#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
PTH2R	5746	broad.mit.edu	37	2	209309554	209309554	+	Silent	SNP	C	C	A	rs143390240		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:209309554C>A	ENST00000272847.2	+	7	1008	c.795C>A	c.(793-795)atC>atA	p.I265I	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	265					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	ATAATCTCATCTTTGTGGCTT	0.413																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(793-795)atC>atA		parathyroid hormone 2 receptor							302.0	292.0	295.0					2																	209309554		2203	4300	6503	SO:0001819	synonymous_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209309554C>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.795C>A	2.37:g.209309554C>A						PTH2R_ENST00000413482.1_3'UTR	p.I265I	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	7	1008	+			265					Q8N429	Silent	SNP	ENST00000272847.2	37	c.795C>A	CCDS2383.1																																																																																				0.413	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		36	192	1	0	2.24893e-16	0.002222	3.11391e-16	36	192				
MCTP2	55784	broad.mit.edu	37	15	94943169	94943169	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:94943169C>G	ENST00000357742.4	+	15	1910	c.1910C>G	c.(1909-1911)aCt>aGt	p.T637S	MCTP2_ENST00000451018.3_Missense_Mutation_p.T637S|MCTP2_ENST00000331706.4_Missense_Mutation_p.T225S|MCTP2_ENST00000557742.1_Missense_Mutation_p.T225S	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	637					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGTATTAGGACTTTTACTCCC	0.448																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(1909-1911)aCt>aGt		multiple C2 domains, transmembrane 2							95.0	96.0	96.0					15																	94943169		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94943169C>G	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1910C>G	15.37:g.94943169C>G	ENSP00000350377:p.Thr637Ser					MCTP2_ENST00000451018.3_Missense_Mutation_p.T637S|MCTP2_ENST00000331706.4_Missense_Mutation_p.T225S|MCTP2_ENST00000557742.1_Missense_Mutation_p.T225S	p.T637S	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		15	1910	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		637					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.1910C>G	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550014	0.65311	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.69561	-0.41;-0.12;-0.22	5.22	4.29	0.51040	C2 calcium/lipid-binding domain, CaLB (1);	0.043223	0.85682	N	0.000000	T	0.76176	0.3951	M	0.67953	2.075	0.52099	D	0.999948	P;D;P	0.54207	0.929;0.965;0.941	P;P;P	0.56216	0.729;0.671;0.794	T	0.78889	-0.2026	10	0.59425	D	0.04	.	15.6419	0.77012	0.0:0.8619:0.1381:0.0	.	637;225;637	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	S	637;225;637	ENSP00000395109:T637S;ENSP00000329646:T225S;ENSP00000350377:T637S	ENSP00000329646:T225S	T	+	2	0	MCTP2	92744173	0.997000	0.39634	0.992000	0.48379	0.815000	0.46073	3.872000	0.56085	1.153000	0.42468	0.563000	0.77884	ACT		0.448	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		21	125	0	0	0	0.002299	0	21	125				
RTN1	6252	broad.mit.edu	37	14	60212786	60212786	+	Missense_Mutation	SNP	C	C	T	rs370447872		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:60212786C>T	ENST00000267484.5	-	2	990	c.655G>A	c.(655-657)Gac>Aac	p.D219N		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	219					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AAGTCCAAGTCTTTATCTTCC	0.448																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(655-657)Gac>Aac		reticulon 1							241.0	238.0	239.0					14																	60212786		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212786C>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.655G>A	14.37:g.60212786C>T	ENSP00000267484:p.Asp219Asn						p.D219N	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	990	-			219					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.655G>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412789	0.42817	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.25085	1.82	5.43	4.49	0.54785	.	0.689080	0.14806	N	0.297322	T	0.22513	0.0543	L	0.54323	1.7	0.27406	N	0.954704	P	0.34462	0.454	B	0.30401	0.115	T	0.07597	-1.0764	10	0.30078	T	0.28	.	9.6272	0.39757	0.0:0.7708:0.1456:0.0835	.	219	Q16799	RTN1_HUMAN	N	219;145	ENSP00000267484:D219N	ENSP00000267484:D219N	D	-	1	0	RTN1	59282539	0.893000	0.30496	1.000000	0.80357	0.649000	0.38597	0.713000	0.25794	2.540000	0.85666	0.557000	0.71058	GAC		0.448	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			44	218	0	0	0	0.002222	0	44	218				
SNRPE	6635	broad.mit.edu	37	1	203832798	203832798	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:203832798G>A	ENST00000414487.2	+	3	134	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	SNRPE_ENST00000367208.1_5'UTR|SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	30					gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGAGATCGCGGATTCAGGTG	0.473																																					Ovarian(83;324 1318 17952 32395 39614)	ENST00000414487.2																			0				breast(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(88-90)cGg>cAg		small nuclear ribonucleoprotein polypeptide E							111.0	113.0	112.0					1																	203832798		2203	4300	6503	SO:0001583	missense	6635				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr1:203832798G>A	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.89G>A	1.37:g.203832798G>A	ENSP00000400591:p.Arg30Gln					SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_5'UTR	p.R30Q	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	134	+	all_cancers(21;0.103)		30					B2R5B9|P08578|Q15498|Q5BKT2	Missense_Mutation	SNP	ENST00000414487.2	37	c.89G>A	CCDS30979.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705089	0.68615	.	.	ENSG00000182004	ENST00000414487	T	0.46063	0.88	5.16	5.16	0.70880	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.206931	0.42682	N	0.000667	T	0.38692	0.1050	.	.	.	0.80722	D	1	B	0.19935	0.04	B	0.19666	0.026	T	0.13980	-1.0489	9	0.39692	T	0.17	.	18.2808	0.90097	0.0:0.0:1.0:0.0	.	30	P62304	RUXE_HUMAN	Q	30	ENSP00000400591:R30Q	ENSP00000400591:R30Q	R	+	2	0	SNRPE	202099421	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.937000	0.87672	2.400000	0.81607	0.650000	0.86243	CGG		0.473	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094		555	123	0	0	0	0.003610	0	555	123				
CERS3	204219	broad.mit.edu	37	15	100996220	100996220	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:100996220A>T	ENST00000394113.1	-	13	1567	c.877T>A	c.(877-879)Tat>Aat	p.Y293N	CERS3_ENST00000284382.4_Missense_Mutation_p.Y293N|CERS3_ENST00000538112.2_Missense_Mutation_p.Y293N|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	293	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.Y293H(1)									TCGAGGTGATACATAGGCAAG	0.378																																						ENST00000284382.4																			1	Substitution - Missense(1)	p.Y293H(1)	large_intestine(1)								c.(877-879)Tat>Aat		ceramide synthase 3							102.0	93.0	96.0					15																	100996220		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:100996220A>T		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.877T>A	15.37:g.100996220A>T	ENSP00000377672:p.Tyr293Asn					CERS3_ENST00000538112.2_Missense_Mutation_p.Y293N|CERS3_ENST00000394113.1_Missense_Mutation_p.Y293N|CERS3_ENST00000560944.1_Intron	p.Y293N	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN			12	1300	-			293			TLC.		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.877T>A	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	A	4.350	0.064358	0.08388	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.84730	-1.89;-1.89	5.66	-2.98	0.05513	TRAM/LAG1/CLN8 homology domain (3);	0.781236	0.12551	N	0.459073	T	0.78013	0.4217	L	0.40543	1.245	0.09310	N	1	B	0.24043	0.096	B	0.33890	0.172	T	0.64076	-0.6492	10	0.21540	T	0.41	-2.2365	11.3142	0.49381	0.6826:0.0:0.3174:0.0	.	293	Q8IU89	CERS3_HUMAN	N	293;304;293	ENSP00000284382:Y293N;ENSP00000437640:Y293N	ENSP00000284382:Y293N	Y	-	1	0	CERS3	98813743	0.277000	0.24220	0.013000	0.15412	0.306000	0.27790	-0.476000	0.06591	-0.373000	0.07979	-0.242000	0.12053	TAT		0.378	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		5	25	0	0	0	0.000602	0	5	25				
COBL	23242	broad.mit.edu	37	7	51096966	51096966	+	Silent	SNP	T	T	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:51096966T>C	ENST00000265136.7	-	10	1992	c.1827A>G	c.(1825-1827)aaA>aaG	p.K609K	COBL_ENST00000395542.2_Silent_p.K691K	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	609					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACGGATTCCTTTTCCGACGT	0.537																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2071-2073)aaA>aaG		cordon-bleu WH2 repeat protein							84.0	79.0	81.0					7																	51096966		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51096966T>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1827A>G	7.37:g.51096966T>C						COBL_ENST00000265136.7_Silent_p.K609K	p.K691K			O75128	COBL_HUMAN			12	2257	-	Glioma(55;0.08)		609					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.2073A>G	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	T	4.386	0.071284	0.08436	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.6	-8.71	0.00848	.	.	.	.	.	T	0.22859	0.0552	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.18903	-1.0322	4	.	.	.	.	5.9458	0.19217	0.1064:0.5069:0.1981:0.1886	.	.	.	.	G	585	.	.	R	-	1	2	COBL	51064460	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.007000	0.12810	-2.117000	0.00829	-1.166000	0.01754	AGG		0.537	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		3	112	0	0	0	0.000248	0	3	112				
MYO1D	4642	broad.mit.edu	37	17	31107759	31107759	+	Missense_Mutation	SNP	C	C	T	rs369774478		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:31107759C>T	ENST00000318217.5	-	2	443	c.139G>A	c.(139-141)Gtt>Att	p.V47I	MYO1D_ENST00000579584.1_Missense_Mutation_p.V47I|MYO1D_ENST00000583621.1_Missense_Mutation_p.V47I|MYO1D_ENST00000394649.4_5'UTR	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	47	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTCACAGAAACGACGACTTCT	0.423																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(139-141)Gtt>Att		myosin ID		C	ILE/VAL	0,4406		0,0,2203	99.0	80.0	87.0		139	4.5	0.7	17		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYO1D	NM_015194.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	47/1007	31107759	1,13005	2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31107759C>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.139G>A	17.37:g.31107759C>T	ENSP00000324527:p.Val47Ile					MYO1D_ENST00000394649.4_5'UTR|MYO1D_ENST00000579584.1_Missense_Mutation_p.V47I|MYO1D_ENST00000583621.1_Missense_Mutation_p.V47I	p.V47I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		2	443	-			47			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.139G>A	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472905	0.84640	0.0	1.16E-4	ENSG00000176658	ENST00000318217	D	0.87103	-2.21	4.48	4.48	0.54585	Myosin head, motor domain (3);	0.000000	0.35677	U	0.003054	D	0.89065	0.6609	L	0.37466	1.105	0.58432	D	0.999998	D	0.76494	0.999	D	0.68765	0.96	D	0.87386	0.2360	10	0.32370	T	0.25	.	15.0286	0.71687	0.0:1.0:0.0:0.0	.	47	O94832	MYO1D_HUMAN	I	47	ENSP00000324527:V47I	ENSP00000324527:V47I	V	-	1	0	MYO1D	28131872	1.000000	0.71417	0.740000	0.30986	0.954000	0.61252	7.548000	0.82154	2.482000	0.83794	0.591000	0.81541	GTT		0.423	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			10	50	0	0	0	0.008291	0	10	50				
MYOC	4653	broad.mit.edu	37	1	171605340	171605340	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:171605340C>T	ENST00000037502.6	-	3	1311	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	414	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		E -> K. {ECO:0000269|PubMed:12356829}.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.E414K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGTTTGTTCGAGTTCCAGA	0.527																																						ENST00000037502.5																			1	Substitution - Missense(1)	p.E414K(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28						c.(1240-1242)Gaa>Aaa		myocilin, trabecular meshwork inducible glucocorticoid response							220.0	201.0	208.0					1																	171605340		2203	4300	6503	SO:0001583	missense	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171605340C>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1240G>A	1.37:g.171605340C>T	ENSP00000037502:p.Glu414Lys						p.E414K	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			3	1299	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		414		E -> K.	Olfactomedin-like.		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.1240G>A	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	7.487	0.649911	0.14516	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591	D	0.89810	-2.57	5.17	3.22	0.36961	Olfactomedin-like (3);	0.264979	0.42420	D	0.000709	T	0.64768	0.2628	L	0.33710	1.025	0.09310	N	1	B;B	0.29627	0.134;0.252	B;B	0.28011	0.038;0.085	T	0.52939	-0.8508	10	0.19147	T	0.46	.	5.3612	0.16089	0.0:0.4938:0.3433:0.163	.	356;414	B4DV44;Q99972	.;MYOC_HUMAN	K	414;367;347	ENSP00000037502:E414K	ENSP00000037502:E414K	E	-	1	0	MYOC	169871963	0.000000	0.05858	0.006000	0.13384	0.209000	0.24338	0.811000	0.27198	1.256000	0.44068	0.555000	0.69702	GAA		0.527	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		34	129	0	0	0	0.004878	0	34	129				
PCDHGA4	56111	broad.mit.edu	37	5	140736510	140736510	+	Silent	SNP	C	C	T	rs374189449		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140736510C>T	ENST00000571252.1	+	1	1743	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	581	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCCGCTCCGCAGATTCCG	0.592																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1741-1743)tcC>tcT				C	,,,,,	6,4394		0,6,2194	138.0	149.0	145.0		,,,1743,,1743	-7.8	1.0	5		145	1,8599		0,1,4299	no	intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHGB1,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018922.2,NM_032053.1	,,,,,	0,7,6493	TT,TC,CC		0.0116,0.1364,0.0538	,,,,,	,,,581/932,,581/821	140736510	7,12993	2200	4300	6500	SO:0001819	synonymous_variant	0							g.chr5:140736510C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1743C>T	5.37:g.140736510C>T						PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.S581S	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1743	+								Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.1743C>T	CCDS58979.1																																																																																				0.592	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		38	192	0	0	0	0.006230	0	38	192				
ADCY7	113	broad.mit.edu	37	16	50347883	50347883	+	Silent	SNP	C	C	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:50347883C>G	ENST00000394697.2	+	23	3106	c.2766C>G	c.(2764-2766)ccC>ccG	p.P922P	ADCY7_ENST00000254235.3_Silent_p.P922P			P51828	ADCY7_HUMAN	adenylate cyclase 7	922	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TACTGAAGCCCAAGTTCAGCG	0.617																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(2764-2766)ccC>ccG		adenylate cyclase 7	Bromocriptine(DB01200)						80.0	74.0	76.0					16																	50347883		2198	4300	6498	SO:0001819	synonymous_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50347883C>G	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2766C>G	16.37:g.50347883C>G						ADCY7_ENST00000254235.3_Silent_p.P922P	p.P922P			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	23	3106	+		all_cancers(37;0.0127)	922			Guanylate cyclase 2.		A0AVA6	Silent	SNP	ENST00000394697.2	37	c.2766C>G	CCDS10741.1																																																																																				0.617	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			14	73	0	0	0	0.002450	0	14	73				
NIPSNAP3A	25934	broad.mit.edu	37	9	107513272	107513272	+	Silent	SNP	C	C	T	rs146388542	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:107513272C>T	ENST00000374767.4	+	2	201	c.96C>T	c.(94-96)taC>taT	p.Y32Y		NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)	32						cytoplasm (GO:0005737)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CCAGACAATACGATGGAATAT	0.363																																						ENST00000374767.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(94-96)taC>taT		nipsnap homolog 3A (C. elegans)		C		3,4403	6.2+/-15.9	0,3,2200	96.0	98.0	97.0		96	-10.4	0.0	9	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	NIPSNAP3A	NM_015469.1		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		32/248	107513272	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	25934							g.chr9:107513272C>T	BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.96C>T	9.37:g.107513272C>T							p.Y32Y	NM_015469.1	NP_056284.1					2	201	+								A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Silent	SNP	ENST00000374767.4	37	c.96C>T	CCDS6760.1																																																																																				0.363	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053484.1	NM_015469		15	90	0	0	0	0.002450	0	15	90				
