENST00000287078.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(1267-1269)atC>atA		trypsin domain containing 1							84.0	71.0	76.0					10																	71903626		2203	4300	6503	SO:0001819	synonymous_variant	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71903626G>T	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1269C>A	10.37:g.71903626G>T						TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_Intron	p.I423I	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN			2	1268	-			423			Serine protease.		Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Silent	SNP	ENST00000287078.6	37	c.1269C>A	CCDS31213.1																																																																																				0.592	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		7	36	1	0	2.7689e-08	1	2.92151e-08	7	36				
CCDC146	57639	broad.mit.edu	37	7	76871152	76871152	+	Silent	SNP	C	C	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr7:76871152C>G	ENST00000285871.4	+	4	511	c.384C>G	c.(382-384)ctC>ctG	p.L128L	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	128										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AACAACTTCTCAAGTATCAAA	0.403																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(382-384)ctC>ctG		coiled-coil domain containing 146							105.0	104.0	104.0					7																	76871152		2203	4300	6503	SO:0001819	synonymous_variant	57639							g.chr7:76871152C>G	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.384C>G	7.37:g.76871152C>G						CCDC146_ENST00000431197.1_5'UTR	p.L128L	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			4	511	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	128					A8K8X6|Q9P223	Silent	SNP	ENST00000285871.4	37	c.384C>G	CCDS34671.1																																																																																				0.403	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		22	63	0	0	0	1	0	22	63				
CCDC36	339834	broad.mit.edu	37	3	49292911	49292911	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:49292911G>A	ENST00000438782.1	+	7	857	c.621G>A	c.(619-621)aaG>aaA	p.K207K	CCDC36_ENST00000296449.5_Silent_p.K207K|CCDC36_ENST00000452691.2_Silent_p.K207K			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	207										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTGAGATGAAGAAAAGATTTG	0.393																																						ENST00000438782.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14						c.(619-621)aaG>aaA		coiled-coil domain containing 36							126.0	121.0	123.0					3																	49292911		2203	4300	6503	SO:0001819	synonymous_variant	339834							g.chr3:49292911G>A	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.621G>A	3.37:g.49292911G>A						CCDC36_ENST00000296449.5_Silent_p.K207K|CCDC36_ENST00000452691.2_Silent_p.K207K	p.K207K			Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	7	857	+			207					C9JJL0|Q05DG9|Q96LP7	Silent	SNP	ENST00000438782.1	37	c.621G>A	CCDS33755.2																																																																																				0.393	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		15	61	0	0	0	1	0	15	61				
RTEL1	51750	broad.mit.edu	37	20	62321751	62321751	+	Missense_Mutation	SNP	G	G	C	rs553827008		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr20:62321751G>C	ENST00000360203.5	+	26	2695	c.2370G>C	c.(2368-2370)aaG>aaC	p.K790N	RTEL1_ENST00000370018.3_Missense_Mutation_p.K790N|RTEL1_ENST00000370003.1_Missense_Mutation_p.K35N|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.K790N|RTEL1_ENST00000318100.4_Missense_Mutation_p.K790N|RTEL1_ENST00000508582.2_Missense_Mutation_p.K814N					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GGAAAGCTAAGAGTCTGGACC	0.692																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2368-2370)aaG>aaC		regulator of telomere elongation helicase 1							38.0	40.0	40.0					20																	62321751		2197	4292	6489	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62321751G>C	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2370G>C	20.37:g.62321751G>C	ENSP00000353332:p.Lys790Asn					RTEL1_ENST00000370003.1_Missense_Mutation_p.K35N|RTEL1_ENST00000508582.2_Missense_Mutation_p.K814N|RTEL1_ENST00000370018.3_Missense_Mutation_p.K790N|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.K790N|RTEL1_ENST00000360203.5_Missense_Mutation_p.K790N	p.K790N			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		26	3197	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		790						Missense_Mutation	SNP	ENST00000360203.5	37	c.2370G>C		.	.	.	.	.	.	.	.	.	.	G	10.64	1.407152	0.25378	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000425905;ENST00000370003	T;T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85;2.85	4.16	1.11	0.20524	.	0.662202	0.15593	N	0.254303	T	0.14570	0.0352	L	0.59436	1.845	0.09310	N	0.999994	P;D;P;P	0.59357	0.734;0.985;0.713;0.551	P;P;P;P	0.52957	0.471;0.714;0.459;0.541	T	0.15093	-1.0449	10	0.24483	T	0.36	-8.9675	4.2016	0.10469	0.3842:0.1664:0.4494:0.0	.	814;35;790;790	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	N	790;790;814;790;183;35	ENSP00000359035:K790N;ENSP00000322287:K790N;ENSP00000424307:K814N;ENSP00000353332:K790N;ENSP00000388063:K183N;ENSP00000359020:K35N	ENSP00000353332:K790N	K	+	3	2	AL353715.1	61792195	0.000000	0.05858	0.004000	0.12327	0.111000	0.19643	-0.418000	0.07080	0.081000	0.16988	-0.251000	0.11542	AAG		0.692	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		5	38	0	0	0	1	0	5	38				
MAGEE2	139599	broad.mit.edu	37	X	75003750	75003750	+	Silent	SNP	G	G	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chrX:75003750G>T	ENST00000373359.2	-	1	1329	c.1137C>A	c.(1135-1137)ctC>ctA	p.L379L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	379	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTGGACAAGGAGGTAGATGT	0.443																																						ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1135-1137)ctC>ctA		melanoma antigen family E, 2							116.0	93.0	101.0					X																	75003750		2203	4300	6503	SO:0001819	synonymous_variant	139599							g.chrX:75003750G>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1137C>A	X.37:g.75003750G>T							p.L379L	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	1329	-			379			MAGE 2.		Q5JSI5	Silent	SNP	ENST00000373359.2	37	c.1137C>A	CCDS14431.1																																																																																				0.443	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		29	116	1	0	5.60225e-13	1	6.05404e-13	29	116				
LARGE	9215	broad.mit.edu	37	22	33673130	33673130	+	Silent	SNP	C	C	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr22:33673130C>G	ENST00000354992.2	-	15	2560	c.1989G>C	c.(1987-1989)gtG>gtC	p.V663V	LARGE_ENST00000397394.2_Silent_p.V663V|LARGE_ENST00000402320.1_Silent_p.V611V|LARGE_ENST00000452586.2_Silent_p.V462V|LARGE_ENST00000337431.2_Silent_p.V611V|LARGE_ENST00000437602.2_Silent_p.V614V	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	663					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGTCACGTCTCACAACAACAT	0.577																																					Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1987-1989)gtG>gtC		like-glycosyltransferase							103.0	87.0	93.0					22																	33673130		2203	4300	6503	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33673130C>G	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1989G>C	22.37:g.33673130C>G						LARGE_ENST00000402320.1_Silent_p.V611V|LARGE_ENST00000452586.2_Silent_p.V462V|LARGE_ENST00000437602.2_Silent_p.V614V|LARGE_ENST00000337431.2_Silent_p.V611V|LARGE_ENST00000397394.2_Silent_p.V663V	p.V663V	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			15	2560	-		Lung NSC(1;0.219)	663					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.1989G>C	CCDS13912.1																																																																																				0.577	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		23	82	0	0	0	1	0	23	82				
FAM71B	153745	broad.mit.edu	37	5	156590665	156590665	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr5:156590665G>T	ENST00000302938.4	-	2	706	c.611C>A	c.(610-612)gCa>gAa	p.A204E		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	204						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGAGCTCTGCAGCCTATAC	0.493																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(610-612)gCa>gAa		family with sequence similarity 71, member B							77.0	81.0	80.0					5																	156590665		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590665G>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.611C>A	5.37:g.156590665G>T	ENSP00000305596:p.Ala204Glu						p.A204E	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	706	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	204					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.611C>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	8.624	0.892140	0.17613	.	.	ENSG00000170613	ENST00000302938	T	0.03717	3.83	3.9	3.01	0.34805	.	1.308410	0.05345	N	0.530776	T	0.04092	0.0114	L	0.40543	1.245	0.09310	N	0.999998	P	0.41313	0.745	B	0.38712	0.28	T	0.22661	-1.0210	10	0.06365	T	0.9	0.0542	9.5703	0.39425	0.0:0.2142:0.7858:0.0	.	204	Q8TC56	FA71B_HUMAN	E	204	ENSP00000305596:A204E	ENSP00000305596:A204E	A	-	2	0	FAM71B	156523243	0.975000	0.34042	0.277000	0.24703	0.020000	0.10135	3.616000	0.54174	1.202000	0.43218	-0.175000	0.13238	GCA		0.493	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		11	72	1	0	0.00829132	1	0.00841694	11	72				
APOL3	80833	broad.mit.edu	37	22	36556749	36556749	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr22:36556749G>A	ENST00000349314.2	-	1	228	c.191C>T	c.(190-192)tCt>tTt	p.S64F	APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000397293.2_5'UTR|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000424878.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	64					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						GTGTGAGCAAGATCCAGCTGT	0.512																																						ENST00000349314.2																			0				endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						c.(190-192)tCt>tTt		apolipoprotein L, 3							140.0	114.0	123.0					22																	36556749		2203	4300	6503	SO:0001583	missense	80833				inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	g.chr22:36556749G>A	AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.191C>T	22.37:g.36556749G>A	ENSP00000344577:p.Ser64Phe					APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000397293.2_5'UTR	p.S64F	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN			1	228	-			64					B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	ENST00000349314.2	37	c.191C>T	CCDS13922.1	.	.	.	.	.	.	.	.	.	.	G	4.612	0.113646	0.08831	.	.	ENSG00000128284	ENST00000349314;ENST00000531095	T;T	0.62639	3.55;0.01	2.76	0.581	0.17407	.	2.104850	0.04843	U	0.440845	T	0.53206	0.1782	N	0.08118	0	0.19575	N	0.999962	D	0.65815	0.995	P	0.56278	0.795	T	0.47837	-0.9086	10	0.87932	D	0	.	3.8781	0.09066	0.1464:0.2534:0.6002:0.0	.	64	O95236	APOL3_HUMAN	F	64;28	ENSP00000344577:S64F;ENSP00000432271:S28F	ENSP00000344577:S64F	S	-	2	0	APOL3	34886695	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.282000	0.18829	0.222000	0.20900	0.603000	0.83216	TCT		0.512	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		8	105	0	0	0	1	0	8	105				
CLCNKA	1187	broad.mit.edu	37	1	16352699	16352699	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:16352699C>G	ENST00000331433.4	+	5	474	c.455C>G	c.(454-456)tCc>tGc	p.S152C	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Missense_Mutation_p.S152C|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S109C|CLCNKA_ENST00000420078.1_Missense_Mutation_p.S152C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	152					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTGGGCCTCTCCTGCACCCTG	0.617																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(454-456)tCc>tGc		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						157.0	149.0	152.0					1																	16352699		2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16352699C>G		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.455C>G	1.37:g.16352699C>G	ENSP00000332771:p.Ser152Cys					CLCNKA_ENST00000420078.1_Missense_Mutation_p.S152C|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S109C|CLCNKA_ENST00000331433.4_Missense_Mutation_p.S152C	p.S152C			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	6	583	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	152					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.455C>G	CCDS167.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693771	0.30052	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	3.38	2.35	0.29111	Chloride channel, core (2);	0.648856	0.15311	N	0.269102	D	0.86070	0.5845	L	0.27053	0.805	0.33938	D	0.64285	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.15484	0.013;0.013;0.013	D	0.87452	0.2402	10	0.66056	D	0.02	.	12.1757	0.54184	0.0:0.8263:0.1737:0.0	.	109;152;152	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	C	152;152;109;152	ENSP00000364844:S152C;ENSP00000410353:S152C;ENSP00000414445:S109C;ENSP00000332771:S152C	ENSP00000332771:S152C	S	+	2	0	CLCNKA	16225286	0.887000	0.30362	0.988000	0.46212	0.606000	0.37113	0.400000	0.20932	1.892000	0.54788	0.313000	0.20887	TCC		0.617	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			12	215	0	0	0	1	0	12	215				