IL1RAPL1	11141	broad.mit.edu	37	X	29972757	29972757	+	Missense_Mutation	SNP	G	G	T	rs377412690		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:29972757G>T	ENST00000378993.1	+	10	1993	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.K440N	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	440	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.K440K(1)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGCTTGAAAAGCATTATGGAT	0.373																																						ENST00000378993.1																			1	Substitution - coding silent(1)	p.K440K(1)	ovary(1)	biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1318-1320)aaG>aaT		interleukin 1 receptor accessory protein-like 1							93.0	82.0	86.0					X																	29972757		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29972757G>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1320G>T	X.37:g.29972757G>T	ENSP00000368278:p.Lys440Asn					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.K440N	p.K440N	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			10	1993	+			440			TIR.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1320G>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	7.355	0.623585	0.14193	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.08282	3.11;3.11	5.51	2.76	0.32466	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	L	0.31371	0.925	0.51233	D	0.999917	P	0.36222	0.544	B	0.43658	0.426	T	0.37572	-0.9700	9	.	.	.	.	9.4649	0.38806	0.2997:0.0:0.7003:0.0	.	440	Q9NZN1	IRPL1_HUMAN	N	440	ENSP00000368278:K440N;ENSP00000305200:K440N	.	K	+	3	2	IL1RAPL1	29882678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.851000	0.27751	0.616000	0.30141	0.594000	0.82650	AAG		0.373	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		14	74	1	0	0.00316338	0.003163	0.00402612	14	74				
TSPAN33	340348	broad.mit.edu	37	7	128802337	128802337	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:128802337G>A	ENST00000289407.4	+	3	372	c.263G>A	c.(262-264)cGc>cAc	p.R88H	Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	88					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						GGGTCCCTCCGCGAGAACATC	0.627																																						ENST00000289407.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(262-264)cGc>cAc		tetraspanin 33							109.0	85.0	93.0					7																	128802337		2203	4300	6503	SO:0001583	missense	340348					integral to membrane		g.chr7:128802337G>A		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.263G>A	7.37:g.128802337G>A	ENSP00000289407:p.Arg88His						p.R88H	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN			3	372	+			88						Missense_Mutation	SNP	ENST00000289407.4	37	c.263G>A	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513769	0.96402	.	.	ENSG00000158457	ENST00000289407	T	0.81078	-1.45	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92541	0.7631	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93845	0.7140	10	0.87932	D	0	-15.1169	17.671	0.88217	0.0:0.0:1.0:0.0	.	88	Q86UF1	TSN33_HUMAN	H	88	ENSP00000289407:R88H	ENSP00000289407:R88H	R	+	2	0	TSPAN33	128589573	1.000000	0.71417	0.961000	0.40146	0.951000	0.60555	8.972000	0.93424	2.778000	0.95560	0.655000	0.94253	CGC		0.627	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		6	47	0	0	0	0.003080	0	6	47				
LRRC37A5P	652972	broad.mit.edu	37	9	114371450	114371450	+	RNA	SNP	G	G	A	rs551973551		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:114371450G>A	ENST00000374304.1	-	0	349							Q49AS3	L37A5_HUMAN	leucine rich repeat containing 37, member A5, pseudogene																		AGTGCAGTCCGTCTTCAAGGT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23734	0.0		0.0	False		,,,				2504	0.0					ENST00000374304.1																			0																																																			0							g.chr9:114371450G>A	BC031236		9q31.3	2012-10-16	2012-03-07	2012-03-07	ENSG00000204173	ENSG00000204173			23369	pseudogene	pseudogene			"""chromosome 9 open reading frame 29"""	C9orf29			Standard	NR_034087		Approved		uc022bly.1	Q49AS3	OTTHUMG00000020494		9.37:g.114371450G>A														0	349	-								Q5JVP0	RNA	SNP	ENST00000374304.1	37			.	.	.	.	.	.	.	.	.	.	g	2.383	-0.341553	0.05243	.	.	ENSG00000204173	ENST00000374306;ENST00000536054	.	.	.	0.957	-0.408	0.12381	.	.	.	.	.	T	0.10895	0.0266	.	.	.	0.19300	N	0.999975	.	.	.	.	.	.	T	0.36696	-0.9737	4	0.02654	T	1	.	3.0327	0.06111	0.7065:0.0:0.2935:0.0	.	.	.	.	M	53;45	.	ENSP00000363425:T53M	T	-	2	0	C9orf29	113411271	0.956000	0.32656	0.324000	0.25361	0.009000	0.06853	-0.180000	0.09754	-0.082000	0.12640	-0.691000	0.03719	ACG		0.493	LRRC37A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053655.2	NR_034087		42	163	0	0	0	0.003610	0	42	163				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	61	0	0	0	0.004672	0	3	61				
SETD2	29072	broad.mit.edu	37	3	47098400	47098400	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:47098400G>A	ENST00000409792.3	-	15	6916	c.6874C>T	c.(6874-6876)Caa>Taa	p.Q2292*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2292	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGGTTGCTTGAGACTGTGCA	0.463			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6874-6876)Caa>Taa		SET domain containing 2							116.0	110.0	112.0					3																	47098400		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47098400G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6874C>T	3.37:g.47098400G>A	ENSP00000386759:p.Gln2292*						p.Q2292*	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	6916	-		Acute lymphoblastic leukemia(5;0.0169)	2292			Gln-rich.|Low charge region.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.6874C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	47	13.432668	0.99741	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.2	5.2	0.72013	.	0.144289	0.32785	N	0.005652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.2916	0.94102	0.0:0.0:1.0:0.0	.	.	.	.	X	2292	.	ENSP00000386759:Q2292X	Q	-	1	0	SETD2	47073404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.143000	0.94623	2.861000	0.98227	0.655000	0.94253	CAA		0.463	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		14	87	0	0	0	0.001855	0	14	87				
MORC1	27136	broad.mit.edu	37	3	108773665	108773665	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:108773665T>A	ENST00000483760.1	-	14	1283	c.1240A>T	c.(1240-1242)Aaa>Taa	p.K414*	MORC1_ENST00000232603.5_Nonsense_Mutation_p.K414*					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTCCTGTTTATTATGGGAT	0.383																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1240-1242)Aaa>Taa		MORC family CW-type zinc finger 1							144.0	138.0	140.0					3																	108773665		2203	4300	6503	SO:0001587	stop_gained	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108773665T>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1240A>T	3.37:g.108773665T>A	ENSP00000417282:p.Lys414*					MORC1_ENST00000483760.1_Nonsense_Mutation_p.K414*	p.K414*	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			14	1322	-			414						Nonsense_Mutation	SNP	ENST00000483760.1	37	c.1240A>T		.	.	.	.	.	.	.	.	.	.	T	38	6.893038	0.97916	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	.	.	.	5.09	5.09	0.68999	.	0.000000	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.3382	12.8546	0.57878	0.0:0.0:0.0:1.0	.	.	.	.	X	414	.	ENSP00000232603:K414X	K	-	1	0	MORC1	110256355	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.896000	0.75665	2.131000	0.65755	0.528000	0.53228	AAA		0.383	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			18	72	0	0	0	0.008871	0	18	72				
DLG4	1742	broad.mit.edu	37	17	7106755	7106755	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:7106755T>G	ENST00000399506.2	-	6	684	c.493A>C	c.(493-495)Aag>Cag	p.K165Q	DLG4_ENST00000485100.1_Missense_Mutation_p.K162Q|DLG4_ENST00000399510.2_Missense_Mutation_p.K208Q|DLG4_ENST00000302955.6_Missense_Mutation_p.K162Q			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	165	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TTAGGCCCCTTGATGAGCTTG	0.607																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(622-624)Aag>Cag		discs, large homolog 4 (Drosophila)							67.0	74.0	72.0					17																	7106755		2001	4152	6153	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7106755T>G	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.493A>C	17.37:g.7106755T>G	ENSP00000382425:p.Lys165Gln					DLG4_ENST00000485100.1_Missense_Mutation_p.K162Q|DLG4_ENST00000302955.6_Missense_Mutation_p.K162Q|DLG4_ENST00000399506.2_Missense_Mutation_p.K165Q	p.K208Q	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			8	1474	-			165			PDZ 2.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.622A>C		.	.	.	.	.	.	.	.	.	.	T	20.2	3.945637	0.73672	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.54675	0.56;0.56;0.56;1.85	4.89	4.89	0.63831	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.78259	0.4255	M	0.93594	3.435	0.51482	D	0.999927	D;D;D;D;D	0.89917	1.0;0.995;0.999;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.993;0.999;1.0;0.999	D	0.83879	0.0278	9	0.87932	D	0	.	12.4919	0.55905	0.0:0.0:0.0:1.0	.	205;165;162;162;208	B9EGL1;P78352;G5E939;O14909;P78352-2	.;DLG4_HUMAN;.;.;.	Q	165;162;208;208;105;208;198;195	ENSP00000382425:K165Q;ENSP00000307471:K162Q;ENSP00000382428:K208Q;ENSP00000388122:K195Q	ENSP00000293813:K208Q	K	-	1	0	DLG4	7047479	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.965000	0.70387	1.846000	0.53633	0.374000	0.22700	AAG		0.607	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		3	76	0	0	0	0.004672	0	3	76				
TRIM60	166655	broad.mit.edu	37	4	165962269	165962269	+	Nonsense_Mutation	SNP	C	C	T	rs368275126		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr4:165962269C>T	ENST00000512596.1	+	3	1261	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	TRIM60_ENST00000508504.1_Nonsense_Mutation_p.R349*|TRIM60_ENST00000341062.5_Nonsense_Mutation_p.R349*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	349	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TAGTTCTGGCCGACATTACTG	0.433																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1045-1047)Cga>Tga		tripartite motif containing 60		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	102.0	105.0	104.0		1045	-5.0	0.0	4		104	0,8600		0,0,4300	no	stop-gained	TRIM60	NM_152620.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		349/472	165962269	1,13005	2203	4300	6503	SO:0001587	stop_gained	166655					intracellular	zinc ion binding	g.chr4:165962269C>T	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1045C>T	4.37:g.165962269C>T	ENSP00000421142:p.Arg349*					TRIM60_ENST00000341062.5_Nonsense_Mutation_p.R349*|TRIM60_ENST00000508504.1_Nonsense_Mutation_p.R349*	p.R349*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1261	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	349			B30.2/SPRY.		Q8NA35	Nonsense_Mutation	SNP	ENST00000512596.1	37	c.1045C>T	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	c	14.17	2.456062	0.43634	2.27E-4	0.0	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	.	.	.	2.49	-4.98	0.03019	.	0.000000	0.42053	U	0.000764	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8643	0.41134	0.1642:0.7141:0.0:0.1217	.	.	.	.	X	349	.	ENSP00000343765:R349X	R	+	1	2	TRIM60	166181719	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.536000	0.06135	-1.177000	0.02744	-0.262000	0.10625	CGA		0.433	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		20	104	0	0	0	0.001882	0	20	104				
CLEC4C	170482	broad.mit.edu	37	12	7883393	7883393	+	Splice_Site	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:7883393G>A	ENST00000542353.1	-	6	987	c.497C>T	c.(496-498)aCa>aTa	p.T166I	CLEC4C_ENST00000540085.1_Splice_Site_p.T135I|CLEC4C_ENST00000354629.5_Splice_Site_p.T135I|CLEC4C_ENST00000360345.3_Splice_Site_p.T166I	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	166	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CTATACTCACGTGACATTTTC	0.433													G|||	3	0.000599042	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0031					ENST00000542353.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e6+1		C-type lectin domain family 4, member C							130.0	115.0	120.0					12																	7883393		2203	4300	6503	SO:0001630	splice_region_variant	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7883393G>A	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.497+1C>T	12.37:g.7883393G>A						CLEC4C_ENST00000360345.3_Splice_Site_p.T166_splice|CLEC4C_ENST00000540085.1_Splice_Site_p.T135_splice|CLEC4C_ENST00000354629.5_Splice_Site_p.T135_splice	p.T166_splice	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	6	987	-			166			C-type lectin.		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Splice_Site	SNP	ENST00000542353.1	37	c.497_splice	CCDS8583.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.82|11.82	1.753791|1.753791	0.31046|0.31046	.|.	.|.	ENSG00000198178|ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345;ENST00000543765|ENST00000537530	T;T;T;T;T|T	0.16743|0.02525	2.32;2.32;2.32;2.32;2.32|4.26	1.88|1.88	0.973|0.973	0.19710|0.19710	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	.|.	.|.	.|.	.|.	T|T	0.04318|0.04318	0.0119|0.0119	L|L	0.48642|0.48642	1.525|1.525	0.18873|0.18873	N|N	0.999984|0.999984	P;D|.	0.89917|.	0.826;1.0|.	B;D|.	0.77004|.	0.235;0.989|.	T|T	0.39623|0.39623	-0.9605|-0.9605	9|7	0.46703|0.87932	T|D	0.11|0	.|.	4.5325|4.5325	0.12011|0.12011	0.2003:0.0:0.7997:0.0|0.2003:0.0:0.7997:0.0	.|.	135;166|.	Q8WTT0-2;Q8WTT0|.	.;CLC4C_HUMAN|.	I|M	166;135;135;166;126|88	ENSP00000440428:T166I;ENSP00000346648:T135I;ENSP00000445338:T135I;ENSP00000353500:T166I;ENSP00000442457:T126I|ENSP00000438649:T88M	ENSP00000346648:T135I|ENSP00000438649:T88M	T|T	-|-	2|2	0|0	CLEC4C|CLEC4C	7774660|7774660	0.053000|0.053000	0.20554|0.20554	0.450000|0.450000	0.26969|0.26969	0.017000|0.017000	0.09413|0.09413	-0.344000|-0.344000	0.07780|0.07780	0.354000|0.354000	0.24105|0.24105	-0.254000|-0.254000	0.11334|0.11334	ACA|ACG		0.433	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503	Missense_Mutation	18	99	0	0	0	0.001523	0	18	99				
ERC2	26059	broad.mit.edu	37	3	56026258	56026258	+	Silent	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:56026258G>A	ENST00000288221.6	-	11	2337	c.2082C>T	c.(2080-2082)gaC>gaT	p.D694D		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	694						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCATCCTGGAGTCATCTTCAA	0.428																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2080-2082)gaC>gaT		ELKS/RAB6-interacting/CAST family member 2							153.0	150.0	151.0					3																	56026258		1882	4115	5997	SO:0001819	synonymous_variant	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56026258G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2082C>T	3.37:g.56026258G>A							p.D694D	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	11	2337	-			694					Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	37	c.2082C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	5.164	0.215901	0.09810	.	.	ENSG00000187672	ENST00000492584	.	.	.	5.69	4.81	0.61882	.	.	.	.	.	T	0.48333	0.1494	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48068	-0.9067	4	.	.	.	-21.9727	3.8195	0.08830	0.0799:0.1493:0.5119:0.2589	.	.	.	.	I	345	.	.	T	-	2	0	ERC2	56001298	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.096000	0.30976	2.699000	0.92147	0.591000	0.81541	ACT		0.428	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		33	185	0	0	0	0.006230	0	33	185				
TTN	7273	broad.mit.edu	37	2	179585342	179585342	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:179585342C>A	ENST00000591111.1	-	78	22420	c.22196G>T	c.(22195-22197)gGt>gTt	p.G7399V	TTN_ENST00000342992.6_Missense_Mutation_p.G6472V|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G7716V|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12959	Ig-like 56.				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)			CACATCAGAACCTTTAAGAGC	0.393																																						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.(23146-23148)gGt>gTt		titin																																				SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585342C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22196G>T	2.37:g.179585342C>A	ENSP00000465570:p.Gly7399Val					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G7399V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6472V|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	p.G7716V	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)		80	23371	-			7399			Ig-like 59.		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.23147G>T		.	.	.	.	.	.	.	.	.	.	C	12.60	1.987786	0.35036	.	.	ENSG00000155657	ENST00000342992	T	0.81415	-1.49	5.87	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93413	0.7899	H	0.98542	4.26	0.80722	D	1	D	0.62365	0.991	D	0.66196	0.942	D	0.95800	0.8832	9	0.87932	D	0	.	15.3095	0.74019	0.0:0.9328:0.0:0.0672	.	7399	Q8WZ42	TITIN_HUMAN	V	6472	ENSP00000343764:G6472V	ENSP00000343764:G6472V	G	-	2	0	TTN	179293587	0.899000	0.30636	0.999000	0.59377	0.998000	0.95712	1.638000	0.37165	1.480000	0.48289	0.650000	0.86243	GGT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	34	1	0	2.0095e-06	0.001984	2.66523e-06	5	34				
APOA4	337	broad.mit.edu	37	11	116691938	116691938	+	Missense_Mutation	SNP	C	C	T	rs1042372		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:116691938C>T	ENST00000357780.3	-	3	950	c.836G>A	c.(835-837)aGg>aAg	p.R279K		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	279	13 X 22 AA approximate tandem repeats.		R -> K (in dbSNP:rs1042372). {ECO:0000269|PubMed:3095836, ECO:0000269|PubMed:3755616}.		cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGTGTTGCCCCTCAGGTTGCC	0.677																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(835-837)aGg>aAg		apolipoprotein A-IV							36.0	39.0	38.0					11																	116691938		2201	4292	6493	SO:0001583	missense	337							g.chr11:116691938C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.836G>A	11.37:g.116691938C>T	ENSP00000350425:p.Arg279Lys						p.R279K	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	950	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.836G>A	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.636784	0.00114	.	.	ENSG00000110244	ENST00000357780	T	0.74106	-0.81	4.96	-9.92	0.00455	Apolipoprotein/apolipophorin (1);	2.351460	0.01592	N	0.021589	T	0.42765	0.1217	N	0.04959	-0.14	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43327	-0.9398	10	0.02654	T	1	-1.5682	4.8489	0.13528	0.1233:0.1339:0.1959:0.5469	rs1042372;rs3181829	279	P06727	APOA4_HUMAN	K	279	ENSP00000350425:R279K	ENSP00000350425:R279K	R	-	2	0	APOA4	116197148	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-4.731000	0.00193	-4.329000	0.00056	-0.471000	0.05019	AGG		0.677	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		6	118	0	0	0	0.001168	0	6	118				