PTPRK	5796	broad.mit.edu	37	6	128563725	128563725	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:128563725G>C	ENST00000368215.3	-	4	517	c.518C>G	c.(517-519)tCa>tGa	p.S173*	PTPRK_ENST00000368227.3_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.S173*|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.S173*|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	173	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCTCCCTCCTGAGACTTCAGC	0.343																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(517-519)tCa>tGa		protein tyrosine phosphatase, receptor type, K							125.0	119.0	121.0					6																	128563725		2203	4300	6503	SO:0001587	stop_gained	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128563725G>C	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.518C>G	6.37:g.128563725G>C	ENSP00000357198:p.Ser173*					PTPRK_ENST00000532331.1_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368215.3_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.S173*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.S173*	p.S173*			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	4	884	-			173			MAM.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Nonsense_Mutation	SNP	ENST00000368215.3	37	c.518C>G		.	.	.	.	.	.	.	.	.	.	G	37	6.365501	0.97507	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.	.	.	5.78	5.78	0.91487	.	0.088097	0.48286	D	0.000188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.0165	0.97478	0.0:0.0:1.0:0.0	.	.	.	.	X	173;173;173;173;173;173;173;30	.	ENSP00000357190:S173X	S	-	2	0	PTPRK	128605418	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.578000	0.82498	2.736000	0.93811	0.557000	0.71058	TCA		0.343	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			7	26	0	0	0	1	0	7	26				
IKBKE	9641	broad.mit.edu	37	1	206652357	206652357	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:206652357A>G	ENST00000367120.3	+	10	1437	c.1064A>G	c.(1063-1065)gAg>gGg	p.E355G	IKBKE_ENST00000537984.1_Missense_Mutation_p.E270G	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	355					immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TACCTCTTTGAGGGTCACCTC	0.622																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(1063-1065)gAg>gGg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							113.0	106.0	108.0					1																	206652357		2203	4300	6503	SO:0001583	missense	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206652357A>G	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1064A>G	1.37:g.206652357A>G	ENSP00000356087:p.Glu355Gly					IKBKE_ENST00000537984.1_Missense_Mutation_p.E270G|IKBKE_ENST00000462698.1_3'UTR	p.E355G	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			10	1437	+	Breast(84;0.137)		355					D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.1064A>G	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451050	0.84209	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.67698	-0.28;-0.16	5.97	5.97	0.96955	.	0.233115	0.43919	D	0.000516	T	0.80686	0.4670	M	0.66939	2.045	0.41420	D	0.987798	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.962	T	0.81247	-0.1019	10	0.49607	T	0.09	2.2289	16.4504	0.83984	1.0:0.0:0.0:0.0	.	270;355	Q3B754;Q14164	.;IKKE_HUMAN	G	355;270	ENSP00000356087:E355G;ENSP00000444529:E270G	ENSP00000356087:E355G	E	+	2	0	IKBKE	204718980	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.554000	0.90689	2.288000	0.76882	0.533000	0.62120	GAG		0.622	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			63	140	0	0	0	1	0	63	140				
BRPF3	27154	broad.mit.edu	37	6	36168560	36168560	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:36168560A>G	ENST00000357641.6	+	2	714	c.461A>G	c.(460-462)tAt>tGt	p.Y154C	BRPF3_ENST00000543502.1_Missense_Mutation_p.Y154C|BRPF3_ENST00000443324.2_Missense_Mutation_p.Y154C|BRPF3_ENST00000534694.1_Missense_Mutation_p.Y154C|BRPF3_ENST00000534400.1_Missense_Mutation_p.Y154C|BRPF3_ENST00000339717.7_Missense_Mutation_p.Y154C	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	154					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GAGGTAGAGTATGACATGGAT	0.547																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(460-462)tAt>tGt		bromodomain and PHD finger containing, 3							110.0	86.0	94.0					6																	36168560		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36168560A>G	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.461A>G	6.37:g.36168560A>G	ENSP00000350267:p.Tyr154Cys					BRPF3_ENST00000534694.1_Missense_Mutation_p.Y154C|BRPF3_ENST00000443324.2_Missense_Mutation_p.Y154C|BRPF3_ENST00000543502.1_Missense_Mutation_p.Y154C|BRPF3_ENST00000534400.1_Missense_Mutation_p.Y154C|BRPF3_ENST00000339717.7_Missense_Mutation_p.Y154C	p.Y154C	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			2	714	+			154					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.461A>G	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.617956	0.66787	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.84	5.84	0.93424	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93757	0.7063	10	0.87932	D	0	.	16.2547	0.82505	1.0:0.0:0.0:0.0	.	154;154;154	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	C	154	ENSP00000350267:Y154C;ENSP00000345419:Y154C;ENSP00000434501:Y154C;ENSP00000445352:Y154C;ENSP00000387368:Y154C;ENSP00000436504:Y154C	ENSP00000345419:Y154C	Y	+	2	0	BRPF3	36276538	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.904000	0.92590	2.240000	0.73641	0.456000	0.33151	TAT		0.547	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		14	58	0	0	0	1	0	14	58				
SFI1	9814	broad.mit.edu	37	22	32002333	32002333	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr22:32002333A>G	ENST00000400288.2	+	21	2179	c.2074A>G	c.(2074-2076)Aaa>Gaa	p.K692E	SFI1_ENST00000414585.1_Missense_Mutation_p.K539E|SFI1_ENST00000400289.1_Missense_Mutation_p.K610E|SFI1_ENST00000443326.1_Missense_Mutation_p.K610E|SFI1_ENST00000432498.1_Missense_Mutation_p.K661E|SFI1_ENST00000540643.1_Missense_Mutation_p.K637E|SFI1_ENST00000443011.1_Missense_Mutation_p.K539E	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	692					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						ACGTCGCTGGAAAGAGAACAC	0.498																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(1981-1983)Aaa>Gaa		Sfi1 homolog, spindle assembly associated (yeast)							79.0	80.0	79.0					22																	32002333		1992	4161	6153	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32002333A>G	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2074A>G	22.37:g.32002333A>G	ENSP00000383145:p.Lys692Glu					SFI1_ENST00000443326.1_Missense_Mutation_p.K610E|SFI1_ENST00000400288.2_Missense_Mutation_p.K692E|SFI1_ENST00000400289.1_Missense_Mutation_p.K610E|SFI1_ENST00000443011.1_Missense_Mutation_p.K539E|SFI1_ENST00000540643.1_Missense_Mutation_p.K637E|SFI1_ENST00000414585.1_Missense_Mutation_p.K539E	p.K661E	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			20	2374	+			692					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.1981A>G	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	A	9.398	1.077144	0.20227	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.29142	2.87;2.89;2.73;2.67;2.69;2.73;2.9;1.58	5.06	2.85	0.33270	.	0.143817	0.64402	D	0.000009	T	0.15782	0.0380	N	0.08118	0	0.22779	N	0.998748	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.002;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001	T	0.20009	-1.0288	10	0.72032	D	0.01	.	9.7508	0.40475	0.7073:0.2927:0.0:0.0	.	637;610;610;661;692	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	E	661;637;610;539;539;610;692;275	ENSP00000402679:K661E;ENSP00000443025:K637E;ENSP00000416469:K610E;ENSP00000397148:K539E;ENSP00000401199:K539E;ENSP00000383146:K610E;ENSP00000383145:K692E;ENSP00000398871:K275E	ENSP00000383145:K692E	K	+	1	0	SFI1	30332333	1.000000	0.71417	0.996000	0.52242	0.069000	0.16628	2.702000	0.47102	0.330000	0.23485	0.459000	0.35465	AAA		0.498	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		4	66	0	0	0	1	0	4	66				
CIITA	4261	broad.mit.edu	37	16	11000940	11000940	+	Missense_Mutation	SNP	G	G	A	rs144646271	byFrequency	TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr16:11000940G>A	ENST00000324288.8	+	11	1724	c.1591G>A	c.(1591-1593)Ggc>Agc	p.G531S	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	531	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCTGCTGGCCGGCCTTTTCCA	0.692			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1591-1593)Ggc>Agc		class II, major histocompatibility complex, transactivator		G	SER/GLY	0,4366		0,0,2183	19.0	24.0	22.0		1591	5.4	0.2	16	dbSNP_134	22	7,8563		0,7,4278	yes	missense	CIITA	NM_000246.3	56	0,7,6461	AA,AG,GG		0.0817,0.0,0.0541	probably-damaging	531/1131	11000940	7,12929	2183	4285	6468	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11000940G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1591G>A	16.37:g.11000940G>A	ENSP00000316328:p.Gly531Ser					CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	p.G531S	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	1724	+			531			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.1591G>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.153126	0.57259	0.0	8.17E-4	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.76839	-1.05	5.4	5.4	0.78164	NACHT nucleoside triphosphatase (1);	0.000000	0.56097	D	0.000026	T	0.82070	0.4957	L	0.31845	0.965	0.80722	D	1	D;P;D;D	0.89917	1.0;0.941;1.0;1.0	D;P;D;D	0.69824	0.966;0.538;0.943;0.949	T	0.80067	-0.1537	10	0.31617	T	0.26	.	17.7347	0.88389	0.0:0.0:1.0:0.0	.	531;531;483;531	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	S	531;483	ENSP00000316328:G531S	ENSP00000316328:G531S	G	+	1	0	CIITA	10908441	0.999000	0.42202	0.165000	0.22776	0.005000	0.04900	4.034000	0.57289	2.511000	0.84671	0.655000	0.94253	GGC		0.692	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		5	59	0	0	0	1	0	5	59				
RHOA	387	broad.mit.edu	37	3	49405953	49405953	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:49405953C>T	ENST00000418115.1	-	3	569	c.185G>A	c.(184-186)gGg>gAg	p.G62E	RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.G62E|RHOA-IT1_ENST00000428083.1_RNA	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	62					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ATCTTCCTGCCCAGCTGTGTC	0.473																																						ENST00000418115.1																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(184-186)gGg>gAg		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						113.0	108.0	110.0					3																	49405953		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49405953C>T	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.185G>A	3.37:g.49405953C>T	ENSP00000400175:p.Gly62Glu					RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.G62E	p.G62E	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	569	-			62					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.185G>A	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261034	0.95368	.	.	ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425	D;D;D	0.93659	-3.26;-3.26;-3.26	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98482	0.9494	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99517	1.0957	10	0.87932	D	0	.	18.6067	0.91268	0.0:1.0:0.0:0.0	.	62	P61586	RHOA_HUMAN	E	62	ENSP00000400175:G62E;ENSP00000413587:G62E;ENSP00000408402:G62E	ENSP00000400175:G62E	G	-	2	0	RHOA	49380957	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.675000	0.84002	2.749000	0.94314	0.551000	0.68910	GGG		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		16	76	0	0	0	1	0	16	76				
OR13C3	138803	broad.mit.edu	37	9	107298658	107298658	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr9:107298658C>T	ENST00000374781.2	-	1	479	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGCCATCATGCCAAGAAGCAG	0.463																																					GBM(86;1248 1274 14222 15028 46219)	ENST00000374781.2																			0				endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						c.(436-438)gGc>gAc		olfactory receptor, family 13, subfamily C, member 3							228.0	194.0	206.0					9																	107298658		2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298658C>T		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.437G>A	9.37:g.107298658C>T	ENSP00000363913:p.Gly146Asp						p.G146D	NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN			1	479	-			146					Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.437G>A	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813008	0.50527	.	.	ENSG00000204246	ENST00000374781	T	0.01347	4.99	4.72	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.153752	0.29868	N	0.010989	T	0.04407	0.0121	M	0.78049	2.395	0.27189	N	0.960455	D	0.64830	0.994	P	0.53549	0.729	T	0.08513	-1.0718	10	0.87932	D	0	.	7.5769	0.27942	0.1837:0.6387:0.1775:0.0	.	146	Q8NGS6	O13C3_HUMAN	D	146	ENSP00000363913:G146D	ENSP00000363913:G146D	G	-	2	0	OR13C3	106338479	0.008000	0.16893	0.999000	0.59377	0.555000	0.35460	1.115000	0.31209	2.610000	0.88304	0.591000	0.81541	GGC		0.463	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			32	203	0	0	0	1	0	32	203				
FILIP1	27145	broad.mit.edu	37	6	76022592	76022592	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:76022592A>C	ENST00000237172.7	-	5	3286	c.2956T>G	c.(2956-2958)Ttt>Gtt	p.F986V	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.F986V|FILIP1_ENST00000370020.1_Missense_Mutation_p.F887V	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	986										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTCTGGAAAATGTAGTAATT	0.463																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2956-2958)Ttt>Gtt		filamin A interacting protein 1							89.0	86.0	87.0					6																	76022592		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022592A>C	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2956T>G	6.37:g.76022592A>C	ENSP00000237172:p.Phe986Val					FILIP1_ENST00000370020.1_Missense_Mutation_p.F887V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.F986V	p.F986V			Q7Z7B0	FLIP1_HUMAN			5	3177	-			986					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2956T>G	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972198	0.34754	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20200	2.09;2.1;2.1	6.03	3.6	0.41247	.	0.196992	0.56097	D	0.000040	T	0.07683	0.0193	L	0.58101	1.795	0.33949	D	0.644229	B;B;B	0.15473	0.001;0.013;0.006	B;B;B	0.20577	0.001;0.013;0.03	T	0.18023	-1.0350	10	0.20046	T	0.44	-6.2619	7.7586	0.28938	0.8048:0.0:0.0672:0.128	.	986;986;986	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	986;986;887	ENSP00000376728:F986V;ENSP00000237172:F986V;ENSP00000359037:F887V	ENSP00000237172:F986V	F	-	1	0	FILIP1	76079312	1.000000	0.71417	0.229000	0.23960	0.635000	0.38103	3.937000	0.56575	0.492000	0.27815	0.533000	0.62120	TTT		0.463	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		22	94	0	0	0	1	0	22	94				