HYDIN	54768	broad.mit.edu	37	16	70902514	70902514	+	Missense_Mutation	SNP	C	C	T	rs199890203	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:70902514C>T	ENST00000393567.2	-	66	11419	c.11269G>A	c.(11269-11271)Gta>Ata	p.V3757I	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3757					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTGGGTACGTCCACCCAC	0.527																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(11269-11271)Gta>Ata		HYDIN, axonemal central pair apparatus protein		C	ILE/VAL	0,3784		0,0,1892	42.0	43.0	42.0		11266	-7.5	0.0	16		42	6,8214		0,6,4104	yes	missense	HYDIN	NM_032821.2	29	0,6,5996	TT,TC,CC		0.073,0.0,0.05	probably-damaging	3756/5121	70902514	6,11998	1892	4110	6002	SO:0001583	missense	54768							g.chr16:70902514C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11269G>A	16.37:g.70902514C>T	ENSP00000377197:p.Val3757Ile						p.V3757I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			66	11419	-		Ovarian(137;0.0654)	3757					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.11269G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992987	0.54041	0.0	7.3E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00856	5.61	5.17	-7.53	0.01336	.	1.450790	0.06162	N	0.676024	T	0.00695	0.0023	L	0.45581	1.43	0.09310	N	1	D	0.57257	0.979	B	0.37047	0.24	T	0.46414	-0.9193	10	0.33940	T	0.23	.	1.2147	0.01912	0.2597:0.2713:0.0911:0.3779	.	3756	F8WD23	.	I	3757;3756	ENSP00000377197:V3757I	ENSP00000313052:V3756I	V	-	1	0	HYDIN	69460015	0.000000	0.05858	0.000000	0.03702	0.593000	0.36681	-2.004000	0.01461	-0.941000	0.03700	-0.294000	0.09567	GTA		0.527	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			5	42	0	0	0	0.001984	0	5	42				
CHD4	1108	broad.mit.edu	37	12	6702730	6702730	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:6702730T>C	ENST00000357008.2	-	16	2529	c.2366A>G	c.(2365-2367)aAc>aGc	p.N789S	CHD4_ENST00000309577.6_Missense_Mutation_p.N789S|CHD4_ENST00000544484.1_Missense_Mutation_p.N786S|CHD4_ENST00000544040.1_Missense_Mutation_p.N782S	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	789	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCGCTCCCAGTTGATGATGGT	0.532																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2365-2367)aAc>aGc		chromodomain helicase DNA binding protein 4							98.0	95.0	96.0					12																	6702730		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6702730T>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2366A>G	12.37:g.6702730T>C	ENSP00000349508:p.Asn789Ser					CHD4_ENST00000357008.2_Missense_Mutation_p.N789S|CHD4_ENST00000544484.1_Missense_Mutation_p.N786S|CHD4_ENST00000544040.1_Missense_Mutation_p.N782S	p.N789S			Q14839	CHD4_HUMAN			16	2529	-			789			Helicase ATP-binding.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2366A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.374532	0.82573	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	4.8	4.8	0.61643	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97173	0.9076	M	0.91196	3.185	0.80722	D	1	D;D;D	0.76494	0.999;0.974;0.996	D;P;D	0.77557	0.99;0.897;0.98	D	0.98107	1.0418	10	0.87932	D	0	-0.1448	14.5214	0.67853	0.0:0.0:0.0:1.0	.	789;789;782	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	S	786;782;789;789;763	ENSP00000440392:N786S;ENSP00000440542:N782S;ENSP00000312419:N789S;ENSP00000349508:N789S	ENSP00000312419:N789S	N	-	2	0	CHD4	6572991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.841000	0.86834	2.017000	0.59298	0.482000	0.46254	AAC		0.532	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		29	147	0	0	0	0.005443	0	29	147				
RARS	5917	broad.mit.edu	37	5	167921621	167921621	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:167921621G>A	ENST00000231572.3	+	5	599	c.545G>A	c.(544-546)gGa>gAa	p.G182E	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	182					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CTAGTGAATGGAGTTCAACTA	0.343																																						ENST00000231572.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22						c.(544-546)gGa>gAa		arginyl-tRNA synthetase							124.0	133.0	130.0					5																	167921621		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167921621G>A	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.545G>A	5.37:g.167921621G>A	ENSP00000231572:p.Gly182Glu					RARS_ENST00000538719.1_5'UTR	p.G182E	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	5	599	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	182					B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.545G>A	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617179	0.66672	.	.	ENSG00000113643	ENST00000231572	T	0.64085	-0.08	5.57	5.57	0.84162	Arginyl-tRNA synthetase, class Ia, core (1);Arginyl tRNA synthetase, class Ia, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	H	0.96547	3.84	0.80722	D	1	P	0.38395	0.629	P	0.45232	0.474	T	0.82957	-0.0199	10	0.36615	T	0.2	-31.0218	19.5418	0.95277	0.0:0.0:1.0:0.0	.	182	P54136	SYRC_HUMAN	E	182	ENSP00000231572:G182E	ENSP00000231572:G182E	G	+	2	0	RARS	167854199	1.000000	0.71417	0.981000	0.43875	0.615000	0.37417	8.543000	0.90651	2.610000	0.88304	0.655000	0.94253	GGA		0.343	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		14	87	0	0	0	0.004007	0	14	87				
ZNF770	54989	broad.mit.edu	37	15	35274299	35274299	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:35274299G>C	ENST00000356321.4	-	3	1681	c.1337C>G	c.(1336-1338)tCa>tGa	p.S446*		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	446					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTCCTCACCTGATGAACCACA	0.343																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1336-1338)tCa>tGa		zinc finger protein 770							86.0	88.0	87.0					15																	35274299		2201	4298	6499	SO:0001587	stop_gained	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274299G>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1337C>G	15.37:g.35274299G>C	ENSP00000348673:p.Ser446*						p.S446*	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1681	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	446					Q6ZMZ6|Q9NWV2	Nonsense_Mutation	SNP	ENST00000356321.4	37	c.1337C>G	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508105	0.96386	.	.	ENSG00000198146	ENST00000356321	.	.	.	5.49	4.56	0.56223	.	0.652375	0.13885	N	0.356016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.4442	10.5811	0.45257	0.0712:0.1348:0.794:0.0	.	.	.	.	X	446	.	ENSP00000348673:S446X	S	-	2	0	ZNF770	33061591	0.430000	0.25538	0.999000	0.59377	0.480000	0.33159	1.060000	0.30530	1.519000	0.48950	0.655000	0.94253	TCA		0.343	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		12	67	0	0	0	0.001368	0	12	67				
ADAMTS15	170689	broad.mit.edu	37	11	130341228	130341228	+	Silent	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:130341228G>A	ENST00000299164.2	+	7	2028	c.2028G>A	c.(2026-2028)ggG>ggA	p.G676G		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	676	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGGTGTGTGGGGGAGACAATA	0.572																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2026-2028)ggG>ggA		ADAM metallopeptidase with thrombospondin type 1 motif, 15							145.0	151.0	149.0					11																	130341228		2201	4297	6498	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130341228G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2028G>A	11.37:g.130341228G>A							p.G676G	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	7	2028	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	676			Cys-rich.		Q32MI6	Silent	SNP	ENST00000299164.2	37	c.2028G>A	CCDS8488.1																																																																																				0.572	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		12	69	0	0	0	0.002450	0	12	69				
CUEDC1	404093	broad.mit.edu	37	17	55946527	55946527	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:55946527G>A	ENST00000577830.1	-	7	1309	c.896C>T	c.(895-897)tCt>tTt	p.S299F	CUEDC1_ENST00000578357.1_5'UTR|CUEDC1_ENST00000577840.1_Missense_Mutation_p.S162F|CUEDC1_ENST00000407144.2_Missense_Mutation_p.S299F|CUEDC1_ENST00000360238.2_Missense_Mutation_p.S299F	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	299										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GGCATCTTCAGACACAGCGGG	0.617																																						ENST00000577830.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(895-897)tCt>tTt		CUE domain containing 1							88.0	65.0	73.0					17																	55946527		2203	4300	6503	SO:0001583	missense	404093							g.chr17:55946527G>A	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.896C>T	17.37:g.55946527G>A	ENSP00000462717:p.Ser299Phe					CUEDC1_ENST00000577840.1_Missense_Mutation_p.S162F|CUEDC1_ENST00000578357.1_5'UTR|CUEDC1_ENST00000407144.2_Missense_Mutation_p.S299F|CUEDC1_ENST00000360238.2_Missense_Mutation_p.S299F	p.S299F	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN			7	1309	-			299					D3DTZ2|Q9NWD0	Missense_Mutation	SNP	ENST00000577830.1	37	c.896C>T	CCDS11599.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062119	0.93846	.	.	ENSG00000180891	ENST00000407144;ENST00000360238	T;T	0.27104	1.69;1.69	5.29	5.29	0.74685	.	0.059905	0.64402	D	0.000001	T	0.39835	0.1093	L	0.59436	1.845	0.58432	D	0.999998	P	0.48998	0.918	P	0.50896	0.653	T	0.25047	-1.0143	10	0.72032	D	0.01	-2.9603	17.9143	0.88944	0.0:0.0:1.0:0.0	.	299	Q9NWM3	CUED1_HUMAN	F	299	ENSP00000384712:S299F;ENSP00000353373:S299F	ENSP00000353373:S299F	S	-	2	0	CUEDC1	53301526	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.524000	0.90579	2.490000	0.84030	0.591000	0.81541	TCT		0.617	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949		6	30	0	0	0	0.001984	0	6	30				
ITIH6	347365	broad.mit.edu	37	X	54776462	54776462	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:54776462C>T	ENST00000218436.6	-	13	3837	c.3808G>A	c.(3808-3810)Gtg>Atg	p.V1270M		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1270					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										ATCACAGGCACATCTGGGCCA	0.597																																						ENST00000218436.6																			0											c.(3808-3810)Gtg>Atg		inter-alpha-trypsin inhibitor heavy chain family, member 6							82.0	51.0	61.0					X																	54776462		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54776462C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3808G>A	X.37:g.54776462C>T	ENSP00000218436:p.Val1270Met						p.V1270M	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			13	3837	-			1270					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3808G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455685	0.26161	.	.	ENSG00000102313	ENST00000218436	T	0.03152	4.03	3.58	2.71	0.32032	.	14.314200	0.00465	U	0.000106	T	0.05960	0.0155	L	0.41492	1.28	0.09310	N	1	P	0.39216	0.664	B	0.40506	0.331	T	0.32241	-0.9914	10	0.72032	D	0.01	.	5.5601	0.17140	0.0:0.6253:0.0:0.3747	.	1270	Q6UXX5	ITH5L_HUMAN	M	1270	ENSP00000218436:V1270M	ENSP00000218436:V1270M	V	-	1	0	ITIH5L	54793187	0.001000	0.12720	0.044000	0.18714	0.414000	0.31173	0.011000	0.13264	0.380000	0.24823	0.284000	0.19432	GTG		0.597	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		14	51	0	0	0	0.004007	0	14	51				
SLC28A1	9154	broad.mit.edu	37	15	85467219	85467219	+	Missense_Mutation	SNP	G	G	A	rs150926643		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:85467219G>A	ENST00000286749.3	+	11	1051	c.961G>A	c.(961-963)Gag>Aag	p.E321K	SLC28A1_ENST00000538177.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000537624.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000394573.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000537216.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000537703.1_Missense_Mutation_p.E243K			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	321					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.E321K(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TTTGCAGACCGAGGCTCCATT	0.567																																						ENST00000394573.1																			1	Substitution - Missense(1)	p.E321K(1)	skin(1)	breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(961-963)Gag>Aag		solute carrier family 28 (concentrative nucleoside transporter), member 1		G	LYS/GLU	0,4406		0,0,2203	102.0	80.0	87.0		961	4.1	0.9	15	dbSNP_134	87	1,8597	1.2+/-3.3	0,1,4298	yes	missense	SLC28A1	NM_004213.3	56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	321/650	85467219	1,13003	2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85467219G>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.961G>A	15.37:g.85467219G>A	ENSP00000286749:p.Glu321Lys					SLC28A1_ENST00000537624.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000537703.1_Missense_Mutation_p.E243K|SLC28A1_ENST00000538177.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000537216.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000286749.3_Missense_Mutation_p.E321K	p.E321K	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		12	1163	+			321					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.961G>A	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697360	0.88830	0.0	1.16E-4	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	4.11	4.11	0.48088	Nucleoside recognition (1);	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	H	0.97940	4.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;0.995;1.0	D;P;D;P;D	0.73708	0.954;0.875;0.981;0.899;0.954	T	0.81739	-0.0795	10	0.87932	D	0	-9.9308	14.2507	0.66019	0.0:0.0:1.0:0.0	.	321;321;321;243;321	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	K	321;321;321;321;321;243	ENSP00000440546:E321K;ENSP00000443752:E321K;ENSP00000444700:E321K;ENSP00000286749:E321K;ENSP00000378074:E321K;ENSP00000443764:E243K	ENSP00000286749:E321K	E	+	1	0	SLC28A1	83268223	1.000000	0.71417	0.915000	0.36163	0.904000	0.53231	8.784000	0.91818	2.281000	0.76405	0.655000	0.94253	GAG		0.567	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			9	57	0	0	0	0.004482	0	9	57				
PPP3R1	5534	broad.mit.edu	37	2	68413615	68413615	+	Silent	SNP	A	A	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:68413615A>G	ENST00000234310.3	-	5	853	c.450T>C	c.(448-450)ttT>ttC	p.F150F	PPP3R1_ENST00000409377.1_Silent_p.F140F|RP11-474G23.1_ENST00000406334.3_Silent_p.F140F|PPP3R1_ENST00000409752.1_Silent_p.F169F	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	150	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lung epithelial cell differentiation (GO:0060487)|NFAT protein import into nucleus (GO:0051531)|patterning of blood vessels (GO:0001569)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein dephosphorylation (GO:0006470)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|protein domain specific binding (GO:0019904)			large_intestine(1)	1						AGAATTCTTCAAAGGATATTC	0.333																																						ENST00000234310.3																			0				large_intestine(1)	1						c.(448-450)ttT>ttC		protein phosphatase 3, regulatory subunit B, alpha	Pimecrolimus(DB00337)						160.0	149.0	152.0					2																	68413615		1861	4118	5979	SO:0001819	synonymous_variant	5534				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding	g.chr2:68413615A>G	M30773	CCDS46310.1	2p14	2013-01-10	2010-04-14		ENSG00000221823	ENSG00000221823	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 3, regulatory subunits"", ""EF-hand domain containing"""	9317	protein-coding gene	gene with protein product	"""calcineurin B, type I (19kDa)"", ""protein phosphatase 2B regulatory subunit B alpha"""	601302	"""protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform"""			8978785, 2558868	Standard	NM_000945		Approved	CALNB1, CNB, CNB1	uc002sei.1	P63098	OTTHUMG00000129561	ENST00000234310.3:c.450T>C	2.37:g.68413615A>G						PPP3R1_ENST00000409752.1_Silent_p.F169F|PPP3R1_ENST00000409377.1_Silent_p.F140F	p.F150F	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN			5	853	-			150			EF-hand 4.		B2RC10|B5MDU4|P06705|P15117|Q08044|Q53SL0	Silent	SNP	ENST00000234310.3	37	c.450T>C	CCDS46310.1																																																																																				0.333	PPP3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326765.4	NM_000945		14	93	0	0	0	0.004007	0	14	93				
PCDHA3	56145	broad.mit.edu	37	5	140182210	140182210	+	Silent	SNP	G	G	T	rs368335379		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140182210G>T	ENST00000522353.2	+	1	1428	c.1428G>T	c.(1426-1428)acG>acT	p.T476T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.T476T	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	476	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTTCACGGTGTCTGCGC	0.667																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1426-1428)acG>acT				G	,,,,	0,4406		0,0,2203	84.0	89.0	87.0		,,1428,,1428	-0.5	1.0	5		87	1,8593		0,1,4296	no	intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_031411.1,NM_031497.1	,,,,	0,1,6499	TT,TG,GG		0.0116,0.0,0.0077	,,,,	,,476/951,,476/825	140182210	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	0							g.chr5:140182210G>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1428G>T	5.37:g.140182210G>T						PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.T476T|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.T476T	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1428	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1428G>T	CCDS54915.1																																																																																				0.667	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	220	1	0	1.08611e-07	0.000978	1.45585e-07	5	220				