SRP68	6730	broad.mit.edu	37	17	74063379	74063379	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr17:74063379C>T	ENST00000307877.2	-	3	445	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_Intron	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	95					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GAGTGTTTTTCGAAGACGTCT	0.408																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(283-285)cGa>cAa		signal recognition particle 68kDa							208.0	182.0	191.0					17																	74063379		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74063379C>T	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.284G>A	17.37:g.74063379C>T	ENSP00000312066:p.Arg95Gln					SRP68_ENST00000539137.1_Intron|SRP68_ENST00000355113.5_5'UTR	p.R95Q	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			3	445	-			95					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.284G>A	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	c	34	5.369304	0.95900	.	.	ENSG00000167881	ENST00000540937;ENST00000307877;ENST00000304220	.	.	.	4.43	4.43	0.53597	.	0.057430	0.64402	D	0.000002	D	0.84397	0.5463	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88174	0.2866	9	0.87932	D	0	-21.3801	17.2564	0.87057	0.0:1.0:0.0:0.0	.	95	Q9UHB9	SRP68_HUMAN	Q	95	.	ENSP00000307756:R95Q	R	-	2	0	SRP68	71574974	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.498000	0.81546	2.310000	0.77875	0.580000	0.79431	CGA		0.408	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		11	88	0	0	0	1	0	11	88				
KANSL1L	151050	broad.mit.edu	37	2	210962878	210962878	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:210962878G>A	ENST00000281772.9	-	5	1745	c.1482C>T	c.(1480-1482)tcC>tcT	p.S494S	KANSL1L_ENST00000457374.1_Silent_p.S494S|KANSL1L_ENST00000452086.1_Silent_p.S494S|KANSL1L_ENST00000418791.1_Silent_p.S494S	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	494						histone acetyltransferase complex (GO:0000123)											ATGAAGTTGGGGACAAGTTGA	0.423																																						ENST00000281772.9																			0											c.(1480-1482)tcC>tcT		KAT8 regulatory NSL complex subunit 1-like							127.0	116.0	120.0					2																	210962878		2203	4300	6503	SO:0001819	synonymous_variant	151050							g.chr2:210962878G>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1482C>T	2.37:g.210962878G>A						KANSL1L_ENST00000457374.1_Silent_p.S494S|KANSL1L_ENST00000452086.1_Silent_p.S494S|KANSL1L_ENST00000418791.1_Silent_p.S494S	p.S494S	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			5	1745	-			494					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	c.1482C>T	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.800|9.800	1.180345|1.180345	0.21787|0.21787	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000438563|ENST00000428655	.|.	.|.	.|.	5.25|5.25	3.17|3.17	0.36434|0.36434	.|.	.|.	.|.	.|.	.|.	T|T	0.44808|0.44808	0.1311|0.1311	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.37663|0.37663	-0.9696|-0.9696	4|4	.|.	.|.	.|.	.|.	2.4169|2.4169	0.04438|0.04438	0.4224:0.0:0.3591:0.2185|0.4224:0.0:0.3591:0.2185	.|.	.|.	.|.	.|.	L|S	168|189	.|.	.|.	P|P	-|-	2|1	0|0	C2orf67|C2orf67	210671123|210671123	0.940000|0.940000	0.31905|0.31905	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	-0.039000|-0.039000	0.12124|0.12124	1.203000|1.203000	0.43233|0.43233	0.585000|0.585000	0.79938|0.79938	CCC|CCC		0.423	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		14	59	0	0	0	1	0	14	59				
MARVELD3	91862	broad.mit.edu	37	16	71674711	71674711	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr16:71674711G>C	ENST00000299952.4	+	3	1057	c.1014G>C	c.(1012-1014)gaG>gaC	p.E338D	MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	341	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				AAACAAGAGAGAGGCTCTATG	0.572																																						ENST00000299952.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(1012-1014)gaG>gaC		MARVEL domain containing 3							72.0	67.0	69.0					16																	71674711		2198	4300	6498	SO:0001583	missense	91862					integral to membrane		g.chr16:71674711G>C	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.1014G>C	16.37:g.71674711G>C	ENSP00000299952:p.Glu338Asp					MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR	p.E338D	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN			3	1057	+		Ovarian(137;0.125)	341			MARVEL.		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000299952.4	37	c.1014G>C	CCDS32478.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042612	0.75732	.	.	ENSG00000140832	ENST00000299952	D	0.87029	-2.2	5.79	4.83	0.62350	.	0.046498	0.85682	D	0.000000	D	0.91078	0.7192	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.64042	0.921	D	0.90792	0.4687	9	0.59425	D	0.04	-27.195	8.2058	0.31454	0.1802:0.0:0.8198:0.0	.	338	Q96A59-2	.	D	338	ENSP00000299952:E338D	ENSP00000299952:E338D	E	+	3	2	MARVELD3	70232212	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.959000	0.56744	1.425000	0.47237	0.655000	0.94253	GAG		0.572	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		9	80	0	0	0	1	0	9	80				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	59	0	0	0	1	0	4	59				
HNF1B	6928	broad.mit.edu	37	17	36064972	36064972	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr17:36064972G>C	ENST00000225893.4	-	6	1652	c.1291C>G	c.(1291-1293)Caa>Gaa	p.Q431E	HNF1B_ENST00000561193.1_Missense_Mutation_p.Q405E|HNF1B_ENST00000560016.1_Missense_Mutation_p.Q431E|HNF1B_ENST00000427275.2_Missense_Mutation_p.Q405E	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	431					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			ATGAGGTTTTGAGATTGCTGG	0.488																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1291-1293)Caa>Gaa		HNF1 homeobox B							196.0	186.0	189.0					17																	36064972		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36064972G>C	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1291C>G	17.37:g.36064972G>C	ENSP00000225893:p.Gln431Glu					HNF1B_ENST00000427275.2_Missense_Mutation_p.Q405E|HNF1B_ENST00000561193.1_Missense_Mutation_p.Q405E|HNF1B_ENST00000560016.1_Missense_Mutation_p.Q431E	p.Q431E	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		6	1652	-		Breast(25;0.00765)|Ovarian(249;0.15)	431					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.1291C>G	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569570	0.86439	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000539087	D;D	0.97505	-4.41;-4.41	5.6	5.6	0.85130	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.060248	0.64402	D	0.000002	D	0.97864	0.9298	M	0.76328	2.33	0.54753	D	0.999987	P;P	0.52170	0.951;0.709	P;P	0.61940	0.896;0.477	D	0.97039	0.9756	10	0.13470	T	0.59	-33.7562	18.6073	0.91271	0.0:0.0:1.0:0.0	.	405;431	E0YMJ6;P35680	.;HNF1B_HUMAN	E	431;405;319	ENSP00000225893:Q431E;ENSP00000412212:Q405E	ENSP00000225893:Q431E	Q	-	1	0	HNF1B	33139085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.480000	0.97931	2.640000	0.89533	0.655000	0.94253	CAA		0.488	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		13	69	0	0	0	1	0	13	69				
PLEKHM1P	440456	broad.mit.edu	37	17	62796685	62796685	+	RNA	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr17:62796685G>A	ENST00000582986.1	-	0	1235					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										GGTTCCTCAGGCTGGTCTGAG	0.682																																						ENST00000582986.1																			0																																																			440456							g.chr17:62796685G>A			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62796685G>A								NR_024386.1						0	1235	-									RNA	SNP	ENST00000582986.1	37																																																																																						0.682	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		19	54	0	0	0	1	0	19	54				
KIAA0196	9897	broad.mit.edu	37	8	126087290	126087290	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:126087290C>T	ENST00000318410.7	-	8	1277	c.928G>A	c.(928-930)Gca>Aca	p.A310T	KIAA0196_ENST00000517845.1_Missense_Mutation_p.A162T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	310					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GCAGTTTTTGCAGCTTTGTAA	0.378																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(928-930)Gca>Aca		KIAA0196							157.0	153.0	154.0					8																	126087290		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126087290C>T		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.928G>A	8.37:g.126087290C>T	ENSP00000318016:p.Ala310Thr					KIAA0196_ENST00000517845.1_Missense_Mutation_p.A162T	p.A310T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		8	1277	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		310					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.928G>A	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	C	36	5.652949	0.96724	.	.	ENSG00000164961	ENST00000318410;ENST00000517845;ENST00000523297	D;D;D	0.93712	-3.27;-3.27;-3.27	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	M	0.88310	2.945	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.97705	1.0187	10	0.87932	D	0	-12.2294	19.7873	0.96444	0.0:1.0:0.0:0.0	.	310	Q12768	STRUM_HUMAN	T	310;162;162	ENSP00000318016:A310T;ENSP00000429676:A162T;ENSP00000427946:A162T	ENSP00000318016:A310T	A	-	1	0	KIAA0196	126156472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.749000	0.85096	2.673000	0.90976	0.655000	0.94253	GCA		0.378	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		6	77	0	0	0	1	0	6	77				
YOD1	55432	broad.mit.edu	37	1	207222776	207222776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:207222776C>T	ENST00000315927.4	-	2	682	c.636G>A	c.(634-636)tgG>tgA	p.W212*	YOD1_ENST00000391927.1_Nonsense_Mutation_p.W168*|PFKFB2_ENST00000411990.2_5'Flank|YOD1_ENST00000367084.1_Nonsense_Mutation_p.W168*	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	212	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CCCTTTTGATCCAGTCACAGT	0.418																																						ENST00000367084.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11						c.(502-504)tgG>tgA		YOD1 deubiquitinase							180.0	179.0	179.0					1																	207222776		2203	4300	6503	SO:0001587	stop_gained	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207222776C>T		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.636G>A	1.37:g.207222776C>T	ENSP00000326813:p.Trp212*					YOD1_ENST00000315927.4_Nonsense_Mutation_p.W212*|YOD1_ENST00000391927.1_Nonsense_Mutation_p.W168*	p.W168*	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN			4	708	-	Prostate(682;0.19)		212			OTU.		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Nonsense_Mutation	SNP	ENST00000315927.4	37	c.504G>A	CCDS31002.1	.	.	.	.	.	.	.	.	.	.	C	37	6.388674	0.97529	.	.	ENSG00000180667	ENST00000367084;ENST00000315927;ENST00000391927	.	.	.	5.71	5.71	0.89125	.	0.112007	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.846	0.92208	0.0:1.0:0.0:0.0	.	.	.	.	X	168;212;168	.	ENSP00000326813:W212X	W	-	3	0	YOD1	205289399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.653000	0.83643	2.687000	0.91594	0.655000	0.94253	TGG		0.418	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		12	222	0	0	0	1	0	12	222				
OR2M4	26245	broad.mit.edu	37	1	248402920	248402920	+	Silent	SNP	T	T	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:248402920T>C	ENST00000306687.1	+	1	690	c.690T>C	c.(688-690)tcT>tcC	p.S230S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	230					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATGGGCTCTGGGGAAAGTC	0.488																																						ENST00000306687.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(688-690)tcT>tcC		olfactory receptor, family 2, subfamily M, member 4							97.0	91.0	93.0					1																	248402920		2203	4300	6503	SO:0001819	synonymous_variant	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402920T>C	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.690T>C	1.37:g.248402920T>C							p.S230S	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	690	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		230					Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	c.690T>C	CCDS31108.1																																																																																				0.488	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		21	89	0	0	0	1	0	21	89				
NOTCH1	4851	broad.mit.edu	37	9	139404312	139404312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr9:139404312C>A	ENST00000277541.6	-	18	2917	c.2842G>T	c.(2842-2844)Gag>Tag	p.E948*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	948	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E948*(1)|p.E949*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGCACACTCGTTGATGTCC	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Nonsense(2)	p.E948*(1)|p.E949*(1)	upper_aerodigestive_tract(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(2842-2844)Gag>Tag		notch 1							77.0	90.0	86.0					9																	139404312		2065	4214	6279	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139404312C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2842G>T	9.37:g.139404312C>A	ENSP00000277541:p.Glu948*	HNSCC(8;0.001)					p.E948*	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	18	2917	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	948			EGF-like 25; calcium-binding (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.2842G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	43	9.847301	0.99279	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	16.2289	0.82318	0.0:1.0:0.0:0.0	.	.	.	.	X	948	.	ENSP00000277541:E948X	E	-	1	0	NOTCH1	138524133	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.649000	0.83500	2.151000	0.67156	0.655000	0.94253	GAG		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		51	115	1	0	1.86277e-20	1	2.04599e-20	51	115				
DHRS7C	201140	broad.mit.edu	37	17	9680514	9680514	+	Silent	SNP	C	C	T	rs189185643	byFrequency	TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr17:9680514C>T	ENST00000330255.5	-	4	582	c.570G>A	c.(568-570)acG>acA	p.T190T	DHRS7C_ENST00000571134.1_Silent_p.T189T	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	190					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ACTTACAAGTCGTACGGAACG	0.423													C|||	7	0.00139776	0.0	0.0014	5008	,	,		21685	0.0		0.005	False		,,,				2504	0.001					ENST00000330255.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(568-570)acG>acA		dehydrogenase/reductase (SDR family) member 7C		C	,	5,3771		0,5,1883	106.0	99.0	101.0		567,570	-3.6	0.8	17		101	50,8178		0,50,4064	no	coding-synonymous,coding-synonymous	DHRS7C	NM_001105571.2,NM_001220493.1	,	0,55,5947	TT,TC,CC		0.6077,0.1324,0.4582	,	189/312,190/313	9680514	55,11949	1888	4114	6002	SO:0001819	synonymous_variant	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9680514C>T		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.570G>A	17.37:g.9680514C>T						DHRS7C_ENST00000571134.1_Silent_p.T189T	p.T190T	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN			4	582	-			190					B7ZW74|B9EJH3	Silent	SNP	ENST00000330255.5	37	c.570G>A	CCDS56020.1																																																																																				0.423	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		4	28	0	0	0	1	0	4	28				
RTCA	8634	broad.mit.edu	37	1	100741195	100741195	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:100741195G>A	ENST00000370128.4	+	7	825	c.656G>A	c.(655-657)aGa>aAa	p.R219K	RTCA_ENST00000260563.4_Missense_Mutation_p.R232K	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	219					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)										AGATGCATCAGAAAGGAGATC	0.353																																						ENST00000370128.4																			0											c.(655-657)aGa>aAa		RNA 3'-terminal phosphate cyclase							91.0	96.0	94.0					1																	100741195		2203	4300	6503	SO:0001583	missense	8634				RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	g.chr1:100741195G>A	Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.656G>A	1.37:g.100741195G>A	ENSP00000359146:p.Arg219Lys					RTCA_ENST00000260563.4_Missense_Mutation_p.R232K	p.R219K	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN			7	825	+			219					Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	c.656G>A	CCDS768.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054411	0.55218	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.5	5.5	0.81552	-terminal phosphate cyclase, subset, insert domain (2);-terminal phosphate cyclase, insert domain (1);-terminal phosphate cyclase domain (1);RNA 3&apos (6);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	L	0.28740	0.885	0.80722	D	1	B;B	0.18166	0.019;0.026	B;B	0.18871	0.023;0.017	T	0.40459	-0.9562	9	0.05620	T	0.96	-19.8622	19.4121	0.94679	0.0:0.0:1.0:0.0	.	232;219	O00442-2;O00442	.;RTC1_HUMAN	K	219;232	.	ENSP00000260563:R232K	R	+	2	0	RTCD1	100513783	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	9.209000	0.95087	2.603000	0.88011	0.655000	0.94253	AGA		0.353	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2			24	39	0	0	0	1	0	24	39				
SCNN1G	6340	broad.mit.edu	37	16	23200873	23200873	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr16:23200873G>C	ENST00000300061.2	+	3	642	c.499G>C	c.(499-501)Gag>Cag	p.E167Q		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	167					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGATCAGGATGAGAAGGGCAA	0.562																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(499-501)Gag>Cag		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						165.0	168.0	167.0					16																	23200873		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23200873G>C	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.499G>C	16.37:g.23200873G>C	ENSP00000300061:p.Glu167Gln						p.E167Q	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	3	642	+			167					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.499G>C	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	1.835	-0.468885	0.04445	.	.	ENSG00000166828	ENST00000300061	T	0.71341	-0.56	5.75	5.75	0.90469	.	1.186810	0.05952	N	0.639059	T	0.52629	0.1746	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.18871	0.023	T	0.36089	-0.9762	10	0.24483	T	0.36	-9.1058	8.4946	0.33121	0.0808:0.1552:0.764:0.0	.	167	P51170	SCNNG_HUMAN	Q	167	ENSP00000300061:E167Q	ENSP00000300061:E167Q	E	+	1	0	SCNN1G	23108374	0.970000	0.33590	0.210000	0.23637	0.060000	0.15804	2.372000	0.44257	2.721000	0.93114	0.511000	0.50034	GAG		0.562	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		25	254	0	0	0	1	0	25	254				
CNGB1	1258	broad.mit.edu	37	16	57992361	57992361	+	Missense_Mutation	SNP	C	C	G	rs200430392		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr16:57992361C>G	ENST00000251102.8	-	11	850	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	CNGB1_ENST00000311183.4_Missense_Mutation_p.E264Q|CNGB1_ENST00000564448.1_Missense_Mutation_p.E258Q	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	264					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AAGGCCATCTCCAGCCTGTGC	0.622																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(772-774)Gag>Cag		cyclic nucleotide gated channel beta 1							66.0	81.0	76.0					16																	57992361		2138	4250	6388	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57992361C>G	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.790G>C	16.37:g.57992361C>G	ENSP00000251102:p.Glu264Gln					CNGB1_ENST00000251102.8_Missense_Mutation_p.E264Q|CNGB1_ENST00000311183.4_Missense_Mutation_p.E264Q	p.E258Q			Q14028	CNGB1_HUMAN			11	832	-			264					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.772G>C	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243474	0.58995	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.98455	-4.94;0.3	4.14	2.16	0.27623	.	0.186469	0.26130	N	0.026173	D	0.96531	0.8868	L	0.55990	1.75	0.21984	N	0.999432	P;B	0.46142	0.873;0.416	P;B	0.47299	0.543;0.064	D	0.92489	0.5999	10	0.87932	D	0	.	5.7336	0.18053	0.0:0.6957:0.1981:0.1061	.	264;264	Q14028-3;Q14028	.;CNGB1_HUMAN	Q	264	ENSP00000251102:E264Q;ENSP00000311670:E264Q	ENSP00000251102:E264Q	E	-	1	0	CNGB1	56549862	1.000000	0.71417	0.998000	0.56505	0.727000	0.41649	1.018000	0.30002	0.678000	0.31325	0.655000	0.94253	GAG		0.622	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		11	60	0	0	0	1	0	11	60				
TTN	7273	broad.mit.edu	37	2	179482515	179482515	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:179482515C>T	ENST00000591111.1	-	203	42864	c.42640G>A	c.(42640-42642)Gat>Aat	p.D14214N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D6915N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D15855N|TTN_ENST00000342992.6_Missense_Mutation_p.D13287N|TTN_ENST00000460472.2_Missense_Mutation_p.D6790N|TTN_ENST00000342175.6_Missense_Mutation_p.D6982N|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14214	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAATTGGATCAGCAACTTTG	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(47563-47565)Gat>Aat		titin							128.0	119.0	122.0					2																	179482515		1917	4121	6038	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482515C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42640G>A	2.37:g.179482515C>T	ENSP00000465570:p.Asp14214Asn					TTN_ENST00000359218.5_Missense_Mutation_p.D6915N|TTN_ENST00000342175.6_Missense_Mutation_p.D6982N|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D13287N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D6790N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14214N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.D15855N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	47787	-			14214			Fibronectin type-III 15.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.47563G>A		.	.	.	.	.	.	.	.	.	.	C	14.10	2.434041	0.43224	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.84	4.96	0.65561	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41627	0.1167	M	0.61703	1.905	0.80722	D	1	B;B;B;B	0.30664	0.289;0.289;0.289;0.289	B;B;B;B	0.23716	0.048;0.048;0.048;0.048	T	0.42032	-0.9475	9	0.87932	D	0	.	14.8579	0.70355	0.0:0.9315:0.0:0.0685	.	6790;6915;6982;14214	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	13287;6790;6982;6915;6790	ENSP00000343764:D13287N;ENSP00000434586:D6790N;ENSP00000340554:D6982N;ENSP00000352154:D6915N	ENSP00000340554:D6982N	D	-	1	0	TTN	179190760	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	4.944000	0.63561	1.494000	0.48533	0.655000	0.94253	GAT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	75	0	0	0	1	0	19	75				
PTK2	5747	broad.mit.edu	37	8	141685543	141685543	+	Intron	SNP	T	T	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:141685543T>A	ENST00000522684.1	-	28	2832				PTK2_ENST00000519419.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000395218.2_Missense_Mutation_p.N873I|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000430260.2_Intron|PTK2_ENST00000340930.3_Missense_Mutation_p.N873I|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000519465.1_Intron	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTCCGCCCAATTCTTTTCTTC	0.363																																						ENST00000395218.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(2617-2619)aAt>aTt		protein tyrosine kinase 2							182.0	157.0	166.0					8																	141685543		2203	4300	6503	SO:0001627	intron_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141685543T>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2602+15A>T	8.37:g.141685543T>A						PTK2_ENST00000430260.2_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000340930.3_Missense_Mutation_p.N873I|PTK2_ENST00000519465.1_Intron|PTK2_ENST00000519419.1_Intron	p.N873I			Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		28	2847	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	867			Interaction with TGFB1I1.|Pro-rich.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.2618A>T	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	T	9.069	0.996329	0.19043	.	.	ENSG00000169398	ENST00000395218;ENST00000340930	T;T	0.75367	-0.91;-0.93	1.62	0.419	0.16438	.	.	.	.	.	T	0.49047	0.1534	.	.	.	0.09310	N	1	B	0.31910	0.346	B	0.19148	0.024	T	0.25293	-1.0136	8	0.23302	T	0.38	.	3.5312	0.07777	0.0:0.6181:0.0:0.3819	.	873	B4E2N6	.	I	873	ENSP00000378644:N873I;ENSP00000341189:N873I	ENSP00000341189:N873I	N	-	2	0	PTK2	141754725	0.000000	0.05858	0.025000	0.17156	0.316000	0.28119	-0.928000	0.03980	0.092000	0.17331	0.533000	0.62120	AAT		0.363	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		4	23	0	0	0	1	0	4	23				
C6	729	broad.mit.edu	37	5	41159288	41159288	+	Silent	SNP	C	C	A	rs369711642		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr5:41159288C>A	ENST00000263413.3	-	12	2016	c.1752G>T	c.(1750-1752)tcG>tcT	p.S584S	C6_ENST00000337836.5_Silent_p.S584S|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	584	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTCGGGTTCTCGATCTCTTAT	0.498																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1750-1752)tcG>tcT		complement component 6							96.0	101.0	99.0					5																	41159288		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159288C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1752G>T	5.37:g.41159288C>A						C6_ENST00000337836.5_Silent_p.S584S	p.S584S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			12	2016	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	584			TSP type-1 3.			Silent	SNP	ENST00000263413.3	37	c.1752G>T	CCDS3936.1																																																																																				0.498	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			37	69	1	0	1.90571e-15	1	2.07614e-15	37	69				
DNAH8	1769	broad.mit.edu	37	6	38905899	38905899	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:38905899G>A	ENST00000359357.3	+	76	11316	c.11062G>A	c.(11062-11064)Gga>Aga	p.G3688R	DNAH8_ENST00000441566.1_Missense_Mutation_p.G3652R|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.G3905R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3688					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGCCACCCGCGGAAGCATCCT	0.522																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(11062-11064)Gga>Aga		dynein, axonemal, heavy chain 8							98.0	83.0	88.0					6																	38905899		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38905899G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11062G>A	6.37:g.38905899G>A	ENSP00000352312:p.Gly3688Arg					DNAH8_ENST00000441566.1_Missense_Mutation_p.G3652R|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.G3905R	p.G3688R							76	11316	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11062G>A		.	.	.	.	.	.	.	.	.	.	G	25.0	4.593598	0.86953	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.54675	0.56;0.56;0.56	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.84170	0.5413	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90311	0.4337	10	0.87932	D	0	.	20.0016	0.97412	0.0:0.0:1.0:0.0	.	3652;3688	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	R	3893;3893;3688;3652	ENSP00000333363:G3893R;ENSP00000352312:G3688R;ENSP00000402294:G3652R	ENSP00000333363:G3893R	G	+	1	0	DNAH8	39013877	1.000000	0.71417	0.192000	0.23308	0.640000	0.38277	9.813000	0.99286	2.802000	0.96397	0.655000	0.94253	GGA		0.522	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		12	64	0	0	0	1	0	12	64				