DENND3	22898	broad.mit.edu	37	8	142176321	142176321	+	Missense_Mutation	SNP	C	C	G	rs201877406	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr8:142176321C>G	ENST00000262585.2	+	12	1624	c.1346C>G	c.(1345-1347)cCg>cGg	p.P449R	DENND3_ENST00000424248.1_Missense_Mutation_p.P397R|DENND3_ENST00000519811.1_Missense_Mutation_p.P529R	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	449					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P449L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAAGGAGACCGACCGTTGAG	0.483																																						ENST00000519811.1																			1	Substitution - Missense(1)	p.P449L(1)	lung(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(1585-1587)cCg>cGg		DENN/MADD domain containing 3							158.0	171.0	166.0					8																	142176321		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142176321C>G	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1346C>G	8.37:g.142176321C>G	ENSP00000262585:p.Pro449Arg					DENND3_ENST00000424248.1_Missense_Mutation_p.P397R|DENND3_ENST00000262585.2_Missense_Mutation_p.P449R	p.P529R			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		12	1656	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		449					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.1586C>G	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594715	0.46318	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811	T;T;T	0.18657	2.86;2.2;2.85	5.12	3.32	0.38043	.	0.339345	0.34580	N	0.003849	T	0.39809	0.1092	M	0.74881	2.28	0.31563	N	0.657316	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72625	0.967;0.978;0.952	T	0.43637	-0.9379	10	0.37606	T	0.19	-35.1181	7.1674	0.25698	0.0:0.6744:0.0:0.3255	.	529;397;449	E9PF32;A2RUS2-2;A2RUS2	.;.;DEND3_HUMAN	R	449;397;529	ENSP00000262585:P449R;ENSP00000410594:P397R;ENSP00000428714:P529R	ENSP00000262585:P449R	P	+	2	0	DENND3	142245503	0.555000	0.26530	0.011000	0.14972	0.010000	0.07245	0.861000	0.27885	0.660000	0.30964	0.561000	0.74099	CCG		0.483	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		6	257	0	0	0	0.001168	0	6	257				
GRPR	2925	broad.mit.edu	37	X	16168588	16168588	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:16168588A>G	ENST00000380289.2	+	2	972	c.574A>G	c.(574-576)Acc>Gcc	p.T192A	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	192					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CACCAACCAGACCTTCATTAG	0.502																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(574-576)Acc>Gcc		gastrin-releasing peptide receptor							230.0	172.0	192.0					X																	16168588		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16168588A>G		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.574A>G	X.37:g.16168588A>G	ENSP00000369643:p.Thr192Ala						p.T192A	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			2	972	+	Hepatocellular(33;0.183)		192					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.574A>G	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.780235	0.90195	.	.	ENSG00000126010	ENST00000380289	T	0.40476	1.03	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.117848	0.53938	D	0.000041	T	0.51856	0.1699	M	0.67700	2.07	0.58432	D	0.999996	P	0.52316	0.952	P	0.52957	0.714	T	0.48917	-0.8992	10	0.19590	T	0.45	-35.918	13.81	0.63256	1.0:0.0:0.0:0.0	.	192	P30550	GRPR_HUMAN	A	192	ENSP00000369643:T192A	ENSP00000369643:T192A	T	+	1	0	GRPR	16078509	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	1.857000	0.53885	0.486000	0.48141	ACC		0.502	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		35	141	0	0	0	0.006230	0	35	141				
NRAP	4892	broad.mit.edu	37	10	115401191	115401191	+	Missense_Mutation	SNP	C	C	T	rs138124439	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr10:115401191C>T	ENST00000359988.3	-	13	1500	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	NRAP_ENST00000369360.3_Missense_Mutation_p.R384H|NRAP_ENST00000360478.3_Missense_Mutation_p.R384H|NRAP_ENST00000369358.4_Missense_Mutation_p.R419H	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCCTTCATAGCGGCCTCTCAT	0.438																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1255-1257)cGc>cAc		nebulin-related anchoring protein		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	175.0	157.0	163.0		1151,1256	-2.4	1.0	10	dbSNP_134	163	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	NRAP	NM_006175.3,NM_198060.2	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	384/1696,419/1731	115401191	2,13004	2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115401191C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1256G>A	10.37:g.115401191C>T	ENSP00000353078:p.Arg419His					NRAP_ENST00000359988.3_Missense_Mutation_p.R419H|NRAP_ENST00000369360.3_Missense_Mutation_p.R384H|NRAP_ENST00000360478.3_Missense_Mutation_p.R384H	p.R419H			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	13	1500	-		Colorectal(252;0.0233)|Breast(234;0.188)	419						Missense_Mutation	SNP	ENST00000359988.3	37	c.1256G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	4.895	0.166360	0.09339	0.0	2.33E-4	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.14766	2.66;2.67;2.57;2.48	5.49	-2.37	0.06643	.	0.302649	0.40908	N	0.000983	T	0.01976	0.0062	N	0.00134	-2.025	0.26680	N	0.971557	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40720	-0.9548	10	0.02654	T	1	.	11.0235	0.47732	0.0:0.3952:0.0:0.6048	.	419;384;419	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	H	419;384;419;384;148;148	ENSP00000358365:R419H;ENSP00000358367:R384H;ENSP00000353078:R419H;ENSP00000353666:R384H	ENSP00000353078:R419H	R	-	2	0	NRAP	115391181	1.000000	0.71417	0.971000	0.41717	0.979000	0.70002	0.745000	0.26259	-0.742000	0.04790	-0.291000	0.09656	CGC		0.438	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		25	93	0	0	0	0.005443	0	25	93				
CCER1	196477	broad.mit.edu	37	12	91347670	91347670	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:91347670T>C	ENST00000358859.2	-	1	1283	c.850A>G	c.(850-852)Aat>Gat	p.N284D	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	284	Glu-rich.																tcatcatcatttttcttctcc	0.517																																						ENST00000358859.2																			0											c.(850-852)Aat>Gat		coiled-coil glutamate-rich protein 1							225.0	224.0	224.0					12																	91347670		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347670T>C	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.850A>G	12.37:g.91347670T>C	ENSP00000351727:p.Asn284Asp					CCER1_ENST00000548187.1_Intron	p.N284D	NM_152638.2	NP_689851.1					1	1283	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.850A>G	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	T	0.953	-0.705818	0.03255	.	.	ENSG00000197651	ENST00000358859	T	0.18016	2.24	5.08	0.0298	0.14164	.	.	.	.	.	T	0.09512	0.0234	N	0.19112	0.55	0.09310	N	1	B	0.22414	0.069	B	0.21917	0.037	T	0.41161	-0.9524	9	0.18710	T	0.47	.	7.6453	0.28316	0.0:0.372:0.0:0.628	.	284	Q8TC90	CL012_HUMAN	D	284	ENSP00000351727:N284D	ENSP00000351727:N284D	N	-	1	0	C12orf12	89871801	0.000000	0.05858	0.005000	0.12908	0.016000	0.09150	-0.605000	0.05661	0.095000	0.17434	-0.456000	0.05471	AAT		0.517	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		7	308	0	0	0	0.003080	0	7	308				
ACSM2A	123876	broad.mit.edu	37	16	20477031	20477031	+	Silent	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:20477031C>T	ENST00000573854.1	+	3	484	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.L124L|ACSM2A_ENST00000219054.6_Silent_p.L124L|ACSM2A_ENST00000575690.1_Silent_p.L124L|ACSM2A_ENST00000396104.2_Silent_p.L124L|ACSM2A_ENST00000417235.2_Silent_p.L45L	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	124					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTGGTGATCCTGGGCTGCAT	0.582																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(370-372)Ctg>Ttg		acyl-CoA synthetase medium-chain family member 2A							77.0	65.0	69.0					16																	20477031		2203	4299	6502	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20477031C>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.370C>T	16.37:g.20477031C>T						ACSM2A_ENST00000396104.2_Silent_p.L124L|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Silent_p.L124L|ACSM2A_ENST00000424070.1_Silent_p.L124L|ACSM2A_ENST00000417235.2_Silent_p.L45L|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Silent_p.L124L	p.L124L	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			3	484	+			124					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.370C>T	CCDS32401.1																																																																																				0.582	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		5	45	0	0	0	0.001168	0	5	45				
TMEM225	338661	broad.mit.edu	37	11	123753867	123753867	+	Missense_Mutation	SNP	C	C	T	rs114749572	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:123753867C>T	ENST00000375026.2	-	4	872	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	219					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGTTACGTGACGTGTTTGGAC	0.418													C|||	13	0.00259585	0.0098	0.0	5008	,	,		19071	0.0		0.0	False		,,,				2504	0.0					ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(655-657)cGt>cAt		transmembrane protein 225		C	HIS/ARG	32,4372	36.8+/-68.6	1,30,2171	178.0	164.0	168.0		656	-0.0	0.0	11	dbSNP_132	168	0,8598		0,0,4299	no	missense	TMEM225	NM_001013743.1	29	1,30,6470	TT,TC,CC		0.0,0.7266,0.2461	benign	219/226	123753867	32,12970	2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123753867C>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.656G>A	11.37:g.123753867C>T	ENSP00000364166:p.Arg219His						p.R219H	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			4	872	-			219						Missense_Mutation	SNP	ENST00000375026.2	37	c.656G>A	CCDS31697.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	7.176	0.588549	0.13812	0.007266	0.0	ENSG00000204300	ENST00000375026	T	0.37584	1.19	3.89	-0.0361	0.13890	.	0.000000	0.45361	D	0.000362	T	0.13884	0.0336	N	0.20986	0.625	0.09310	N	1	B	0.26195	0.144	B	0.18263	0.021	T	0.10730	-1.0617	10	0.52906	T	0.07	-4.2744	6.7241	0.23346	0.0:0.5946:0.0:0.4054	.	219	Q6GV28	TM225_HUMAN	H	219	ENSP00000364166:R219H	ENSP00000364166:R219H	R	-	2	0	TMEM225	123259077	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	0.764000	0.26532	0.004000	0.14682	-1.619000	0.00793	CGT		0.418	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		8	93	0	0	0	0.006214	0	8	93				
MAGEE2	139599	broad.mit.edu	37	X	75003755	75003755	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:75003755A>C	ENST00000373359.2	-	1	1324	c.1132T>G	c.(1132-1134)Tac>Gac	p.Y378D		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	378	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						ACAAGGAGGTAGATGTGCTCA	0.433																																						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.(1132-1134)Tac>Gac		melanoma antigen family E, 2							113.0	91.0	99.0					X																	75003755		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75003755A>C	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1132T>G	X.37:g.75003755A>C	ENSP00000362457:p.Tyr378Asp						p.Y378D	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	1324	-			378			MAGE 2.		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.1132T>G	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506920	0.44558	.	.	ENSG00000186675	ENST00000373359	T	0.14516	2.5	2.97	2.97	0.34412	.	.	.	.	.	T	0.40222	0.1108	M	0.91612	3.225	0.38280	D	0.94241	D	0.76494	0.999	D	0.85130	0.997	T	0.46803	-0.9165	9	0.87932	D	0	.	6.8014	0.23754	1.0:0.0:0.0:0.0	.	378	Q8TD90	MAGE2_HUMAN	D	378	ENSP00000362457:Y378D	ENSP00000362457:Y378D	Y	-	1	0	MAGEE2	74920480	1.000000	0.71417	0.887000	0.34795	0.983000	0.72400	2.473000	0.45145	1.408000	0.46895	0.345000	0.21793	TAC		0.433	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		24	157	0	0	0	0.002299	0	24	157				
MYO7B	4648	broad.mit.edu	37	2	128341815	128341815	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:128341815C>T	ENST00000409816.2	+	12	1494	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y	MYO7B_ENST00000389524.4_Missense_Mutation_p.H488Y|MYO7B_ENST00000428314.1_Missense_Mutation_p.H488Y			Q6PIF6	MYO7B_HUMAN	myosin VIIB	488	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGACTATATCCACTACACCGA	0.577																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(1462-1464)Cac>Tac		myosin VIIB							86.0	96.0	92.0					2																	128341815		2180	4280	6460	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128341815C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1462C>T	2.37:g.128341815C>T	ENSP00000386461:p.His488Tyr					MYO7B_ENST00000428314.1_Missense_Mutation_p.H488Y|MYO7B_ENST00000409816.2_Missense_Mutation_p.H488Y	p.H488Y			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	13	1515	+	Colorectal(110;0.1)		488			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.1462C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787636	0.70337	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.71698	-0.59;-0.59;-0.59	4.69	0.561	0.17285	Myosin head, motor domain (3);	0.588693	0.17776	N	0.162440	T	0.73171	0.3553	L	0.49126	1.545	0.26725	N	0.970699	D	0.57899	0.981	P	0.54544	0.755	T	0.68659	-0.5350	10	0.87932	D	0	.	12.9452	0.58369	0.0:0.278:0.6452:0.0769	.	488	Q6PIF6	MYO7B_HUMAN	Y	488	ENSP00000374175:H488Y;ENSP00000415090:H488Y;ENSP00000386461:H488Y	ENSP00000374175:H488Y	H	+	1	0	MYO7B	128058285	1.000000	0.71417	0.936000	0.37596	0.946000	0.59487	2.129000	0.42055	-0.002000	0.14469	0.650000	0.86243	CAC		0.577	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		14	77	0	0	0	0.003163	0	14	77				
SCN10A	6336	broad.mit.edu	37	3	38755451	38755451	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:38755451G>A	ENST00000449082.2	-	21	3801	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1268					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1268W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGACTTACCCGCATGCCTTCA	0.552																																						ENST00000449082.2																			1	Substitution - Missense(1)	p.R1268W(1)	endometrium(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3802-3804)Cgg>Tgg		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						60.0	61.0	61.0					3																	38755451		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755451G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3802C>T	3.37:g.38755451G>A	ENSP00000390600:p.Arg1268Trp						p.R1268W	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	21	3801	-			1268					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3802C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803294	0.70682	.	.	ENSG00000185313	ENST00000449082	D	0.98914	-5.23	4.14	-2.79	0.05841	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	H	0.99825	4.815	0.44780	D	0.997782	D	0.76494	0.999	D	0.63283	0.913	D	0.98676	1.0690	10	0.87932	D	0	.	15.5813	0.76445	0.0:0.0:0.166:0.8339	.	1268	Q9Y5Y9	SCNAA_HUMAN	W	1268	ENSP00000390600:R1268W	ENSP00000390600:R1268W	R	-	1	2	SCN10A	38730455	1.000000	0.71417	0.996000	0.52242	0.882000	0.50991	1.604000	0.36804	-0.300000	0.08895	0.411000	0.27672	CGG		0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		22	93	0	0	0	0.003330	0	22	93				
PCDHA2	56146	broad.mit.edu	37	5	140176926	140176926	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140176926T>C	ENST00000526136.1	+	1	2377	c.2377T>C	c.(2377-2379)Tac>Cac	p.Y793H	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.Y793H|PCDHA2_ENST00000378132.1_Missense_Mutation_p.Y793H|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	793	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATCAGAATACGTAGGAAA	0.403																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2377-2379)Tac>Cac									40.0	45.0	43.0					5																	140176926		2203	4300	6503	SO:0001583	missense	0							g.chr5:140176926T>C	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2377T>C	5.37:g.140176926T>C	ENSP00000431748:p.Tyr793His					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.Y793H|PCDHA2_ENST00000520672.2_Missense_Mutation_p.Y793H|PCDHA1_ENST00000394633.3_Intron	p.Y793H	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2377	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2377T>C	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	t	4.868	0.161326	0.09287	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.48836	0.9;0.8;2.85	4.61	-3.6	0.04570	.	1.749160	0.04173	N	0.325126	T	0.22044	0.0531	N	0.08118	0	0.09310	N	1	B;B;B	0.15473	0.013;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.002	T	0.10064	-1.0646	10	0.15066	T	0.55	.	4.0489	0.09786	0.0942:0.3536:0.1027:0.4496	.	793;793;793	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	H	793	ENSP00000430584:Y793H;ENSP00000367372:Y793H;ENSP00000431748:Y793H	ENSP00000367372:Y793H	Y	+	1	0	PCDHA2	140157110	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-2.614000	0.00883	-0.427000	0.07350	0.482000	0.46254	TAC		0.403	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		14	48	0	0	0	0.001855	0	14	48				
SPDEF	25803	broad.mit.edu	37	6	34508917	34508917	+	Silent	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:34508917G>A	ENST00000374037.3	-	3	892	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	SPDEF_ENST00000544425.1_Silent_p.L160L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	160	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						TCTGTCCACAGGAGCCACTTC	0.642																																						ENST00000374037.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						c.(478-480)Ctg>Ttg		SAM pointed domain containing ETS transcription factor							36.0	35.0	35.0					6																	34508917		2203	4300	6503	SO:0001819	synonymous_variant	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34508917G>A	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.478C>T	6.37:g.34508917G>A						SPDEF_ENST00000544425.1_Silent_p.L160L	p.L160L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN			3	892	-			160			PNT.		B4DWH8|F5H778	Silent	SNP	ENST00000374037.3	37	c.478C>T	CCDS4794.1																																																																																				0.642	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		7	9	0	0	0	0.004482	0	7	9				