HOXC8	3224	broad.mit.edu	37	12	54403466	54403466	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr12:54403466C>T	ENST00000040584.4	+	1	635	c.398C>T	c.(397-399)tCg>tTg	p.S133L	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	133					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						AATCAAAACTCGTCTCCCAGC	0.557																																					GBM(197;701 2226 7002 18822 41696)	ENST00000040584.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						c.(397-399)tCg>tTg		homeobox C8							137.0	132.0	133.0					12																	54403466		2203	4300	6503	SO:0001583	missense	3224					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54403466C>T	X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.398C>T	12.37:g.54403466C>T	ENSP00000040584:p.Ser133Leu						p.S133L	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN			1	635	+			133					A8K4J4|O15221|O15362	Missense_Mutation	SNP	ENST00000040584.4	37	c.398C>T	CCDS8870.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641447	0.67244	.	.	ENSG00000037965	ENST00000040584	T	0.45668	0.89	4.01	4.01	0.46588	Homeodomain-like (1);	0.154928	0.43919	D	0.000518	T	0.34424	0.0897	M	0.63843	1.955	0.58432	D	0.999997	P	0.44006	0.824	B	0.25140	0.058	T	0.49143	-0.8970	10	0.51188	T	0.08	.	15.4245	0.75041	0.0:1.0:0.0:0.0	.	133	P31273	HXC8_HUMAN	L	133	ENSP00000040584:S133L	ENSP00000040584:S133L	S	+	2	0	HOXC8	52689733	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.620000	0.83070	2.254000	0.74563	0.462000	0.41574	TCG		0.557	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2			13	208	0	0	0	1	0	13	208				
AMOTL1	154810	broad.mit.edu	37	11	94554915	94554915	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:94554915A>G	ENST00000433060.2	+	4	1482	c.1341A>G	c.(1339-1341)atA>atG	p.I447M	AMOTL1_ENST00000317829.8_Missense_Mutation_p.I397M|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000539727.1_3'UTR	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	447					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGGTGGAGATATTAACAGAGG	0.602																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(1339-1341)atA>atG		angiomotin like 1							83.0	87.0	86.0					11																	94554915		1969	4168	6137	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94554915A>G	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1341A>G	11.37:g.94554915A>G	ENSP00000387739:p.Ile447Met					AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.I397M|AMOTL1_ENST00000539727.1_3'UTR	p.I447M	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			4	1482	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	447					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.1341A>G	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.947471	0.34377	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	T;T	0.18174	2.23;2.23	5.68	-3.93	0.04143	.	0.132311	0.52532	D	0.000074	T	0.08447	0.0210	N	0.12182	0.205	0.80722	D	1	B;B	0.18610	0.02;0.029	B;B	0.21708	0.036;0.01	T	0.12734	-1.0536	10	0.42905	T	0.14	-28.5946	12.5102	0.56002	0.1995:0.7112:0.0892:0.0	.	397;447	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	M	397;453;447	ENSP00000320968:I397M;ENSP00000387739:I447M	ENSP00000320968:I397M	I	+	3	3	AMOTL1	94194563	0.834000	0.29399	0.498000	0.27564	0.941000	0.58515	-0.059000	0.11731	-0.333000	0.08476	0.459000	0.35465	ATA		0.602	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		9	87	0	0	0	1	0	9	87				
OR2B3	442184	broad.mit.edu	37	6	29054606	29054606	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:29054606G>A	ENST00000377173.2	-	1	484	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TCCTTAGGCAGAACCAATAAT	0.488																																						ENST00000377173.2																			0				breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						c.(418-420)ttC>ttT		olfactory receptor, family 2, subfamily B, member 3							69.0	66.0	67.0					6																	29054606		2203	4300	6503	SO:0001819	synonymous_variant	442184							g.chr6:29054606G>A		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.420C>T	6.37:g.29054606G>A							p.F140F	NM_001005226.2	NP_001005226.1					1	484	-								B0UYQ1|Q5ST41|Q96R13	Silent	SNP	ENST00000377173.2	37	c.420C>T	CCDS34358.1																																																																																				0.488	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			17	59	0	0	0	1	0	17	59				
IL1RAP	3556	broad.mit.edu	37	3	190362143	190362143	+	Silent	SNP	C	C	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:190362143C>G	ENST00000412504.2	+	9	1410	c.1158C>G	c.(1156-1158)gtC>gtG	p.V386V	IL1RAP_ENST00000072516.3_Silent_p.V386V|IL1RAP_ENST00000447382.1_Silent_p.V386V|IL1RAP_ENST00000317757.3_Silent_p.V386V|IL1RAP_ENST00000439062.1_Silent_p.V386V|RN7SKP296_ENST00000411185.1_RNA|IL1RAP_ENST00000443369.2_Silent_p.V386V			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	386					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TAGAGATGGTCCTATTTTACC	0.398																																						ENST00000412504.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1156-1158)gtC>gtG		interleukin 1 receptor accessory protein							151.0	127.0	135.0					3																	190362143		2202	4300	6502	SO:0001819	synonymous_variant	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190362143C>G	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1158C>G	3.37:g.190362143C>G						IL1RAP_ENST00000072516.3_Silent_p.V386V|IL1RAP_ENST00000447382.1_Silent_p.V386V|IL1RAP_ENST00000317757.3_Silent_p.V386V|IL1RAP_ENST00000443369.2_Silent_p.V386V|IL1RAP_ENST00000439062.1_Silent_p.V386V	p.V386V			Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	9	1410	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		386					B1NLD0|D3DNW0|O14915|Q86WJ7	Silent	SNP	ENST00000412504.2	37	c.1158C>G	CCDS3298.1																																																																																				0.398	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			4	45	0	0	0	1	0	4	45				
PIWIL2	55124	broad.mit.edu	37	8	22213004	22213004	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:22213004C>G	ENST00000454009.2	+	23	3417	c.2908C>G	c.(2908-2910)Ctg>Gtg	p.L970V	PIWIL2_ENST00000356766.6_Missense_Mutation_p.L970V|PIWIL2_ENST00000521356.1_Missense_Mutation_p.L934V	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	970					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GTGCGAGAACCTGTTCTTCCT	0.517																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2908-2910)Ctg>Gtg		piwi-like RNA-mediated gene silencing 2							96.0	80.0	85.0					8																	22213004		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22213004C>G	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2908C>G	8.37:g.22213004C>G	ENSP00000406956:p.Leu970Val					PIWIL2_ENST00000521356.1_Missense_Mutation_p.L934V|PIWIL2_ENST00000454009.2_Missense_Mutation_p.L970V	p.L970V	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	23	3056	+			970					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2908C>G	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297344	0.81025	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.19938	2.11;2.11;2.11	5.76	4.89	0.63831	Ribonuclease H-like (1);	0.131306	0.52532	D	0.000073	T	0.61426	0.2346	H	0.97732	4.065	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.75850	-0.3172	10	0.72032	D	0.01	-21.7681	13.7056	0.62636	0.0:0.925:0.0:0.075	.	934;970	E7ECA4;Q8TC59	.;PIWL2_HUMAN	V	970;934;970	ENSP00000349208:L970V;ENSP00000428267:L934V;ENSP00000406956:L970V	ENSP00000349208:L970V	L	+	1	2	PIWIL2	22268949	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.950000	0.56676	1.445000	0.47624	-0.142000	0.14014	CTG		0.517	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			10	40	0	0	0	1	0	10	40				
LRRC23	10233	broad.mit.edu	37	12	7014828	7014828	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr12:7014828G>C	ENST00000007969.8	+	2	251	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	LRRC23_ENST00000436789.1_Missense_Mutation_p.E11Q|LRRC23_ENST00000443597.2_Missense_Mutation_p.E11Q|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000433346.1_Missense_Mutation_p.E11Q|LRRC23_ENST00000323702.5_Missense_Mutation_p.E11Q|LRRC23_ENST00000429740.1_Missense_Mutation_p.E11Q	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	11										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AGAAGACTCTGAGCCAGACCA	0.488																																						ENST00000007969.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						c.(31-33)Gag>Cag		leucine rich repeat containing 23							73.0	77.0	75.0					12																	7014828		2203	4300	6503	SO:0001583	missense	10233							g.chr12:7014828G>C	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.31G>C	12.37:g.7014828G>C	ENSP00000007969:p.Glu11Gln					LRRC23_ENST00000443597.2_Missense_Mutation_p.E11Q|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000436789.1_Missense_Mutation_p.E11Q|LRRC23_ENST00000429740.1_Missense_Mutation_p.E11Q|LRRC23_ENST00000433346.1_Missense_Mutation_p.E11Q|LRRC23_ENST00000323702.5_Missense_Mutation_p.E11Q	p.E11Q	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN			2	251	+			11					A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	c.31G>C	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390928	0.42410	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000415834;ENST00000436789;ENST00000429740	T;T;T;T;T;T;T	0.70986	1.58;-0.2;-0.53;-0.2;0.69;1.64;1.03	4.74	4.74	0.60224	.	.	.	.	.	T	0.76681	0.4021	L	0.56769	1.78	0.30089	N	0.808476	D;D;P;P	0.55385	0.971;0.971;0.629;0.856	P;P;B;B	0.55455	0.714;0.776;0.309;0.425	T	0.73455	-0.3977	9	0.44086	T	0.13	-6.9725	13.0943	0.59182	0.0:0.0:1.0:0.0	.	11;11;11;11	E9PDZ4;Q53EV4-2;Q53EV4;C9JKE8	.;.;LRC23_HUMAN;.	Q	11	ENSP00000402554:E11Q;ENSP00000007969:E11Q;ENSP00000317464:E11Q;ENSP00000390932:E11Q;ENSP00000408066:E11Q;ENSP00000396049:E11Q;ENSP00000397192:E11Q	ENSP00000007969:E11Q	E	+	1	0	LRRC23	6885089	0.071000	0.21146	0.896000	0.35187	0.346000	0.29079	0.930000	0.28858	2.452000	0.82932	0.561000	0.74099	GAG		0.488	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		14	73	0	0	0	1	0	14	73				
KRT32	3882	broad.mit.edu	37	17	39616419	39616419	+	Silent	SNP	G	G	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr17:39616419G>C	ENST00000225899.3	-	7	1393	c.1290C>G	c.(1288-1290)gtC>gtG	p.V430V		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	430	Tail.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GTGGCACACAGACGGTGCGGG	0.637																																						ENST00000225899.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1288-1290)gtC>gtG		keratin 32							75.0	55.0	62.0					17																	39616419		2203	4299	6502	SO:0001819	synonymous_variant	3882				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39616419G>C	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1290C>G	17.37:g.39616419G>C							p.V430V	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN			7	1393	-		Breast(137;0.000812)	430			Tail.			Silent	SNP	ENST00000225899.3	37	c.1290C>G	CCDS11393.1																																																																																				0.637	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		8	30	0	0	0	1	0	8	30				
RUNX2	860	broad.mit.edu	37	6	45480097	45480097	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:45480097G>A	ENST00000371438.1	+	6	1332	c.974G>A	c.(973-975)cGg>cAg	p.R325Q	RUNX2_ENST00000541979.1_Missense_Mutation_p.R393Q|RUNX2_ENST00000352853.5_Missense_Mutation_p.R393Q|RUNX2_ENST00000359524.5_Missense_Mutation_p.R311Q|RUNX2_ENST00000576263.1_Missense_Mutation_p.R325Q|RUNX2_ENST00000371436.6_Missense_Mutation_p.R325Q|RUNX2_ENST00000371432.3_Missense_Mutation_p.R311Q|RUNX2_ENST00000465038.2_Missense_Mutation_p.R325Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	325	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCTTCCACACGGGGCACTGGG	0.592																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(973-975)cGg>cAg		runt-related transcription factor 2							118.0	96.0	104.0					6																	45480097		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45480097G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.974G>A	6.37:g.45480097G>A	ENSP00000360493:p.Arg325Gln					RUNX2_ENST00000541979.1_Missense_Mutation_p.R393Q|RUNX2_ENST00000359524.5_Missense_Mutation_p.R311Q|RUNX2_ENST00000371432.3_Missense_Mutation_p.R311Q|RUNX2_ENST00000465038.2_Missense_Mutation_p.R325Q|RUNX2_ENST00000371436.6_Missense_Mutation_p.R325Q|RUNX2_ENST00000576263.1_Missense_Mutation_p.R325Q|RUNX2_ENST00000352853.5_Missense_Mutation_p.R393Q	p.R325Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			6	1332	+			325			Pro/Ser/Thr-rich.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.974G>A	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	G	36	5.756204	0.96898	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	5.92	5.92	0.95590	.	0.062929	0.64402	D	0.000001	D	0.93871	0.8039	M	0.77103	2.36	0.80722	D	1	D;D;D	0.69078	0.987;0.985;0.997	P;P;P	0.57548	0.598;0.563;0.823	D	0.93039	0.6455	10	0.52906	T	0.07	-9.5792	20.3172	0.98658	0.0:0.0:1.0:0.0	.	393;325;311	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	Q	325;393;393;325;325;311;311	ENSP00000420707:R325Q;ENSP00000319087:R393Q;ENSP00000446290:R393Q;ENSP00000360493:R325Q;ENSP00000360491:R325Q;ENSP00000352514:R311Q;ENSP00000360486:R311Q	ENSP00000319087:R393Q	R	+	2	0	RUNX2	45588075	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.422000	0.97458	2.801000	0.96364	0.650000	0.86243	CGG		0.592	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		20	100	0	0	0	1	0	20	100				
DZIP3	9666	broad.mit.edu	37	3	108355486	108355486	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:108355486G>C	ENST00000361582.3	+	11	1172	c.942G>C	c.(940-942)ttG>ttC	p.L314F	DZIP3_ENST00000463306.1_Missense_Mutation_p.L314F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	314					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAAAATGTTTGAAGGAAGGAT	0.269																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(940-942)ttG>ttC		DAZ interacting zinc finger protein 3							191.0	183.0	186.0					3																	108355486		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108355486G>C	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.942G>C	3.37:g.108355486G>C	ENSP00000355028:p.Leu314Phe					DZIP3_ENST00000463306.1_Missense_Mutation_p.L314F	p.L314F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			11	1172	+			314					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.942G>C	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886544	0.51908	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.47869	0.83;0.83;0.83	4.88	3.09	0.35607	.	0.000000	0.42964	D	0.000623	T	0.47525	0.1450	N	0.19112	0.55	0.31508	N	0.6639	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.996	T	0.50083	-0.8869	10	0.34782	T	0.22	-7.0418	7.3495	0.26682	0.198:0.0:0.802:0.0	.	314;314	C9J9M8;Q86Y13	.;DZIP3_HUMAN	F	314	ENSP00000355028:L314F;ENSP00000418115:L314F;ENSP00000419981:L314F	ENSP00000355028:L314F	L	+	3	2	DZIP3	109838176	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.924000	0.40065	0.651000	0.30788	0.650000	0.86243	TTG		0.269	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		12	72	0	0	0	1	0	12	72				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	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)	p.H4205Q(10)		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)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	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.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	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.chr3:195505836G>C	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.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	p.H4205Q	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	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					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.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	1	0	0	0	1	0	2	1				
DHX40	79665	broad.mit.edu	37	17	57643053	57643053	+	Silent	SNP	C	C	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr17:57643053C>G	ENST00000251241.4	+	1	168	c.21C>G	c.(19-21)gtC>gtG	p.V7V	DHX40_ENST00000451169.2_5'UTR|DHX40_ENST00000425628.3_Silent_p.V7V	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	7							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTCCCGCAGTCGCGGGCAGGG	0.662																																						ENST00000251241.4																			0				endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.(19-21)gtC>gtG		DEAH (Asp-Glu-Ala-His) box polypeptide 40							29.0	33.0	32.0					17																	57643053		2202	4300	6502	SO:0001819	synonymous_variant	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57643053C>G	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.21C>G	17.37:g.57643053C>G						DHX40_ENST00000425628.3_Silent_p.V7V|DHX40_ENST00000451169.2_5'UTR	p.V7V	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN			1	168	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		7					B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Silent	SNP	ENST00000251241.4	37	c.21C>G	CCDS11617.1																																																																																				0.662	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		4	31	0	0	0	1	0	4	31				
USE1	55850	broad.mit.edu	37	19	17327091	17327091	+	Silent	SNP	G	G	A	rs201300912		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr19:17327091G>A	ENST00000263897.5	+	4	392	c.345G>A	c.(343-345)gcG>gcA	p.A115A	USE1_ENST00000379776.4_Silent_p.A115A|USE1_ENST00000596136.1_Silent_p.A115A|USE1_ENST00000595101.1_Silent_p.A115A|USE1_ENST00000445667.2_Silent_p.A115A	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	115					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						AGTCACGGGCGCGGTACACCA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18743	0.001		0.0	False		,,,				2504	0.0					ENST00000595101.1																			0				breast(2)|endometrium(1)|lung(3)	6						c.(343-345)gcG>gcA		unconventional SNARE in the ER 1 homolog (S. cerevisiae)							56.0	60.0	59.0					19																	17327091		2062	4203	6265	SO:0001819	synonymous_variant	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17327091G>A	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"""Q-SNARE"", ""SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"""	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.345G>A	19.37:g.17327091G>A						USE1_ENST00000445667.2_Silent_p.A115A|USE1_ENST00000263897.5_Silent_p.A115A|USE1_ENST00000379776.4_Silent_p.A115A|USE1_ENST00000596136.1_Silent_p.A115A	p.A115A			Q9NZ43	USE1_HUMAN			4	363	+			115					Q8NCK1|Q9BRT4	Silent	SNP	ENST00000263897.5	37	c.345G>A	CCDS46011.1																																																																																				0.612	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467		24	56	0	0	0	1	0	24	56				
MGA	23269	broad.mit.edu	37	15	42041118	42041118	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr15:42041118G>A	ENST00000570161.1	+	15	5496	c.5496G>A	c.(5494-5496)cgG>cgA	p.R1832R	MGA_ENST00000545763.1_Silent_p.R1623R|MGA_ENST00000566586.1_Silent_p.R1623R|MGA_ENST00000389936.4_Silent_p.R1793R|MGA_ENST00000219905.7_Silent_p.R1832R			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCATGTTTCGGAACCCAGGTA	0.398																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5494-5496)cgG>cgA		MGA, MAX dimerization protein							85.0	80.0	81.0					15																	42041118		1868	4106	5974	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041118G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5496G>A	15.37:g.42041118G>A						MGA_ENST00000570161.1_Silent_p.R1832R|MGA_ENST00000389936.4_Silent_p.R1793R|MGA_ENST00000566586.1_Silent_p.R1623R|MGA_ENST00000545763.1_Silent_p.R1623R	p.R1832R	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	16	5677	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1793					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.5496G>A	CCDS55959.1																																																																																				0.398	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		11	67	0	0	0	1	0	11	67				
BCORL1	63035	broad.mit.edu	37	X	129147516	129147516	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chrX:129147516G>A	ENST00000218147.7	+	4	965	c.768G>A	c.(766-768)ccG>ccA	p.P256P	BCORL1_ENST00000303743.5_Silent_p.P256P|BCORL1_ENST00000359304.2_Silent_p.P256P|BCORL1_ENST00000540052.1_Silent_p.P256P			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	256	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACCTGTCCCGGCTCTGGCTC	0.622																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(766-768)ccG>ccA		BCL6 corepressor-like 1							125.0	112.0	116.0					X																	129147516		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147516G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.768G>A	X.37:g.129147516G>A						BCORL1_ENST00000303743.5_Silent_p.P256P|BCORL1_ENST00000359304.2_Silent_p.P256P|BCORL1_ENST00000218147.7_Silent_p.P256P	p.P256P	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	812	+			256			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.768G>A	CCDS14616.1																																																																																				0.622	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		24	226	0	0	0	1	0	24	226				
ZNF831	128611	broad.mit.edu	37	20	57767475	57767475	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr20:57767475G>A	ENST00000371030.2	+	1	1401	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	467							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGAGGGCCCCGGGCCCCGTGC	0.662																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1399-1401)ccG>ccA		zinc finger protein 831							33.0	40.0	37.0					20																	57767475		2000	4160	6160	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767475G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1401G>A	20.37:g.57767475G>A							p.P467P	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1401	+	all_lung(29;0.0085)		467					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1401G>A	CCDS42894.1																																																																																				0.662	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		6	72	0	0	0	1	0	6	72				
VRK2	7444	broad.mit.edu	37	2	58362327	58362327	+	Silent	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:58362327C>T	ENST00000435505.2	+	13	1594	c.849C>T	c.(847-849)agC>agT	p.S283S	VRK2_ENST00000440705.2_Silent_p.S260S|VRK2_ENST00000412104.2_Silent_p.S283S|VRK2_ENST00000417641.2_Silent_p.S283S|VRK2_ENST00000340157.4_Silent_p.S283S			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CTTCTGGAAGCAGTTGCTGTA	0.413																																						ENST00000435505.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						c.(847-849)agC>agT		vaccinia related kinase 2							189.0	178.0	182.0					2																	58362327		2203	4300	6503	SO:0001819	synonymous_variant	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58362327C>T	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.849C>T	2.37:g.58362327C>T						VRK2_ENST00000417641.2_Silent_p.S283S|VRK2_ENST00000340157.4_Silent_p.S283S|VRK2_ENST00000440705.2_Silent_p.S260S|VRK2_ENST00000412104.2_Silent_p.S283S	p.S283S			Q86Y07	VRK2_HUMAN			13	1594	+			283			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Silent	SNP	ENST00000435505.2	37	c.849C>T	CCDS1859.1																																																																																				0.413	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		22	121	0	0	0	1	0	22	121				
ANKRD19P	138649	broad.mit.edu	37	9	95599380	95599380	+	RNA	SNP	C	C	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr9:95599380C>A	ENST00000473204.1	+	0	1461							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											GCCACCAGTTCAGGCTTCTTG	0.592																																						ENST00000473204.1																			0																																																			138649							g.chr9:95599380C>A	BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599380C>A														0	1461	+								A8K853|Q17RD3	RNA	SNP	ENST00000473204.1	37																																																																																						0.592	ANKRD19P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053116.3	NR_026868		9	54	1	0	2.17888e-05	1	2.26333e-05	9	54				
CLDN25	644672	broad.mit.edu	37	11	113650687	113650687	+	Missense_Mutation	SNP	G	G	A	rs371445026		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:113650687G>A	ENST00000453129.2	+	1	219	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TGCGTGGATCGAGAGGAAGTC	0.562																																						ENST00000453129.2																			0				large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						c.(169-171)cGa>cAa		claudin 25		G	GLN/ARG	0,4400		0,0,2200	84.0	94.0	91.0		170	3.7	0.9	11		91	1,8589	1.2+/-3.3	0,1,4294	no	missense	CLDN25	NM_001101389.1	43	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign	57/230	113650687	1,12989	2200	4295	6495	SO:0001583	missense	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650687G>A		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.170G>A	11.37:g.113650687G>A	ENSP00000396304:p.Arg57Gln						p.R57Q	NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN			1	219	+			57						Missense_Mutation	SNP	ENST00000453129.2	37	c.170G>A	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	G	1.624	-0.520677	0.04171	0.0	1.16E-4	ENSG00000228607	ENST00000453129	D	0.87809	-2.3	4.91	3.7	0.42460	.	.	.	.	.	T	0.47525	0.1450	N	0.00020	-2.78	0.24516	N	0.994182	B	0.12013	0.005	B	0.08055	0.003	T	0.53279	-0.8461	9	0.02654	T	1	.	9.7954	0.40731	0.9181:0.0:0.0819:0.0	.	57	C9JDP6	CLD25_HUMAN	Q	57	ENSP00000396304:R57Q	ENSP00000396304:R57Q	R	+	2	0	CLDN25	113155897	0.465000	0.25815	0.890000	0.34922	0.452000	0.32318	0.990000	0.29642	0.894000	0.36317	-0.299000	0.09455	CGA		0.562	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		13	150	0	0	0	1	0	13	150				
NBEAL1	65065	broad.mit.edu	37	2	204039938	204039938	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:204039938C>T	ENST00000449802.1	+	41	6638	c.6305C>T	c.(6304-6306)tCt>tTt	p.S2102F		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2102	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TATTCAAATTCTGCGGGGGTC	0.378																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(6304-6306)tCt>tTt		neurobeachin-like 1							102.0	101.0	101.0					2																	204039938		1851	4085	5936	SO:0001583	missense	65065						binding	g.chr2:204039938C>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6305C>T	2.37:g.204039938C>T	ENSP00000399903:p.Ser2102Phe						p.S2102F	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			41	6638	+			2102			BEACH.		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.6305C>T	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432580	0.96150	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.81078	-1.45;-1.45	5.92	5.92	0.95590	BEACH domain (4);	0.157478	0.56097	D	0.000031	D	0.87245	0.6129	L	0.56199	1.76	0.58432	D	0.999998	D;D	0.55800	0.973;0.973	P;P	0.60682	0.878;0.878	D	0.87393	0.2364	10	0.87932	D	0	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	2102;2091	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	F	2102;2102;117	ENSP00000399903:S2102F;ENSP00000388466:S117F	ENSP00000344985:S2102F	S	+	2	0	NBEAL1	203748183	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.794000	0.96219	0.650000	0.86243	TCT		0.378	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			8	55	0	0	0	1	0	8	55				