ZNF691	51058	broad.mit.edu	37	1	43317456	43317456	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:43317456G>T	ENST00000372506.1	+	4	1167	c.827G>T	c.(826-828)gGc>gTc	p.G276V	ZNF691_ENST00000397044.3_Missense_Mutation_p.G307V|ZNF691_ENST00000372504.1_Missense_Mutation_p.G298V|ZNF691_ENST00000372507.1_Missense_Mutation_p.G276V|ZNF691_ENST00000372508.3_Missense_Mutation_p.G276V|ZNF691_ENST00000372502.1_Missense_Mutation_p.G298V	NM_001242739.1	NP_001229668.1	Q5VV52	ZN691_HUMAN	zinc finger protein 691	139						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTCACTTGGGCGAACAGGCT	0.552																																						ENST00000372504.1																			0				large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7						c.(892-894)gGc>gTc		zinc finger protein 691							31.0	34.0	33.0					1																	43317456		2203	4300	6503	SO:0001583	missense	51058					nucleus	DNA binding|zinc ion binding	g.chr1:43317456G>T		CCDS476.1, CCDS55595.1	1p34.2	2013-01-08			ENSG00000164011	ENSG00000164011		"""Zinc fingers, C2H2-type"""	28028	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001242739		Approved	Zfp691	uc021omh.1	Q5VV52	OTTHUMG00000007623	ENST00000372506.1:c.827G>T	1.37:g.43317456G>T	ENSP00000361584:p.Gly276Val					ZNF691_ENST00000397044.3_Missense_Mutation_p.G307V|ZNF691_ENST00000372502.1_Missense_Mutation_p.G298V|ZNF691_ENST00000372506.1_Missense_Mutation_p.G276V|ZNF691_ENST00000372507.1_Missense_Mutation_p.G276V|ZNF691_ENST00000372508.3_Missense_Mutation_p.G276V	p.G298V			Q5VV52	ZN691_HUMAN			5	1243	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	139					A8MXP6|B4DJR7|O95878|Q9NWE8	Missense_Mutation	SNP	ENST00000372506.1	37	c.893G>T	CCDS476.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670642	0.67814	.	.	ENSG00000164011	ENST00000372508;ENST00000372507;ENST00000372506;ENST00000397044;ENST00000372504;ENST00000372502	T;T;T;T;T;T	0.12672	2.72;2.72;2.72;2.66;2.67;2.67	5.06	3.18	0.36537	.	.	.	.	.	T	0.18383	0.0441	L	0.41027	1.25	0.47276	D	0.999371	D	0.57257	0.979	P	0.55545	0.778	T	0.01500	-1.1339	9	0.72032	D	0.01	-8.1952	6.1445	0.20278	0.1724:0.1543:0.6733:0.0	.	307	B4DJR7	.	V	276;276;276;307;298;298	ENSP00000361586:G276V;ENSP00000361585:G276V;ENSP00000361584:G276V;ENSP00000380237:G307V;ENSP00000361582:G298V;ENSP00000361580:G298V	ENSP00000361580:G298V	G	+	2	0	ZNF691	43090043	0.992000	0.36948	0.064000	0.19789	0.763000	0.43281	2.646000	0.46630	0.802000	0.34089	-0.232000	0.12228	GGC		0.552	ZNF691-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020192.1	NM_015911		6	52	1	0	0.00198382	0.001984	0.00255062	6	52				
PRSS23	11098	broad.mit.edu	37	11	86519582	86519582	+	Missense_Mutation	SNP	C	C	A	rs150416218	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:86519582C>A	ENST00000280258.5	+	2	1322	c.897C>A	c.(895-897)gaC>gaA	p.D299E	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.D267E	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	299						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACGTCAAAGACGAGACCTATG	0.557																																						ENST00000280258.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(895-897)gaC>gaA		protease, serine, 23							102.0	104.0	103.0					11																	86519582		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519582C>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.897C>A	11.37:g.86519582C>A	ENSP00000280258:p.Asp299Glu					PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.D267E	p.D299E	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	1322	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	299					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.897C>A	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	C	2.953	-0.216312	0.06101	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	T;T	0.41758	0.99;0.99	5.87	-11.7	0.00046	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.047703	0.85682	D	0.000000	T	0.14270	0.0345	N	0.04043	-0.29	0.35628	D	0.810018	B;B	0.15930	0.015;0.006	B;B	0.20767	0.031;0.031	T	0.39583	-0.9607	9	.	.	.	-23.826	15.2777	0.73753	0.0862:0.61:0.0:0.3038	.	267;299	B4E2J3;O95084	.;PRS23_HUMAN	E	299;267	ENSP00000280258:D299E;ENSP00000393015:D267E	.	D	+	3	2	PRSS23	86197230	0.002000	0.14202	0.264000	0.24511	0.832000	0.47134	-1.553000	0.02174	-2.595000	0.00454	-1.910000	0.00522	GAC		0.557	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		15	114	1	0	3.52763e-06	0.004990	4.63002e-06	15	114				
FARS2	10667	broad.mit.edu	37	6	5431389	5431389	+	Silent	SNP	A	A	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:5431389A>G	ENST00000324331.6	+	4	1224	c.888A>G	c.(886-888)caA>caG	p.Q296Q	FARS2_ENST00000274680.4_Silent_p.Q296Q			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	296					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TGATGGAACAACAACTGGTCA	0.458																																						ENST00000324331.6																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(886-888)caA>caG		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						165.0	153.0	157.0					6																	5431389		2203	4300	6503	SO:0001819	synonymous_variant	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5431389A>G	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.888A>G	6.37:g.5431389A>G						FARS2_ENST00000274680.4_Silent_p.Q296Q	p.Q296Q			O95363	SYFM_HUMAN			4	1224	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	296					B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Silent	SNP	ENST00000324331.6	37	c.888A>G	CCDS4494.1																																																																																				0.458	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		20	112	0	0	0	0.008871	0	20	112				
CROCCP2	84809	broad.mit.edu	37	1	16956524	16956524	+	lincRNA	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:16956524G>A	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GGACAAGACCGACGGCGCCAC	0.592																																						ENST00000412962.1																			0																																																			0							g.chr1:16956524G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956524G>A														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.592	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	29	0	0	0	0.001984	0	7	29				
DSE	29940	broad.mit.edu	37	6	116758080	116758080	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:116758080A>C	ENST00000331677.3	+	7	2893	c.2449A>C	c.(2449-2451)Aaa>Caa	p.K817Q	DSE_ENST00000452085.3_Missense_Mutation_p.K817Q|DSE_ENST00000359564.2_Missense_Mutation_p.K817Q|DSE_ENST00000537543.1_Missense_Mutation_p.K836Q			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	817					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAAACGCTATAAATTTGTGGA	0.423																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2449-2451)Aaa>Caa		dermatan sulfate epimerase							56.0	58.0	57.0					6																	116758080		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116758080A>C	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2449A>C	6.37:g.116758080A>C	ENSP00000332151:p.Lys817Gln					DSE_ENST00000359564.2_Missense_Mutation_p.K817Q|DSE_ENST00000537543.1_Missense_Mutation_p.K836Q|DSE_ENST00000452085.3_Missense_Mutation_p.K817Q	p.K817Q			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	7	2893	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	817					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.2449A>C	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.515178	0.44763	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	6.16	6.16	0.99307	.	0.094339	0.64402	D	0.000001	T	0.47377	0.1442	N	0.24115	0.695	0.52501	D	0.999956	P;P	0.51351	0.944;0.944	P;P	0.47470	0.548;0.548	T	0.56866	-0.7908	10	0.72032	D	0.01	-21.909	16.8061	0.85666	1.0:0.0:0.0:0.0	.	836;817	B7Z765;Q9UL01	.;DSE_HUMAN	Q	817;836;817;817	ENSP00000404049:K817Q;ENSP00000441152:K836Q;ENSP00000332151:K817Q;ENSP00000352567:K817Q	ENSP00000332151:K817Q	K	+	1	0	DSE	116864773	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.450000	0.66626	2.367000	0.80283	0.528000	0.53228	AAA		0.423	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		8	48	0	0	0	0.003080	0	8	48				
CYP4F3	4051	broad.mit.edu	37	19	15763404	15763404	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr19:15763404A>T	ENST00000221307.8	+	8	991	c.944A>T	c.(943-945)gAt>gTt	p.D315V	CYP4F3_ENST00000586182.2_Missense_Mutation_p.D315V|CYP4F3_ENST00000591058.1_Missense_Mutation_p.D315V|CYP4F3_ENST00000585846.1_Missense_Mutation_p.D315V	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	315					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AAGTTGTCCGATGAGGACATA	0.522																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(943-945)gAt>gTt		cytochrome P450, family 4, subfamily F, polypeptide 3							178.0	170.0	173.0					19																	15763404		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15763404A>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.944A>T	19.37:g.15763404A>T	ENSP00000221307:p.Asp315Val					CYP4F3_ENST00000585846.1_Missense_Mutation_p.D315V|CYP4F3_ENST00000586182.1_Missense_Mutation_p.D315V|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Missense_Mutation_p.D315V	p.D315V	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			8	992	+			315					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.944A>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	17.42	3.384683	0.61845	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.71934	-0.61	3.49	3.49	0.39957	.	0.171301	0.35970	U	0.002870	D	0.83069	0.5174	M	0.85777	2.775	0.80722	D	1	D;D;D	0.67145	0.996;0.988;0.988	D;P;P	0.74023	0.982;0.901;0.901	D	0.84890	0.0836	10	0.87932	D	0	.	9.9996	0.41920	1.0:0.0:0.0:0.0	.	25;315;315	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	V	242;315	ENSP00000221307:D315V	ENSP00000221307:D315V	D	+	2	0	CYP4F3	15624404	1.000000	0.71417	0.990000	0.47175	0.836000	0.47400	7.567000	0.82357	1.454000	0.47793	0.402000	0.26972	GAT		0.522	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		9	260	0	0	0	0.008291	0	9	260				
PRLR	5618	broad.mit.edu	37	5	35065590	35065590	+	Silent	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:35065590C>T	ENST00000382002.5	-	10	1896	c.1470G>A	c.(1468-1470)acG>acA	p.T490T	PRLR_ENST00000231423.3_Intron|PRLR_ENST00000511486.1_Silent_p.T389T|PRLR_ENST00000342362.5_Silent_p.T389T|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000509934.1_5'Flank	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	490					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.T490T(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GCAGCCAGGGCGTATCCTGGT	0.483																																						ENST00000382002.5																			1	Substitution - coding silent(1)	p.T490T(1)	lung(1)	central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1468-1470)acG>acA		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						92.0	101.0	98.0					5																	35065590		2203	4300	6503	SO:0001819	synonymous_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065590C>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1470G>A	5.37:g.35065590C>T						PRLR_ENST00000231423.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Silent_p.T389T|PRLR_ENST00000342362.5_Silent_p.T389T|PRLR_ENST00000310101.5_Intron	p.T490T	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1896	-	all_lung(31;3.83e-05)		490					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	37	c.1470G>A	CCDS3909.1																																																																																				0.483	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			25	121	0	0	0	0.003954	0	25	121				
ITIH6	347365	broad.mit.edu	37	X	54785300	54785300	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:54785300C>T	ENST00000218436.6	-	8	1236	c.1207G>A	c.(1207-1209)Ggc>Agc	p.G403S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	403	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G403S(1)									GTCGTCACGCCGGCCGTGGGC	0.597																																						ENST00000218436.6																			1	Substitution - Missense(1)	p.G403S(1)	kidney(1)								c.(1207-1209)Ggc>Agc		inter-alpha-trypsin inhibitor heavy chain family, member 6							56.0	44.0	48.0					X																	54785300		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785300C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1207G>A	X.37:g.54785300C>T	ENSP00000218436:p.Gly403Ser						p.G403S	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	1236	-			403			VWFA.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1207G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637957	0.29157	.	.	ENSG00000102313	ENST00000218436	T	0.03745	3.82	3.78	1.99	0.26369	von Willebrand factor, type A (3);	0.069948	0.56097	U	0.000027	T	0.07188	0.0182	M	0.77406	2.37	0.21697	N	0.999583	P	0.40970	0.734	B	0.42112	0.376	T	0.12528	-1.0544	10	0.49607	T	0.09	.	8.4301	0.32753	0.0:0.7908:0.0:0.2092	.	403	Q6UXX5	ITH5L_HUMAN	S	403	ENSP00000218436:G403S	ENSP00000218436:G403S	G	-	1	0	ITIH5L	54802025	0.809000	0.29036	0.000000	0.03702	0.000000	0.00434	2.195000	0.42677	0.038000	0.15604	-0.180000	0.13094	GGC		0.597	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		12	33	0	0	0	0.001368	0	12	33				
ZNF276	92822	broad.mit.edu	37	16	89804475	89804475	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:89804475T>A	ENST00000443381.2	+	11	1763	c.1666T>A	c.(1666-1668)Tgt>Agt	p.C556S	ZNF276_ENST00000568064.1_3'UTR|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000446326.2_Missense_Mutation_p.C342S|ZNF276_ENST00000289816.5_Missense_Mutation_p.C481S	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	556					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGACTTTGCCTGTGACCAGTG	0.597																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(1441-1443)Tgt>Agt		zinc finger protein 276							75.0	59.0	64.0					16																	89804475		2198	4300	6498	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89804475T>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1666T>A	16.37:g.89804475T>A	ENSP00000415836:p.Cys556Ser					ZNF276_ENST00000446326.2_Missense_Mutation_p.C342S|ZNF276_ENST00000443381.2_Missense_Mutation_p.C556S|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000568064.1_3'UTR	p.C481S	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	11	1753	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	556					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1441T>A	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511216	0.85389	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	D;D;D	0.99974	-10.2;-10.2;-10.2	5.75	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99971	0.9990	M	0.87971	2.92	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.70935	0.954;0.966;0.971	D	0.94764	0.7939	10	0.87932	D	0	-12.1241	11.1086	0.48218	0.0:0.0723:0.0:0.9277	.	394;556;342	B4DIT3;Q8N554;A8K186	.;ZN276_HUMAN;.	S	342;481;556	ENSP00000415999:C342S;ENSP00000289816:C481S;ENSP00000415836:C556S	ENSP00000289816:C481S	C	+	1	0	ZNF276	88331976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.836000	0.86788	0.996000	0.38943	0.459000	0.35465	TGT		0.597	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		11	44	0	0	0	0.008291	0	11	44				
WASH6P	653440	broad.mit.edu	37	X	155254994	155254994	+	RNA	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:155254994G>A	ENST00000461007.1	+	0	3910				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TGCCCCCACCGCAACAGCCAC	0.637													g|||	2	0.000399361	0.0015	0.0	5008	,	,		22719	0.0		0.0	False		,,,				2504	0.0					ENST00000285718.7																			0																																																			0							g.chrX:155254994G>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254994G>A						WASH6P_ENST00000461007.1_RNA								0	1299	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.637	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	26	0	0	0	0.000248	0	4	26				
YBX2	51087	broad.mit.edu	37	17	7193769	7193769	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:7193769C>T	ENST00000007699.5	-	5	608	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	182					mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGGGATGAATCGGCGGGACTT	0.642																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(544-546)cGa>cAa		Y box binding protein 2							35.0	40.0	38.0					17																	7193769		2195	4284	6479	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193769C>T	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.545G>A	17.37:g.7193769C>T	ENSP00000007699:p.Arg182Gln					YBX2_ENST00000570627.1_5'UTR	p.R182Q	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			5	608	-			182					D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.545G>A	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666710	0.88251	.	.	ENSG00000006047	ENST00000007699	T	0.32753	1.44	4.52	3.55	0.40652	.	0.074699	0.53938	D	0.000043	T	0.28001	0.0690	M	0.81614	2.55	0.38364	D	0.944692	P	0.44429	0.835	B	0.25405	0.06	T	0.43861	-0.9365	10	0.56958	D	0.05	-2.1044	10.756	0.46237	0.0:0.9061:0.0:0.0939	.	182	Q9Y2T7	YBOX2_HUMAN	Q	182	ENSP00000007699:R182Q	ENSP00000007699:R182Q	R	-	2	0	YBX2	7134493	0.435000	0.25577	0.999000	0.59377	0.908000	0.53690	4.429000	0.59901	1.280000	0.44463	0.561000	0.74099	CGA		0.642	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		4	81	0	0	0	0.000602	0	4	81				
ABCA13	154664	broad.mit.edu	37	7	48320993	48320993	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:48320993T>C	ENST00000435803.1	+	19	8804	c.8780T>C	c.(8779-8781)aTg>aCg	p.M2927T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2927					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGAAGCCATGGAGATGCTG	0.438																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(8779-8781)aTg>aCg		ATP-binding cassette, sub-family A (ABC1), member 13							125.0	119.0	121.0					7																	48320993		2003	4201	6204	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48320993T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8780T>C	7.37:g.48320993T>C	ENSP00000411096:p.Met2927Thr						p.M2927T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			19	8804	+			2927					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.8780T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	8.123	0.781358	0.16120	.	.	ENSG00000179869	ENST00000435803	D	0.86164	-2.08	4.29	1.85	0.25348	.	1.897850	0.02448	N	0.085235	T	0.79040	0.4379	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.21452	0.056;0.033	B;B	0.20955	0.032;0.014	T	0.65573	-0.6135	10	0.87932	D	0	.	3.7281	0.08482	0.1886:0.104:0.0:0.7074	.	629;2927	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	2927	ENSP00000411096:M2927T	ENSP00000411096:M2927T	M	+	2	0	ABCA13	48291539	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.142000	0.10311	0.269000	0.21961	-0.256000	0.11100	ATG		0.438	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	25	0	0	0	0.000248	0	4	25				
MUC17	140453	broad.mit.edu	37	7	100679593	100679593	+	Silent	SNP	A	A	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:100679593A>G	ENST00000306151.4	+	3	4960	c.4896A>G	c.(4894-4896)ctA>ctG	p.L1632L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1632	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)					GAAGTCCTCTATTAACAAGTA	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.(4894-4896)ctA>ctG		mucin 17, cell surface associated							223.0	231.0	228.0					7																	100679593		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679593A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4896A>G	7.37:g.100679593A>G							p.L1632L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4960	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1632			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.4896A>G	CCDS34711.1																																																																																				0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		64	557	0	0	0	0.003610	0	64	557				
IRX6	79190	broad.mit.edu	37	16	55361633	55361633	+	Silent	SNP	C	C	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:55361633C>G	ENST00000290552.7	+	4	1881	c.549C>G	c.(547-549)gcC>gcG	p.A183A	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	183					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TCATGCTGGCCATCATCACCA	0.572																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(547-549)gcC>gcG		iroquois homeobox 6							146.0	114.0	125.0					16																	55361633		2198	4300	6498	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361633C>G	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.549C>G	16.37:g.55361633C>G						RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	p.A183A	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			4	1881	+			183					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.549C>G	CCDS32449.1																																																																																				0.572	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		21	103	0	0	0	0.001523	0	21	103				
TMEM47	83604	broad.mit.edu	37	X	34648526	34648526	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:34648526G>T	ENST00000275954.3	-	3	708	c.450C>A	c.(448-450)aaC>aaA	p.N150K		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	150						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CATAACCCCAGTTGAACTCAT	0.428																																						ENST00000275954.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(448-450)aaC>aaA		transmembrane protein 47							112.0	103.0	106.0					X																	34648526		2202	4300	6502	SO:0001583	missense	83604					integral to membrane		g.chrX:34648526G>T	AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"""transmembrane 4 superfamily member 10"""	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.450C>A	X.37:g.34648526G>T	ENSP00000275954:p.Asn150Lys						p.N150K	NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN			3	708	-			150					Q5JR44	Missense_Mutation	SNP	ENST00000275954.3	37	c.450C>A	CCDS14235.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983059	0.53827	.	.	ENSG00000147027	ENST00000275954	T	0.68479	-0.33	5.39	-7.06	0.01568	.	0.000000	0.85682	D	0.000000	T	0.74215	0.3687	M	0.69823	2.125	0.58432	D	0.999992	D	0.61697	0.99	P	0.62382	0.901	T	0.79470	-0.1790	10	0.46703	T	0.11	-8.1841	18.2907	0.90129	0.1617:0.0:0.8383:0.0	.	150	Q9BQJ4	TMM47_HUMAN	K	150	ENSP00000275954:N150K	ENSP00000275954:N150K	N	-	3	2	TMEM47	34558447	1.000000	0.71417	0.940000	0.37924	0.977000	0.68977	1.231000	0.32624	-1.251000	0.02494	-0.735000	0.03563	AAC		0.428	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056209.1	NM_031442		21	115	1	0	3.62473e-10	0.001882	4.91093e-10	21	115				
CENPJ	55835	broad.mit.edu	37	13	25479612	25479612	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:25479612C>G	ENST00000381884.4	-	7	2749	c.2564G>C	c.(2563-2565)aGg>aCg	p.R855T	CENPJ_ENST00000545981.1_Missense_Mutation_p.R855T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	855					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTGCTCCTCCTGGACTTGCT	0.428																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2563-2565)aGg>aCg		centromere protein J							132.0	118.0	122.0					13																	25479612		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25479612C>G	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.2564G>C	13.37:g.25479612C>G	ENSP00000371308:p.Arg855Thr					CENPJ_ENST00000545981.1_Missense_Mutation_p.R855T	p.R855T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	2749	-		Lung SC(185;0.0225)|Breast(139;0.0602)	855					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.2564G>C	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	1.353	-0.590940	0.03799	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.64085	-0.08;-0.08	5.44	0.575	0.17374	.	0.771349	0.12043	N	0.504890	T	0.39436	0.1078	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17961	-1.0352	10	0.14252	T	0.57	.	1.2916	0.02061	0.2557:0.4118:0.1247:0.2077	.	855	Q9HC77	CENPJ_HUMAN	T	855	ENSP00000371308:R855T;ENSP00000441090:R855T	ENSP00000371308:R855T	R	-	2	0	CENPJ	24377612	0.000000	0.05858	0.000000	0.03702	0.619000	0.37552	0.406000	0.21032	-0.148000	0.11234	0.655000	0.94253	AGG		0.428	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		11	67	0	0	0	0.008291	0	11	67				
TSHZ2	128553	broad.mit.edu	37	20	51872726	51872726	+	Missense_Mutation	SNP	C	C	T	rs367984099		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr20:51872726C>T	ENST00000371497.5	+	2	3616	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	TSHZ2_ENST00000603338.2_Missense_Mutation_p.T907M|TSHZ2_ENST00000329613.6_Missense_Mutation_p.T907M|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	910					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTTAGGAAAACGGGCGGGACA	0.488																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(2728-2730)aCg>aTg		teashirt zinc finger homeobox 2		C	MET/THR,MET/THR	0,4406		0,0,2203	69.0	70.0	70.0		2720,2729	5.8	1.0	20		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	907/1032,910/1035	51872726	1,13005	2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872726C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2729C>T	20.37:g.51872726C>T	ENSP00000360552:p.Thr910Met					RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.T907M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.T907M	p.T910M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3616	+			910					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2729C>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.871973	0.72180	0.0	1.16E-4	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.24723	1.85;1.84	5.8	5.8	0.92144	Homeobox (1);	0.047096	0.85682	D	0.000000	T	0.43765	0.1262	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.26360	-1.0105	10	0.87932	D	0	-5.5554	20.0431	0.97598	0.0:1.0:0.0:0.0	.	910	Q9NRE2	TSH2_HUMAN	M	910;907;436	ENSP00000360552:T910M;ENSP00000333114:T907M	ENSP00000333114:T907M	T	+	2	0	TSHZ2	51306133	1.000000	0.71417	0.989000	0.46669	0.843000	0.47879	7.482000	0.81143	2.732000	0.93576	0.643000	0.83706	ACG		0.488	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		7	65	0	0	0	0.004482	0	7	65				
ANXA1	301	broad.mit.edu	37	9	75783993	75783993	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:75783993C>T	ENST00000376911.1	+	11	1789	c.907C>T	c.(907-909)Cgt>Tgt	p.R303C	ANXA1_ENST00000257497.6_Missense_Mutation_p.R303C|ANXA1_ENST00000491192.1_3'UTR			P04083	ANXA1_HUMAN	annexin A1	303					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.R303S(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	TATGGTTTCCCGTTCTGAAAT	0.388																																						ENST00000376911.1																			1	Substitution - Missense(1)	p.R303S(1)	lung(1)	breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8						c.(907-909)Cgt>Tgt		annexin A1	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						230.0	210.0	217.0					9																	75783993		2203	4300	6503	SO:0001583	missense	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75783993C>T	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.907C>T	9.37:g.75783993C>T	ENSP00000366109:p.Arg303Cys					ANXA1_ENST00000257497.6_Missense_Mutation_p.R303C|ANXA1_ENST00000491192.1_3'UTR	p.R303C			P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	11	1789	+		all_epithelial(88;2.54e-11)	303						Missense_Mutation	SNP	ENST00000376911.1	37	c.907C>T	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744472	0.89663	.	.	ENSG00000135046	ENST00000257497;ENST00000376911	T;T	0.12879	2.64;2.64	5.97	5.08	0.68730	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61657	-0.7018	10	0.87932	D	0	.	14.9487	0.71054	0.0:0.9321:0.0:0.0679	.	303	P04083	ANXA1_HUMAN	C	303	ENSP00000257497:R303C;ENSP00000366109:R303C	ENSP00000257497:R303C	R	+	1	0	ANXA1	74973813	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.929000	0.75852	1.540000	0.49301	0.655000	0.94253	CGT		0.388	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		29	126	0	0	0	0.006320	0	29	126				
DUOX2	50506	broad.mit.edu	37	15	45389890	45389890	+	Silent	SNP	G	G	A	rs201261436	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:45389890G>A	ENST00000603300.1	-	28	3817	c.3615C>T	c.(3613-3615)ttC>ttT	p.F1205F	DUOX2_ENST00000389039.6_Silent_p.F1205F	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1205	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGTGGGAGGCGAAGACATACA	0.617													G|||	12	0.00239617	0.0	0.0	5008	,	,		15962	0.0		0.0	False		,,,				2504	0.0123					ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(3613-3615)ttC>ttT		dual oxidase 2							83.0	80.0	81.0					15																	45389890		2198	4298	6496	SO:0001819	synonymous_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45389890G>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3615C>T	15.37:g.45389890G>A						DUOX2_ENST00000603300.1_Silent_p.F1205F	p.F1205F			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	28	4000	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1205			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.3615C>T	CCDS10117.1																																																																																				0.617	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		28	83	0	0	0	0.007291	0	28	83				
FAM47B	170062	broad.mit.edu	37	X	34962764	34962764	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:34962764G>A	ENST00000329357.5	+	1	1852	c.1816G>A	c.(1816-1818)Gtc>Atc	p.V606I		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	606								p.V606I(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AATGCCTGGCGTCATTGAAAA	0.438													G|||	1	0.000264901	0.0	0.0	3775	,	,		14814	0.0		0.0	False		,,,				2504	0.001					ENST00000329357.5																			1	Substitution - Missense(1)	p.V606I(1)	large_intestine(1)	breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1816-1818)Gtc>Atc		family with sequence similarity 47, member B							154.0	143.0	147.0					X																	34962764		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962764G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1816G>A	X.37:g.34962764G>A	ENSP00000328307:p.Val606Ile						p.V606I	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1852	+			606					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1816G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.508113	0.00010	.	.	ENSG00000189132	ENST00000329357	T	0.14516	2.5	0.843	-1.69	0.08186	.	.	.	.	.	T	0.01870	0.0059	N	0.00289	-1.7	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.18429	-1.0337	8	0.02654	T	1	.	.	.	.	.	606	Q8NA70	FA47B_HUMAN	I	606	ENSP00000328307:V606I	ENSP00000328307:V606I	V	+	1	0	FAM47B	34872685	0.278000	0.24230	0.000000	0.03702	0.028000	0.11728	-0.546000	0.06062	-2.672000	0.00413	-1.891000	0.00535	GTC		0.438	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		51	233	0	0	0	0.003610	0	51	233				
PLXNA3	55558	broad.mit.edu	37	X	153698493	153698493	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:153698493C>T	ENST00000369682.3	+	29	5144	c.4969C>T	c.(4969-4971)Cgg>Tgg	p.R1657W	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1657					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACCTGACACGGCTGCTGGC	0.617																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(4969-4971)Cgg>Tgg		plexin A3							48.0	41.0	43.0					X																	153698493		2202	4300	6502	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153698493C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4969C>T	X.37:g.153698493C>T	ENSP00000358696:p.Arg1657Trp					PLXNA3_ENST00000493546.1_3'UTR	p.R1657W	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			29	5144	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1657					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.4969C>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942935	0.73672	.	.	ENSG00000130827	ENST00000369682	T	0.19250	2.16	5.02	4.07	0.47477	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63265	-0.6676	10	0.87932	D	0	.	12.1032	0.53796	0.2153:0.7847:0.0:0.0	.	1657	P51805	PLXA3_HUMAN	W	1657	ENSP00000358696:R1657W	ENSP00000358696:R1657W	R	+	1	2	PLXNA3	153351687	0.942000	0.31987	0.147000	0.22382	0.922000	0.55478	2.161000	0.42358	0.737000	0.32582	0.529000	0.55759	CGG		0.617	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		9	48	0	0	0	0.006214	0	9	48				
SNX29	92017	broad.mit.edu	37	16	12571690	12571690	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:12571690C>G	ENST00000566228.1	+	19	2221	c.2152C>G	c.(2152-2154)Cca>Gca	p.P718A	SNX29_ENST00000323433.4_Missense_Mutation_p.P333A|SNX29_ENST00000306030.3_Missense_Mutation_p.P333A	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	718	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTACAACTTCCCACCCAAAAA	0.438																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(2152-2154)Cca>Gca		sorting nexin 29							55.0	53.0	54.0					16																	12571690		1892	4116	6008	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12571690C>G	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2152C>G	16.37:g.12571690C>G	ENSP00000456480:p.Pro718Ala					SNX29_ENST00000306030.3_Missense_Mutation_p.P333A|SNX29_ENST00000323433.4_Missense_Mutation_p.P333A	p.P718A	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			19	2221	+			333					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.2152C>G	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743710	0.89663	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	T;T	0.72505	-0.66;-0.66	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.89873	0.6841	H	0.96861	3.895	0.44098	D	0.996869	.	.	.	.	.	.	D	0.92687	0.6163	8	0.87932	D	0	-9.924	17.6471	0.88151	0.0:1.0:0.0:0.0	.	.	.	.	A	333	ENSP00000306940:P333A;ENSP00000322226:P333A	ENSP00000306940:P333A	P	+	1	0	SNX29	12479191	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.303000	0.78871	2.758000	0.94735	0.655000	0.94253	CCA		0.438	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			6	36	0	0	0	0.001984	0	6	36				
RP11-423O2.5	0	broad.mit.edu	37	1	142803596	142803596	+	lincRNA	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:142803596C>T	ENST00000423385.1	-	0	1369																											ATTATGTTAACTAAGAAAATA	0.289																																						ENST00000423385.1																			0																																																			0							g.chr1:142803596C>T																													1.37:g.142803596C>T														0	1369	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.289	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			6	63	0	0	0	0.001168	0	6	63				