CA3	761	broad.mit.edu	37	8	86360302	86360302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:86360302G>T	ENST00000285381.2	+	7	786	c.703G>T	c.(703-705)Gag>Tag	p.E235*	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	235					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	TGCTGAGAACGAGCCCCCAGT	0.557																																						ENST00000285381.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(703-705)Gag>Tag		carbonic anhydrase III, muscle specific							60.0	51.0	54.0					8																	86360302		2203	4300	6503	SO:0001587	stop_gained	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86360302G>T	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.703G>T	8.37:g.86360302G>T	ENSP00000285381:p.Glu235*					RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	p.E235*	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN			7	786	+			235					B2R867|B3KUC8|O60842	Nonsense_Mutation	SNP	ENST00000285381.2	37	c.703G>T	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438851	0.96168	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	.	.	.	5.5	5.5	0.81552	.	0.190556	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-33.9666	16.884	0.86071	0.0:0.0:1.0:0.0	.	.	.	.	X	235;219	.	ENSP00000285381:E235X	E	+	1	0	CA3	86547554	1.000000	0.71417	0.992000	0.48379	0.874000	0.50279	6.313000	0.72844	2.586000	0.87340	0.561000	0.74099	GAG		0.557	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		7	45	1	0	8.12818e-05	1	8.31433e-05	7	45				
MEX3D	399664	broad.mit.edu	37	19	1556649	1556649	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr19:1556649C>T	ENST00000402693.4	-	2	868	c.869G>A	c.(868-870)gGg>gAg	p.G290E	MEX3D_ENST00000388824.6_Missense_Mutation_p.G290E|AC027307.1_ENST00000410788.1_RNA|AC027307.2_ENST00000581992.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	290	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTTGGGCCCCACCACCAG	0.726																																						ENST00000402693.4																			0				endometrium(1)|lung(3)	4						c.(868-870)gGg>gAg		mex-3 RNA binding family member D							19.0	22.0	21.0					19																	1556649		2193	4295	6488	SO:0001583	missense	399664				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding	g.chr19:1556649C>T	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.869G>A	19.37:g.1556649C>T	ENSP00000384398:p.Gly290Glu					MEX3D_ENST00000388824.6_Missense_Mutation_p.G290E|AC027307.1_ENST00000410788.1_RNA	p.G290E	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_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	868	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	290			KH 2.		A0PJL8|A1L023|E9PAL6|Q71M49	Missense_Mutation	SNP	ENST00000402693.4	37	c.869G>A	CCDS32865.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027451	0.75390	.	.	ENSG00000181588	ENST00000402693;ENST00000388824	D;D	0.88741	-2.42;-2.42	4.61	4.61	0.57282	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95316	0.8416	10	0.87932	D	0	-26.2256	16.4135	0.83727	0.0:1.0:0.0:0.0	.	290	Q86XN8	MEX3D_HUMAN	E	290	ENSP00000384398:G290E;ENSP00000373476:G290E	ENSP00000373476:G290E	G	-	2	0	MEX3D	1507649	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	7.337000	0.79256	2.120000	0.65058	0.313000	0.20887	GGG		0.726	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2	NM_203304		11	30	0	0	0	1	0	11	30				
NPEPPS	9520	broad.mit.edu	37	17	45608813	45608813	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr17:45608813G>T	ENST00000322157.4	+	1	384	c.147G>T	c.(145-147)agG>agT	p.R49S	NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000544660.1_Missense_Mutation_p.R5S|NPEPPS_ENST00000530173.1_Missense_Mutation_p.R45S	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	49					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CGGAGAAGAGGCCCTTCGAGC	0.677																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(145-147)agG>agT		aminopeptidase puromycin sensitive							3.0	4.0	4.0					17																	45608813		1528	3577	5105	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45608813G>T	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.147G>T	17.37:g.45608813G>T	ENSP00000320324:p.Arg49Ser					NPEPPS_ENST00000530173.1_Missense_Mutation_p.R45S|NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000544660.1_Missense_Mutation_p.R5S	p.R49S	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			1	384	+			49					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.147G>T	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685219	0.29872	.	.	ENSG00000141279	ENST00000525007;ENST00000530173;ENST00000322157;ENST00000544660	T;T;T;T	0.04156	3.69;3.69;3.69;4.89	2.46	2.46	0.29980	.	0.184075	0.43110	U	0.000603	T	0.02156	0.0067	N	0.08118	0	0.48975	D	0.999738	B;B;B	0.21905	0.062;0.001;0.002	B;B;B	0.18263	0.021;0.001;0.009	T	0.50118	-0.8865	10	0.13470	T	0.59	.	6.3712	0.21483	0.1505:0.0:0.8495:0.0	.	49;45;49	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	S	36;45;49;5	ENSP00000437019:R36S;ENSP00000433287:R45S;ENSP00000320324:R49S;ENSP00000442461:R5S	ENSP00000320324:R49S	R	+	3	2	NPEPPS	42963812	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	4.363000	0.59473	1.202000	0.43218	0.478000	0.44815	AGG		0.677	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		4	7	1	0	0.150653	1	0.150653	4	7				
MATR3	9782	broad.mit.edu	37	5	138661938	138661938	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr5:138661938C>A	ENST00000394805.3	+	14	2793	c.2458C>A	c.(2458-2460)Cat>Aat	p.H820N	MATR3_ENST00000394800.2_Missense_Mutation_p.H868N|MATR3_ENST00000510056.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.H868N|MATR3_ENST00000502499.1_Missense_Mutation_p.H482N|MATR3_ENST00000504203.1_Missense_Mutation_p.H482N|MATR3_ENST00000361059.2_Missense_Mutation_p.H820N|MATR3_ENST00000503811.1_Missense_Mutation_p.H532N|MATR3_ENST00000509990.1_Missense_Mutation_p.H820N	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	820					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAGAATACTCATTGCAGCAG	0.328																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(2602-2604)Cat>Aat		matrin 3							63.0	63.0	63.0					5																	138661938		2203	4296	6499	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138661938C>A	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.2458C>A	5.37:g.138661938C>A	ENSP00000378284:p.His820Asn					MATR3_ENST00000502929.1_Missense_Mutation_p.H868N|MATR3_ENST00000504203.1_Missense_Mutation_p.H482N|MATR3_ENST00000361059.2_Missense_Mutation_p.H820N|MATR3_ENST00000503811.1_Missense_Mutation_p.H532N|MATR3_ENST00000510056.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.H820N|MATR3_ENST00000394805.3_Missense_Mutation_p.H820N|MATR3_ENST00000502499.1_Missense_Mutation_p.H482N	p.H868N			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		18	3151	+			820					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.2602C>A	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531001	0.85706	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000503811;ENST00000337359	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.12	5.12	0.69794	Zinc finger, U1-type (1);Zinc finger, C2H2-type matrin (1);	0.000000	0.85682	D	0.000000	D	0.88276	0.6393	M	0.80982	2.52	0.51767	D	0.999935	P;P;P;D	0.57899	0.851;0.851;0.949;0.981	P;P;D;D	0.65140	0.775;0.775;0.921;0.932	D	0.89927	0.4063	10	0.87932	D	0	-13.5316	18.6408	0.91394	0.0:1.0:0.0:0.0	.	532;532;868;820	B7ZAV5;B4DRS1;A8MXP9;P43243	.;.;.;MATR3_HUMAN	N	820;820;482;868;868;820;482;532;256	ENSP00000423533:H820N;ENSP00000354346:H820N;ENSP00000421218:H482N;ENSP00000422319:H868N;ENSP00000378279:H868N;ENSP00000378284:H820N;ENSP00000426030:H482N;ENSP00000423587:H532N	ENSP00000338208:H256N	H	+	1	0	MATR3	138689837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.522000	0.73783	2.390000	0.81377	0.644000	0.83932	CAT		0.328	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		3	19	1	0	0.150653	1	0.150653	3	19				
RDX	5962	broad.mit.edu	37	11	110102759	110102759	+	Splice_Site	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:110102759C>T	ENST00000343115.4	-	14	1907		c.e14-1		RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Splice_Site|RDX_ENST00000544551.1_Splice_Site|RDX_ENST00000528900.1_Splice_Site|RDX_ENST00000405097.1_Splice_Site	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin						actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		AACTTAATGCCtatttaaaaa	0.279																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.e14-1		radixin							112.0	103.0	106.0					11																	110102759		2201	4297	6498	SO:0001630	splice_region_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110102759C>T	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1588-1G>A	11.37:g.110102759C>T						RDX_ENST00000544551.1_Splice_Site|RDX_ENST00000528900.1_Splice_Site|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Splice_Site|RDX_ENST00000528498.1_Splice_Site		NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	14	1907	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)						A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Splice_Site	SNP	ENST00000343115.4	37		CCDS8343.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650867	0.67472	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0537	0.97638	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RDX	109607969	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	7.776000	0.85560	2.758000	0.94735	0.561000	0.74099	.		0.279	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906	Intron	17	96	0	0	0	1	0	17	96				
TERF2	7014	broad.mit.edu	37	16	69400744	69400744	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr16:69400744G>C	ENST00000254942.3	-	7	1322	c.1306C>G	c.(1306-1308)Ctc>Gtc	p.L436V	TERF2_ENST00000603068.1_Missense_Mutation_p.L394V|TERF2_ENST00000569611.2_5'Flank	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	436					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GGTTGGTTGAGAACGGTGGGC	0.562																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000254942.3																			0				NS(2)|breast(1)|large_intestine(3)|lung(1)	7						c.(1306-1308)Ctc>Gtc		telomeric repeat binding factor 2							63.0	60.0	61.0					16																	69400744		2198	4300	6498	SO:0001583	missense	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69400744G>C		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1306C>G	16.37:g.69400744G>C	ENSP00000254942:p.Leu436Val					TERF2_ENST00000603068.1_Missense_Mutation_p.L394V	p.L436V	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN			7	1322	-		Ovarian(137;0.101)	394						Missense_Mutation	SNP	ENST00000254942.3	37	c.1306C>G		.	.	.	.	.	.	.	.	.	.	G	11.78	1.741525	0.30865	.	.	ENSG00000132604	ENST00000254942	.	.	.	6.07	5.09	0.68999	.	0.466636	0.21645	N	0.071267	T	0.68192	0.2974	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.64609	-0.6367	9	0.29301	T	0.29	-5.7314	12.5133	0.56017	0.0:0.0:0.8334:0.1666	.	394	Q15554	TERF2_HUMAN	V	394	.	ENSP00000254942:L394V	L	-	1	0	TERF2	67958245	0.990000	0.36364	0.770000	0.31555	0.056000	0.15407	2.802000	0.47916	1.512000	0.48834	0.655000	0.94253	CTC		0.562	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			4	41	0	0	0	1	0	4	41				
ALDH9A1	223	broad.mit.edu	37	1	165638641	165638641	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:165638641T>C	ENST00000354775.4	-	7	1281	c.977A>G	c.(976-978)gAt>gGt	p.D326G	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.D232G	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	302					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGTAAATTTATCAAGAATTTC	0.398																																					Ovarian(179;1583 2014 18106 33801 42447)	ENST00000354775.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(976-978)gAt>gGt		aldehyde dehydrogenase 9 family, member A1	NADH(DB00157)						87.0	85.0	85.0					1																	165638641		2203	4300	6503	SO:0001583	missense	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165638641T>C	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.977A>G	1.37:g.165638641T>C	ENSP00000346827:p.Asp326Gly					ALDH9A1_ENST00000538148.1_Missense_Mutation_p.D232G	p.D326G	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN			7	1281	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		302					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	ENST00000354775.4	37	c.977A>G	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637062	0.47049	.	.	ENSG00000143149	ENST00000354775;ENST00000538148	D;D	0.92911	-3.13;-3.13	5.12	5.12	0.69794	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.330357	0.35903	N	0.002912	D	0.88100	0.6346	M	0.78801	2.425	0.33865	D	0.634191	B;B;B;B	0.10296	0.001;0.003;0.001;0.003	B;B;B;B	0.10450	0.003;0.005;0.005;0.005	D	0.87801	0.2625	9	0.62326	D	0.03	.	12.8803	0.58014	0.0:0.0:0.0:1.0	.	232;316;302;326	B4DYY1;B4DX14;P49189;B9EKV4	.;.;AL9A1_HUMAN;.	G	326;232	ENSP00000346827:D326G;ENSP00000440026:D232G	ENSP00000346827:D326G	D	-	2	0	ALDH9A1	163905265	0.996000	0.38824	0.907000	0.35723	0.954000	0.61252	2.474000	0.45154	1.931000	0.55961	0.477000	0.44152	GAT		0.398	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			7	61	0	0	0	1	0	7	61				
NUMA1	4926	broad.mit.edu	37	11	71725814	71725814	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:71725814G>C	ENST00000393695.3	-	15	3066	c.2735C>G	c.(2734-2736)aCc>aGc	p.T912S	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.T912S	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						CTCTTTGCTGGTGGCAGCCAT	0.607			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.(2734-2736)aCc>aGc		nuclear mitotic apparatus protein 1							61.0	58.0	59.0					11																	71725814		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.chr11:71725814G>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2735C>G	11.37:g.71725814G>C	ENSP00000377298:p.Thr912Ser					RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.T912S|NUMA1_ENST00000351960.6_Intron	p.T912S	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3066	-			912						Missense_Mutation	SNP	ENST00000393695.3	37	c.2735C>G	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493095	0.26774	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652	T;T	0.12569	2.67;2.67	4.31	4.31	0.51392	.	0.000000	0.53938	D	0.000048	T	0.09818	0.0241	L	0.44542	1.39	0.25372	N	0.988698	B;B;B;B	0.33637	0.112;0.42;0.22;0.22	B;B;B;B	0.25506	0.042;0.061;0.042;0.042	T	0.17837	-1.0356	9	.	.	.	.	8.1297	0.31020	0.0878:0.1621:0.7501:0.0	.	918;396;912;912	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	S	912;912;475	ENSP00000351851:T912S;ENSP00000377298:T912S	.	T	-	2	0	NUMA1	71403462	0.003000	0.15002	1.000000	0.80357	0.924000	0.55760	1.234000	0.32660	2.691000	0.91804	0.655000	0.94253	ACC		0.607	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			118	111	0	0	0	1	0	118	111				