C2	717	broad.mit.edu	37	6	31912793	31912793	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:31912793T>A	ENST00000299367.5	+	17	2342	c.2066T>A	c.(2065-2067)tTc>tAc	p.F689Y	C2_ENST00000452323.2_Missense_Mutation_p.F475Y|C2_ENST00000469372.1_Missense_Mutation_p.F443Y|CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.F557Y|CFB_ENST00000425368.2_5'Flank|C2_ENST00000468407.1_3'UTR|CFB_ENST00000556679.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	689	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GAGCGGAGATTCAGGTTTTTT	0.547																																						ENST00000299367.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27						c.(2065-2067)tTc>tAc		complement component 2							143.0	156.0	152.0					6																	31912793		1509	2709	4218	SO:0001583	missense	717							g.chr6:31912793T>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.2066T>A	6.37:g.31912793T>A	ENSP00000299367:p.Phe689Tyr					C2_ENST00000452323.2_Missense_Mutation_p.F475Y|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.F443Y|CFB_ENST00000477310.1_Intron|C2_ENST00000468407.1_3'UTR|C2_ENST00000442278.2_Missense_Mutation_p.F557Y|CFB_ENST00000556679.1_Intron	p.F689Y	NM_000063.4	NP_000054.2				LUAD - Lung adenocarcinoma(999;0.247)	17	2342	+		Ovarian(999;0.00965)						B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.2066T>A	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.704|3.704	-0.060947|-0.060947	0.07317|0.07317	.|.	.|.	ENSG00000166278|ENSG00000166278	ENST00000469372;ENST00000452323;ENST00000299367;ENST00000442278|ENST00000383177	T;T;T;T|.	0.28666|.	1.6;1.6;1.6;1.6|.	5.41|5.41	-0.576|-0.576	0.11731|0.11731	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	1.034950|.	0.07707|.	N|.	0.941436|.	T|T	0.05731|0.05731	0.0150|0.0150	N|N	0.01649|0.01649	-0.78|-0.78	0.46149|0.46149	D|D	0.998898|0.998898	B;B;B;B;B;B|.	0.10296|.	0.003;0.001;0.002;0.0;0.001;0.0|.	B;B;B;B;B;B|.	0.12837|.	0.008;0.008;0.006;0.006;0.006;0.001|.	T|T	0.18085|0.18085	-1.0348|-1.0348	10|5	0.02654|.	T|.	1|.	-5.031|-5.031	5.3354|5.3354	0.15955|0.15955	0.6175:0.0966:0.0:0.2859|0.6175:0.0966:0.0:0.2859	.|.	660;475;443;557;557;689|.	B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681|.	.;.;.;.;.;CO2_HUMAN|.	Y|T	443;475;689;557|463	ENSP00000418923:F443Y;ENSP00000392322:F475Y;ENSP00000299367:F689Y;ENSP00000395683:F557Y|.	ENSP00000299367:F689Y|.	F|S	+|+	2|1	0|0	C2|C2	32020772|32020772	0.001000|0.001000	0.12720|0.12720	0.363000|0.363000	0.25875|0.25875	0.974000|0.974000	0.67602|0.67602	-0.830000|-0.830000	0.04410|0.04410	-0.027000|-0.027000	0.13873|0.13873	0.383000|0.383000	0.25322|0.25322	TTC|TCA		0.547	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			38	152	0	0	0	0.006999	0	38	152				
PIP4K2C	79837	broad.mit.edu	37	12	57989740	57989740	+	Missense_Mutation	SNP	C	C	T	rs144510690		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:57989740C>T	ENST00000354947.5	+	4	455	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R129W|PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R147W			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	147	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CTCCTACGATCGGACTCTGGT	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		17852	0.001		0.0	False		,,,				2504	0.0					ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(439-441)Cgg>Tgg		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma		C	TRP/ARG,TRP/ARG,,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	176.0	153.0	161.0		439,385,,439	4.4	1.0	12	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,intron,missense	PIP4K2C	NM_001146258.1,NM_001146259.1,NM_001146260.1,NM_024779.4	101,101,,101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,,probably-damaging	147/422,129/404,,147/422	57989740	2,13004	2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57989740C>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.439C>T	12.37:g.57989740C>T	ENSP00000347032:p.Arg147Trp					PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R129W|PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R147W	p.R147W			Q8TBX8	PI42C_HUMAN			4	455	+	Melanoma(17;0.122)		147			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.439C>T	CCDS8946.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	22.5	4.292082	0.80914	2.27E-4	1.16E-4	ENSG00000166908	ENST00000540759;ENST00000436866;ENST00000551772;ENST00000550465;ENST00000354947	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.35	4.4	0.53042	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.062416	0.64402	D	0.000007	T	0.54382	0.1855	M	0.81341	2.54	0.52501	D	0.999953	D;D	0.76494	0.999;0.998	D;D	0.72625	0.948;0.978	T	0.58008	-0.7712	10	0.72032	D	0.01	-11.9374	11.2869	0.49226	0.3256:0.6744:0.0:0.0	.	129;147	B4DY44;Q8TBX8	.;PI42C_HUMAN	W	147;147;126;129;147	ENSP00000439878:R147W;ENSP00000450197:R126W;ENSP00000447390:R129W;ENSP00000347032:R147W	ENSP00000347032:R147W	R	+	1	2	PIP4K2C	56276007	0.998000	0.40836	1.000000	0.80357	0.922000	0.55478	0.592000	0.23984	2.683000	0.91414	0.455000	0.32223	CGG		0.522	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		25	111	0	0	0	0.003954	0	25	111				
IL1RL1	9173	broad.mit.edu	37	2	102957203	102957203	+	Silent	SNP	C	C	T	rs200131845	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:102957203C>T	ENST00000233954.1	+	5	796	c.525C>T	c.(523-525)gaC>gaT	p.D175D	IL1RL1_ENST00000404917.2_Silent_p.D58D|IL1RL1_ENST00000311734.2_Silent_p.D175D|IL1RL1_ENST00000393393.3_Silent_p.D175D|IL1RL1_ENST00000409584.1_Silent_p.D175D	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	175	Ig-like C2-type 2.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TGACTGAGGACGCAGGTGATT	0.423													c|||	4	0.000798722	0.0	0.0	5008	,	,		19085	0.0		0.001	False		,,,				2504	0.0031					ENST00000311734.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(523-525)gaC>gaT		interleukin 1 receptor-like 1		C	,	0,4406		0,0,2203	132.0	125.0	128.0		525,525	-3.6	0.0	2		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IL1RL1	NM_003856.2,NM_016232.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	175/329,175/557	102957203	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102957203C>T	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.525C>T	2.37:g.102957203C>T						IL1RL1_ENST00000409584.1_Silent_p.D175D|IL1RL1_ENST00000404917.2_Silent_p.D58D|IL1RL1_ENST00000393393.3_Silent_p.D175D|IL1RL1_ENST00000233954.1_Silent_p.D175D	p.D175D			Q01638	ILRL1_HUMAN			5	864	+			175			Ig-like C2-type 2.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Silent	SNP	ENST00000233954.1	37	c.525C>T	CCDS2057.1																																																																																				0.423	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		21	89	0	0	0	0.002780	0	21	89				
NF1	4763	broad.mit.edu	37	17	29553568	29553568	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:29553568C>T	ENST00000358273.4	+	18	2500	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	NF1_ENST00000356175.3_Missense_Mutation_p.A706V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	706					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTCTGGTTGCCATGTCCTGT	0.527			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2116-2118)gCc>gTc		neurofibromin 1							98.0	94.0	95.0					17																	29553568		2203	4297	6500	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29553568C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2117C>T	17.37:g.29553568C>T	ENSP00000351015:p.Ala706Val	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.A706V	p.A706V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	18	2500	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	706					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2117C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355934	0.95854	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.73363	-0.74;-0.74;2.78	5.69	5.69	0.88448	Armadillo-type fold (1);	0.053537	0.85682	D	0.000000	T	0.78162	0.4240	N	0.16790	0.44	0.80722	D	1	D;D;D	0.67145	0.969;0.996;0.973	P;D;P	0.73380	0.787;0.98;0.576	T	0.79303	-0.1859	10	0.45353	T	0.12	.	19.8215	0.96599	0.0:1.0:0.0:0.0	.	706;706;706	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	V	706;706;372	ENSP00000351015:A706V;ENSP00000348498:A706V;ENSP00000389907:A372V	ENSP00000348498:A706V	A	+	2	0	NF1	26577694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.625000	0.67770	2.679000	0.91253	0.650000	0.86243	GCC		0.527	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		6	161	0	0	0	0.000978	0	6	161				
CHST10	9486	broad.mit.edu	37	2	101009737	101009737	+	Silent	SNP	C	C	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:101009737C>A	ENST00000264249.3	-	7	1426	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G	CHST10_ENST00000409701.1_Silent_p.G347G|CHST10_ENST00000542617.1_Silent_p.G395G	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	347					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GTTTCTGGTACCCAAAGAGCT	0.448																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(1039-1041)ggG>ggT		carbohydrate sulfotransferase 10							118.0	117.0	117.0					2																	101009737		2203	4300	6503	SO:0001819	synonymous_variant	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101009737C>A	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.1041G>T	2.37:g.101009737C>A						CHST10_ENST00000542617.1_Silent_p.G395G|CHST10_ENST00000409701.1_Silent_p.G347G	p.G347G	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1426	-			347					Q53T18	Silent	SNP	ENST00000264249.3	37	c.1041G>T	CCDS2047.1																																																																																				0.448	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		14	101	1	0	6.49762e-13	0.006122	8.89891e-13	14	101				
ACACB	32	broad.mit.edu	37	12	109625810	109625810	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:109625810A>G	ENST00000338432.7	+	13	2106	c.1987A>G	c.(1987-1989)Aag>Gag	p.K663E	ACACB_ENST00000377854.5_Missense_Mutation_p.K663E|ACACB_ENST00000377848.3_Missense_Mutation_p.K663E			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	663	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCAGGGTTTTAAGCCGAGCTC	0.498																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1987-1989)Aag>Gag		acetyl-CoA carboxylase beta	Biotin(DB00121)						63.0	66.0	64.0					12																	109625810		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109625810A>G	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1987A>G	12.37:g.109625810A>G	ENSP00000341044:p.Lys663Glu					ACACB_ENST00000377848.3_Missense_Mutation_p.K663E|ACACB_ENST00000377854.5_Missense_Mutation_p.K663E	p.K663E			O00763	ACACB_HUMAN			13	2106	+			663			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.1987A>G	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	a	25.5	4.646118	0.87958	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.81247	-1.47;-1.47;-1.47	5.27	5.27	0.74061	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.046816	0.85682	D	0.000000	D	0.88232	0.6381	M	0.91972	3.26	0.80722	D	1	P	0.37398	0.593	P	0.45998	0.5	D	0.90308	0.4335	10	0.87932	D	0	.	14.9629	0.71169	1.0:0.0:0.0:0.0	.	663	O00763	ACACB_HUMAN	E	663	ENSP00000341044:K663E;ENSP00000367079:K663E;ENSP00000367085:K663E	ENSP00000341044:K663E	K	+	1	0	ACACB	108110193	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.254000	0.95512	2.030000	0.59900	0.434000	0.28630	AAG		0.498	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		3	82	0	0	0	0.004672	0	3	82				
LRFN5	145581	broad.mit.edu	37	14	42355895	42355895	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:42355895C>T	ENST00000298119.4	+	3	1256	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	LRFN5_ENST00000554120.1_Missense_Mutation_p.R23C|LRFN5_ENST00000554171.1_Missense_Mutation_p.R23C	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	23	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTCCAAAGCGTTGTGTCTG	0.398										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(67-69)Cgt>Tgt		leucine rich repeat and fibronectin type III domain containing 5							92.0	83.0	86.0					14																	42355895		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42355895C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.67C>T	14.37:g.42355895C>T	ENSP00000298119:p.Arg23Cys	HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Missense_Mutation_p.R23C|LRFN5_ENST00000554120.1_Missense_Mutation_p.R23C	p.R23C			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2499	+			23			LRRNT.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.67C>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799459	0.50208	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.53640	0.73;0.61;0.61	5.56	5.56	0.83823	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.56097	D	0.000022	T	0.48572	0.1507	M	0.72894	2.215	0.80722	D	1	B;P	0.42010	0.397;0.768	B;B	0.36464	0.17;0.225	T	0.53718	-0.8399	10	0.44086	T	0.13	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	23;23	G3V364;Q96NI6	.;LRFN5_HUMAN	C	23	ENSP00000298119:R23C;ENSP00000451897:R23C;ENSP00000451067:R23C	ENSP00000298119:R23C	R	+	1	0	LRFN5	41425645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.595000	0.87683	0.650000	0.86243	CGT		0.398	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		5	35	0	0	0	0.001168	0	5	35				
KMT2E	55904	broad.mit.edu	37	7	104753522	104753522	+	Silent	SNP	G	G	A	rs369015069		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:104753522G>A	ENST00000311117.3	+	27	5864	c.5319G>A	c.(5317-5319)ccG>ccA	p.P1773P	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Silent_p.P1773P|KMT2E_ENST00000334877.4_Silent_p.P1731P	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1773	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CTTTGGGACCGGGACCCCAGC	0.532																																						ENST00000334877.4																			0											c.(5191-5193)ccG>ccA		lysine (K)-specific methyltransferase 2E		G	,	1,4405	2.1+/-5.4	0,1,2202	211.0	178.0	190.0		5319,5319	0.9	1.0	7		190	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MLL5	NM_018682.3,NM_182931.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1773/1859,1773/1859	104753522	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55904							g.chr7:104753522G>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5319G>A	7.37:g.104753522G>A						SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Silent_p.P1773P|KMT2E_ENST00000311117.3_Silent_p.P1773P	p.P1731P							26	5727	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.5193G>A	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	4.128	0.021921	0.08006	2.27E-4	0.0	ENSG00000005483	ENST00000393656	.	.	.	4.1	0.883	0.19177	.	.	.	.	.	T	0.56978	0.2022	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54098	-0.8344	5	0.38643	T	0.18	.	7.847	0.29431	0.0:0.3197:0.3954:0.2849	.	.	.	.	Q	1556	.	ENSP00000377266:R1556Q	R	+	2	0	MLL5	104540758	0.959000	0.32827	1.000000	0.80357	0.950000	0.60333	0.060000	0.14342	0.806000	0.34183	0.557000	0.71058	CGG		0.532	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			40	206	0	0	0	0.002852	0	40	206				
FLNC	2318	broad.mit.edu	37	7	128489530	128489530	+	Silent	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:128489530C>T	ENST00000325888.8	+	30	5358	c.5097C>T	c.(5095-5097)gaC>gaT	p.D1699D	FLNC_ENST00000346177.6_Silent_p.D1699D|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1699					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAACCATGACGGTACCTTTG	0.612																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5095-5097)gaC>gaT		filamin C, gamma							95.0	112.0	106.0					7																	128489530		2185	4259	6444	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128489530C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5097C>T	7.37:g.128489530C>T						FLNC_ENST00000346177.6_Silent_p.D1699D	p.D1699D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			30	5358	+			1699					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5097C>T	CCDS43644.1																																																																																				0.612	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			10	88	0	0	0	0.000978	0	10	88				
ZNF812	729648	broad.mit.edu	37	19	9801841	9801841	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr19:9801841A>G	ENST00000457674.2	-	5	856	c.338T>C	c.(337-339)aTc>aCc	p.I113T	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	113	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						ACCCTCAAAGATGTTCCCTCC	0.418																																						ENST00000457674.2																			0				ovary(1)	1						c.(337-339)aTc>aCc		zinc finger protein 812																																				SO:0001583	missense	729648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9801841A>G		CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.338T>C	19.37:g.9801841A>G	ENSP00000395629:p.Ile113Thr					ZNF812_ENST00000536819.1_5'UTR	p.I113T	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN			5	856	-			113			KRAB.			Missense_Mutation	SNP	ENST00000457674.2	37	c.338T>C	CCDS54215.1	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.638707	0.00799	.	.	ENSG00000224689	ENST00000457674	T	0.28255	1.62	1.71	-3.39	0.04868	Krueppel-associated box (1);	.	.	.	.	T	0.11324	0.0276	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	9	0.62326	D	0.03	.	2.8145	0.05452	0.5023:0.0:0.2816:0.2161	.	113	P0C7V5	ZN812_HUMAN	T	113	ENSP00000395629:I113T	ENSP00000395629:I113T	I	-	2	0	ZNF812	9662841	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.432000	0.21461	-0.357000	0.08175	-1.232000	0.01568	ATC		0.418	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396726.1			3	83	0	0	0	0.004672	0	3	83				
USP6	9098	broad.mit.edu	37	17	5072170	5072170	+	Nonsense_Mutation	SNP	C	C	T	rs377066075		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:5072170C>T	ENST00000574788.1	+	35	5567	c.3337C>T	c.(3337-3339)Cga>Tga	p.R1113*	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Nonsense_Mutation_p.R1113*|USP6_ENST00000304328.5_Nonsense_Mutation_p.R796*			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1113	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTGGTACCACGAGACCCGGC	0.473			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(3337-3339)Cga>Tga		ubiquitin specific peptidase 6 (Tre-2 oncogene)		C	stop/ARG	0,4406		0,0,2203	107.0	117.0	114.0		3337	1.2	0.9	17		114	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	USP6	NM_004505.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1113/1407	5072170	1,13005	2203	4300	6503	SO:0001587	stop_gained	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5072170C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3337C>T	17.37:g.5072170C>T	ENSP00000460380:p.Arg1113*					USP6_ENST00000304328.5_Nonsense_Mutation_p.R796*|USP6_ENST00000250066.6_Nonsense_Mutation_p.R1113*|USP6_ENST00000332776.4_3'UTR	p.R1113*			P35125	UBP6_HUMAN			35	5567	+			1113					Q15634|Q86WP6|Q8IWT4	Nonsense_Mutation	SNP	ENST00000574788.1	37	c.3337C>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	50	17.228432	0.99882	0.0	1.16E-4	ENSG00000129204	ENST00000250066;ENST00000304328	.	.	.	2.35	1.17	0.20885	.	0.041542	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6684	0.23054	0.7529:0.2471:0.0:0.0	.	.	.	.	X	1113;796	.	ENSP00000250066:R1113X	R	+	1	2	USP6	5012894	1.000000	0.71417	0.922000	0.36590	0.070000	0.16714	1.902000	0.39848	0.156000	0.19299	-1.296000	0.01341	CGA		0.473	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		43	211	0	0	0	0.002852	0	43	211				