PITPNM2	57605	broad.mit.edu	37	12	123481122	123481122	+	Silent	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr12:123481122G>A	ENST00000542749.1	-	11	1728	c.1665C>T	c.(1663-1665)gtC>gtT	p.V555V	PITPNM2_ENST00000320201.4_Silent_p.V555V|PITPNM2_ENST00000392428.1_Silent_p.V276V|PITPNM2_ENST00000280562.5_Silent_p.V555V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	555					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CAATCAGGCAGACCTTGGGAG	0.657																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1663-1665)gtC>gtT		phosphatidylinositol transfer protein, membrane-associated 2							32.0	33.0	33.0					12																	123481122		2202	4299	6501	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481122G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1665C>T	12.37:g.123481122G>A						PITPNM2_ENST00000392428.1_Silent_p.V276V|PITPNM2_ENST00000542749.1_Silent_p.V555V|PITPNM2_ENST00000320201.4_Silent_p.V555V	p.V555V			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	12	1870	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		555					Q9P271	Silent	SNP	ENST00000542749.1	37	c.1665C>T	CCDS9242.1																																																																																				0.657	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		6	71	0	0	0	1	0	6	71				
FZD4	8322	broad.mit.edu	37	11	86666010	86666010	+	Missense_Mutation	SNP	C	C	T	rs139401671	byFrequency	TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:86666010C>T	ENST00000531380.1	-	1	423	c.118G>A	c.(118-120)Gag>Aag	p.E40K	RP11-736K20.6_ENST00000499504.3_lincRNA	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	40	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.		E -> Q (in EVR1). {ECO:0000269|PubMed:20340138}.		brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGCTCTTCCTCGTCCCCGAAG	0.697																																						ENST00000531380.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(118-120)Gag>Aag		frizzled family receptor 4							29.0	32.0	31.0					11																	86666010		2200	4299	6499	SO:0001583	missense	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86666010C>T	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.118G>A	11.37:g.86666010C>T	ENSP00000434034:p.Glu40Lys						p.E40K	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			1	423	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	40		E -> Q (in EVR1).	FZ.		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	c.118G>A	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722907	0.48728	.	.	ENSG00000174804	ENST00000531380	T	0.80393	-1.37	4.26	4.26	0.50523	Frizzled domain (1);	0.319834	0.33895	N	0.004448	T	0.69223	0.3087	L	0.29908	0.895	0.50313	D	0.999868	B	0.28880	0.226	B	0.17098	0.017	T	0.66416	-0.5929	9	.	.	.	.	16.8181	0.85738	0.0:1.0:0.0:0.0	.	40	Q9ULV1	FZD4_HUMAN	K	40	ENSP00000434034:E40K	.	E	-	1	0	FZD4	86343658	.	.	1.000000	0.80357	0.979000	0.70002	.	.	2.382000	0.81193	0.555000	0.69702	GAG		0.697	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		4	45	0	0	0	1	0	4	45				
APOL5	80831	broad.mit.edu	37	22	36122515	36122515	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr22:36122515C>T	ENST00000249044.2	+	3	400	c.400C>T	c.(400-402)Ctt>Ttt	p.L134F		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	134					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TCACGAGTTGCTTACCAAGAC	0.502																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(400-402)Ctt>Ttt		apolipoprotein L, 5							74.0	75.0	74.0					22																	36122515		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122515C>T	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.400C>T	22.37:g.36122515C>T	ENSP00000249044:p.Leu134Phe						p.L134F	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			3	400	+			134					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.400C>T	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	C	1.394	-0.579986	0.03854	.	.	ENSG00000128313	ENST00000249044	T	0.03468	3.92	3.6	-0.604	0.11626	.	0.841135	0.10143	N	0.710639	T	0.01870	0.0059	N	0.04746	-0.17	0.09310	N	1	B	0.28291	0.206	B	0.24541	0.054	T	0.49204	-0.8964	10	0.29301	T	0.29	.	7.1845	0.25791	0.0:0.2322:0.0:0.7677	.	134	Q9BWW9	APOL5_HUMAN	F	134	ENSP00000249044:L134F	ENSP00000249044:L134F	L	+	1	0	APOL5	34452461	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.037000	0.13840	-0.231000	0.09825	0.655000	0.94253	CTT		0.502	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		9	124	0	0	0	1	0	9	124				
COPS6	10980	broad.mit.edu	37	7	99689087	99689087	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr7:99689087C>G	ENST00000303904.3	+	9	824	c.787C>G	c.(787-789)Ctg>Gtg	p.L263V	MIR106B_ENST00000385301.1_RNA|MIR93_ENST00000385024.1_RNA|MIR25_ENST00000384816.1_RNA|COPS6_ENST00000418625.1_Missense_Mutation_p.L262V	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	263	Interaction with Vpr.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGCCTATGCTCTGTGTCACTG	0.507																																						ENST00000303904.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(787-789)Ctg>Gtg		COP9 signalosome subunit 6							121.0	125.0	124.0					7																	99689087		2203	4300	6503	SO:0001583	missense	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99689087C>G	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.787C>G	7.37:g.99689087C>G	ENSP00000304102:p.Leu263Val					COPS6_ENST00000418625.1_Missense_Mutation_p.L262V	p.L263V	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		9	824	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		263			Interaction with Vpr.		A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	c.787C>G	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847209	0.51164	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.54279	0.58;0.58	5.44	-0.575	0.11734	.	0.000000	0.64402	D	0.000002	T	0.63920	0.2552	M	0.80028	2.48	0.51012	D	0.999909	D	0.60575	0.988	P	0.61940	0.896	T	0.62158	-0.6913	10	0.23302	T	0.38	-4.8093	9.9324	0.41530	0.0:0.5536:0.0:0.4464	.	263	Q7L5N1	CSN6_HUMAN	V	263;262	ENSP00000304102:L263V;ENSP00000400617:L262V	ENSP00000304102:L263V	L	+	1	2	COPS6	99527023	0.560000	0.26570	0.565000	0.28409	0.888000	0.51559	1.145000	0.31577	-0.051000	0.13334	-0.123000	0.14984	CTG		0.507	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		33	130	0	0	0	1	0	33	130				
PWWP2B	170394	broad.mit.edu	37	10	134230574	134230574	+	3'UTR	SNP	G	G	A			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr10:134230574G>A	ENST00000305233.5	+	0	1858				PWWP2B_ENST00000368609.4_Missense_Mutation_p.R499Q|RP11-432J24.2_ENST00000428814.1_lincRNA	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGTCACCGACGATGAGGGCGC	0.632																																						ENST00000368609.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(1495-1497)cGa>cAa		PWWP domain containing 2B							241.0	264.0	256.0					10																	134230574		1999	4149	6148	SO:0001624	3_prime_UTR_variant	170394							g.chr10:134230574G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.*26G>A	10.37:g.134230574G>A						PWWP2B_ENST00000305233.5_3'UTR	p.R499Q	NM_001098637.1	NP_001092107.1	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	3	1525	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	0			PWWP.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.1496G>A	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.393750	0.00200	.	.	ENSG00000171813	ENST00000368609	T	0.29655	1.56	2.77	-3.01	0.05463	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.33369	-0.9871	7	0.02654	T	1	.	4.3302	0.11060	0.5294:0.1869:0.2837:0.0	.	.	.	.	Q	499	ENSP00000357598:R499Q	ENSP00000357598:R499Q	R	+	2	0	PWWP2B	134080564	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.394000	0.07296	-0.765000	0.04645	-0.237000	0.12165	CGA		0.632	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		69	364	0	0	0	1	0	69	364				
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						ENST00000388718.5																			1	Deletion - Frameshift(1)	p.H1901fs*30(1)	large_intestine(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5701-5706)cagcfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.HS1901fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5775_5776	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	467						8	467	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214170981	214170981	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:214170981delT	ENST00000366958.4	+	2	1711	c.1103delT	c.(1102-1104)gtcfs	p.V368fs	PROX1_ENST00000261454.4_Frame_Shift_Del_p.V368fs|PROX1_ENST00000435016.1_Frame_Shift_Del_p.V368fs|PROX1_ENST00000498508.2_Frame_Shift_Del_p.V368fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	368					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GACACTGTGGTCAAAGTCTTT	0.532																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1102-1104)gcfs		prospero homeobox 1							121.0	118.0	119.0					1																	214170981		2203	4300	6503	SO:0001589	frameshift_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170981delT	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1103delT	1.37:g.214170981delT	ENSP00000355925:p.Val368fs					PROX1_ENST00000498508.2_Frame_Shift_Del_p.V368fs|PROX1_ENST00000261454.4_Frame_Shift_Del_p.V368fs|PROX1_ENST00000435016.1_Frame_Shift_Del_p.V368fs	p.V368fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1711	+			368					A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Del	DEL	ENST00000366958.4	37	c.1103delT	CCDS31021.1																																																																																				0.532	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		9	160						9	160	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-	rs369956607		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502																																						ENST00000296358.4																			1	Deletion - Frameshift(1)	p.L226fs*1(1)	liver(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(676-681)tfs		otopetrin 1																																				SO:0001589	frameshift_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4204225_4204229delTTGAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.676_680delCTCAA	4.37:g.4204225_4204229delTTGAG	ENSP00000296358:p.Leu226fs						p.LN226fs	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	700_704	-			226					A1L476	Frame_Shift_Del	DEL	ENST00000296358.4	37	c.676_680delCTCAA	CCDS3372.1																																																																																				0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		7	144						7	144	---	---	---	---
NLRC3	197358	broad.mit.edu	37	16	3594163	3594163	+	RNA	DEL	A	A	-	rs60164526		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr16:3594163delA	ENST00000301749.7	-	0	3261				LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						tgtctcgaggaaaaaaaaaaa	0.488																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3																																						197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3594163delA	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3594163delA						NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	3261	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	DEL	ENST00000301749.7	37																																																																																						0.488	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		4	5						4	5	---	---	---	---
CNDP2	55748	broad.mit.edu	37	18	72173115	72173119	+	Frame_Shift_Del	DEL	CTATT	CTATT	-	rs556908287|rs369483370		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr18:72173115_72173119delCTATT	ENST00000324262.4	+	4	552_556	c.236_240delCTATT	c.(235-240)cctattfs	p.PI79fs	CNDP2_ENST00000579847.1_Frame_Shift_Del_p.PI79fs|CNDP2_ENST00000324301.8_Intron	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	79					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCGCTCCCTCCTATTCTGCTCGGCA	0.576																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(235-240)cfs		CNDP dipeptidase 2 (metallopeptidase M20 family)																																				SO:0001589	frameshift_variant	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72173115_72173119delCTATT	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.236_240delCTATT	18.37:g.72173115_72173119delCTATT	ENSP00000325548:p.Pro79fs					CNDP2_ENST00000579847.1_Frame_Shift_Del_p.PI79fs|CNDP2_ENST00000324301.8_Intron	p.PI79fs	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	4	552_556	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	79					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Frame_Shift_Del	DEL	ENST00000324262.4	37	c.236_240delCTATT	CCDS12006.1																																																																																				0.576	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		8	48						8	48	---	---	---	---
TPM3P9	147804	broad.mit.edu	37	19	53946133	53946133	+	RNA	DEL	A	A	-	rs35108555|rs398101275	byFrequency	TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr19:53946133delA	ENST00000424846.3	+	0	1130				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		TCATGTTGTGAAAAAAAAAAT	0.348													|||unknown(HR)	3191	0.637181	0.6241	0.6614	5008	,	,		21949	0.4008		0.7127	False		,,,				2504	0.8037					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53946133delA			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53946133delA						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	DEL	ENST00000424846.3	37																																																																																						0.348	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		4	3						4	3	---	---	---	---