TTN	7273	broad.mit.edu	37	2	179396156	179396156	+	Silent	SNP	A	A	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:179396156A>G	ENST00000591111.1	-	308	100487	c.100263T>C	c.(100261-100263)taT>taC	p.Y33421Y	TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Silent_p.Y32494Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000589042.1_Silent_p.Y35062Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Silent_p.Y26189Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.Y25997Y|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Silent_p.Y26122Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589355.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33421					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)			ATGAAACAGCATACGCCTCTG	0.473																																						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.(105184-105186)taT>taC		titin							118.0	117.0	117.0					2																	179396156		1916	4129	6045	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396156A>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.100263T>C	2.37:g.179396156A>G						TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.Y33421Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Silent_p.Y26122Y|TTN_ENST00000342992.6_Silent_p.Y32494Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000460472.2_Silent_p.Y25997Y|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342175.6_Silent_p.Y26189Y|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA	p.Y35062Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	105410	-			33421					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.105186T>C																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	120	0	0	0	0.002445	0	33	120				
PCDHA1	56147	broad.mit.edu	37	5	140166068	140166068	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140166068C>T	ENST00000504120.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R65W|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R65W	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCCTGTTCCGGGTGGCGTC	0.587																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(193-195)Cgg>Tgg									64.0	70.0	68.0					5																	140166068		2203	4300	6503	SO:0001583	missense	0							g.chr5:140166068C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.193C>T	5.37:g.140166068C>T	ENSP00000420840:p.Arg65Trp					PCDHA1_ENST00000378133.3_Missense_Mutation_p.R65W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R65W	p.R65W	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	193	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.193C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	16.31	3.087844	0.55968	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.38887	1.11;1.11;1.11	4.31	3.4	0.38934	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.38897	U	0.001524	T	0.77294	0.4109	H	0.99225	4.475	0.38284	D	0.94251	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.997	D	0.85301	0.1073	10	0.87932	D	0	.	11.3419	0.49537	0.3419:0.6581:0.0:0.0	.	65;65;65	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	W	65	ENSP00000420840:R65W;ENSP00000378129:R65W;ENSP00000367373:R65W	ENSP00000367373:R65W	R	+	1	2	PCDHA1	140146252	0.998000	0.40836	1.000000	0.80357	0.546000	0.35178	3.201000	0.51059	0.876000	0.35872	0.650000	0.86243	CGG		0.587	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		30	119	0	0	0	0.002096	0	30	119				
SRBD1	55133	broad.mit.edu	37	2	45616592	45616592	+	Nonsense_Mutation	SNP	G	G	A	rs573722234		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:45616592G>A	ENST00000263736.4	-	21	2907	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	SRBD1_ENST00000535761.1_Nonsense_Mutation_p.R468*|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	949	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTTACATTTCGTATGGGAATC	0.433																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(2845-2847)Cga>Tga		S1 RNA binding domain 1							84.0	83.0	84.0					2																	45616592		2203	4300	6503	SO:0001587	stop_gained	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45616592G>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2845C>T	2.37:g.45616592G>A	ENSP00000263736:p.Arg949*					SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Nonsense_Mutation_p.R468*	p.R949*	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		21	2907	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	949			S1 motif.		Q53T56|Q96TA4|Q9NW11	Nonsense_Mutation	SNP	ENST00000263736.4	37	c.2845C>T	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505197	0.85282	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	.	.	.	4.14	1.22	0.21188	.	0.067065	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	13.4287	0.61042	0.0:0.0:0.5902:0.4098	.	.	.	.	X	949;468	.	ENSP00000263736:R949X	R	-	1	2	SRBD1	45470096	1.000000	0.71417	0.996000	0.52242	0.396000	0.30629	1.422000	0.34826	0.255000	0.21593	-0.261000	0.10672	CGA		0.433	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		15	65	0	0	0	0.003163	0	15	65				
CLEC14A	161198	broad.mit.edu	37	14	38724284	38724284	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:38724284G>A	ENST00000342213.2	-	1	1290	c.944C>T	c.(943-945)cCg>cTg	p.P315L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	315						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGTTCTCTGCGGCACGGGGCT	0.617																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(943-945)cCg>cTg		C-type lectin domain family 14, member A							67.0	68.0	68.0					14																	38724284		2201	4299	6500	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724284G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.944C>T	14.37:g.38724284G>A	ENSP00000353013:p.Pro315Leu						p.P315L	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1290	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		315					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.944C>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	9.059	0.994113	0.19043	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.73469	-0.75	4.05	-2.48	0.06423	.	0.546118	0.13848	N	0.358541	T	0.56717	0.2004	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.14578	0.011	T	0.42582	-0.9443	10	0.62326	D	0.03	-2.3771	6.0792	0.19933	0.1546:0.0:0.3888:0.4567	.	315	Q86T13	CLC14_HUMAN	L	315;80	ENSP00000353013:P315L	ENSP00000353013:P315L	P	-	2	0	CLEC14A	37794035	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.258000	0.18387	-0.872000	0.04037	-3.620000	0.00027	CCG		0.617	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		21	123	0	0	0	0.002780	0	21	123				
TLN1	7094	broad.mit.edu	37	9	35717307	35717307	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:35717307C>T	ENST00000314888.9	-	19	2647	c.2294G>A	c.(2293-2295)cGa>cAa	p.R765Q	TLN1_ENST00000540444.1_Missense_Mutation_p.R765Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	765					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTACCCCTCGCAACAGTTG	0.617																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2293-2295)cGa>cAa		talin 1							70.0	68.0	68.0					9																	35717307		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35717307C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2294G>A	9.37:g.35717307C>T	ENSP00000316029:p.Arg765Gln					TLN1_ENST00000540444.1_Missense_Mutation_p.R765Q	p.R765Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		19	2647	-	all_epithelial(49;0.167)		765					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2294G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141821	0.57044	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.66280	-0.2;-0.2	5.6	5.6	0.85130	.	0.137501	0.49305	D	0.000152	T	0.41581	0.1165	N	0.19112	0.55	0.35046	D	0.760223	B	0.10296	0.003	B	0.04013	0.001	T	0.47262	-0.9131	10	0.16896	T	0.51	-10.6937	7.3076	0.26457	0.0:0.7982:0.0:0.2018	.	765	Q9Y490	TLN1_HUMAN	Q	765	ENSP00000316029:R765Q;ENSP00000442981:R765Q	ENSP00000316029:R765Q	R	-	2	0	TLN1	35707307	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.964000	0.63701	2.653000	0.90120	0.561000	0.74099	CGA		0.617	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		29	108	0	0	0	0.002096	0	29	108				
ANKRD18DP	348840	broad.mit.edu	37	3	197803763	197803763	+	RNA	SNP	G	G	A	rs374695729		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:197803763G>A	ENST00000435620.2	-	0	591					NR_003291.1				ankyrin repeat domain 18D, pseudogene																		CAGTGTTGCCGTAGACATCCT	0.458													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17823	0.0		0.0	False		,,,				2504	0.0					ENST00000435620.2																			0															G		1,1383		0,1,691	343.0	250.0	278.0			-2.0	0.0	3		278	0,3182		0,0,1591	no	intergenic				0,1,2282	AA,AG,GG		0.0,0.0723,0.0219			197803763	1,4565	692	1591	2283			0							g.chr3:197803763G>A	BC042518		3q29	2011-11-23			ENSG00000226435	ENSG00000226435			28016	pseudogene	pseudogene							Standard	NR_003291		Approved		uc003fyx.3		OTTHUMG00000150228		3.37:g.197803763G>A								NR_003291.1						0	591	-									RNA	SNP	ENST00000435620.2	37																																																																																						0.458	ANKRD18DP-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316910.2	NR_003291		4	27	0	0	0	0.000248	0	4	27				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	98	0	0	0	0.001168	0	6	98				
UTP20	27340	broad.mit.edu	37	12	101750464	101750464	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:101750464C>G	ENST00000261637.4	+	42	5701	c.5527C>G	c.(5527-5529)Ctg>Gtg	p.L1843V	snoU13_ENST00000458958.1_RNA	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1843					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGAAGCTAATCTGCCAAGGTA	0.363																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(5527-5529)Ctg>Gtg		UTP20, small subunit (SSU) processome component, homolog (yeast)							63.0	65.0	65.0					12																	101750464		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101750464C>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5527C>G	12.37:g.101750464C>G	ENSP00000261637:p.Leu1843Val						p.L1843V	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			42	5701	+			1843					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5527C>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979956	0.53827	.	.	ENSG00000120800	ENST00000261637	T	0.63417	-0.04	5.9	5.02	0.67125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79770	0.4503	M	0.88377	2.95	0.58432	D	0.999991	D	0.89917	1.0	D	0.80764	0.994	T	0.81297	-0.0996	10	0.49607	T	0.09	-9.9148	9.4003	0.38428	0.0:0.7879:0.0:0.2121	.	1843	O75691	UTP20_HUMAN	V	1843	ENSP00000261637:L1843V	ENSP00000261637:L1843V	L	+	1	2	UTP20	100274595	1.000000	0.71417	0.985000	0.45067	0.669000	0.39330	2.301000	0.43628	1.515000	0.48885	-0.140000	0.14226	CTG		0.363	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		3	26	0	0	0	0.000248	0	3	26				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	64	0	0	0	0.000248	0	4	64				
TDRD6	221400	broad.mit.edu	37	6	46655895	46655895	+	Silent	SNP	G	G	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:46655895G>A	ENST00000316081.6	+	1	30	c.30G>A	c.(28-30)ccG>ccA	p.P10P	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Silent_p.P10P	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	10					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGCCGGCGCCGGGGGCCTCGC	0.721																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(28-30)ccG>ccA		tudor domain containing 6							3.0	5.0	4.0					6																	46655895		1921	3772	5693	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46655895G>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.30G>A	6.37:g.46655895G>A						TDRD6_ENST00000316081.6_Silent_p.P10P|RP11-446F17.3_ENST00000434329.2_RNA	p.P10P	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	284	+			10					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.30G>A	CCDS34470.1																																																																																				0.721	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		3	7	0	0	0	0.004672	0	3	7				
TNFRSF9	3604	broad.mit.edu	37	1	7980912	7980914	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:7980912_7980914delCTT	ENST00000377507.3	-	8	915_917	c.749_751delAAG	c.(748-753)gaagga>gga	p.E250del		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	250	Interaction with LRR-1.		E -> G (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.E250G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCACATCCTCCTTCTTCTTCTTC	0.379																																						ENST00000377507.3																			1	Substitution - Missense(1)	p.E250G(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(748-753)gga>g		tumor necrosis factor receptor superfamily, member 9				58,4208		29,0,2104						6.2	1.0			142	103,8151		49,5,4073	no	coding	TNFRSF9	NM_001561.5		78,5,6177	A1A1,A1R,RR		1.2479,1.3596,1.2859				161,12359				SO:0001651	inframe_deletion	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7980912_7980914delCTT	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.749_751delAAG	1.37:g.7980921_7980923delCTT	ENSP00000366729:p.Glu250del						p.EG250del	NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	8	915_917	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	250		E -> G (in a colorectal cancer sample; somatic mutation).	Interaction with LRR-1.			In_Frame_Del	DEL	ENST00000377507.3	37	c.749_751delAAG	CCDS92.1																																																																																				0.379	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1			7	264						7	264	---	---	---	---
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:36810381delT	ENST00000424886.1	-	0	405									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		GAGTGAGGCCttttttttttt	0.542																																						ENST00000424886.1																			0																																																			0							g.chr3:36810381delT			3p22.3	2010-06-25	2002-08-29	2008-09-22	ENSG00000230067	ENSG00000230067			5267	pseudogene	pseudogene			"""heat shock 60kD protein 1 (chaperonin) pseudogene 6"""	HSPDP6			Standard	NG_008828		Approved	HSPD1-6P			OTTHUMG00000155803		3.37:g.36810381delT														0	405	-									RNA	DEL	ENST00000424886.1	37																																																																																						0.542	HSPD1P6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341724.1	XR_017400		2	4						2	4	---	---	---	---
MUC20	200958	broad.mit.edu	37	3	195447912	195447914	+	In_Frame_Del	DEL	TTC	TTC	-	rs201907823	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:195447912_195447914delTTC	ENST00000447234.2	+	1	160_162	c.34_36delTTC	c.(34-36)ttcdel	p.F14del	MUC20_ENST00000320736.6_In_Frame_Del_p.F14del|MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000436408.1_In_Frame_Del_p.F14del	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	14					activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTGCCCCTTTTCTTCTTCTGCT	0.611														210	0.0419329	0.1104	0.0202	5008	,	,		38073	0.0		0.0149	False		,,,				2504	0.0358					ENST00000320736.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(34-36)del		mucin 20, cell surface associated				386,3300		8,370,1465						1.6	0.2			59	120,7760		1,118,3821	no	coding	MUC20	NM_152673.2		9,488,5286	A1A1,A1R,RR		1.5228,10.4721,4.3749				506,11060				SO:0001651	inframe_deletion	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195447912_195447914delTTC	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.34_36delTTC	3.37:g.195447918_195447920delTTC	ENSP00000414350:p.Phe14del					MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000447234.2_In_Frame_Del_p.F14del|MUC20_ENST00000436408.1_In_Frame_Del_p.F14del	p.F14del	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	1	160_162	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	14					Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	In_Frame_Del	DEL	ENST00000447234.2	37	c.34_36delTTC																																																																																					0.611	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		5	4						5	4	---	---	---	---
AKIP1	56672	broad.mit.edu	37	11	8940912	8940912	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:8940912delT	ENST00000309377.4	+	6	608	c.518delT	c.(517-519)atafs	p.I173fs	AKIP1_ENST00000534147.1_Frame_Shift_Del_p.I173fs|AKIP1_ENST00000299576.5_Frame_Shift_Del_p.I146fs|AKIP1_ENST00000309357.4_Frame_Shift_Del_p.I146fs|AKIP1_ENST00000396648.2_Frame_Shift_Del_p.I146fs	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	173					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(2)	5						GACCTCTACATAGAAGTATAT	0.468																																						ENST00000309377.4																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(517-519)aafs		A kinase (PRKA) interacting protein 1							150.0	147.0	148.0					11																	8940912		2201	4296	6497	SO:0001589	frameshift_variant	56672					nucleus	protein binding	g.chr11:8940912delT	AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"""chromosome 11 open reading frame 17"""	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.518delT	11.37:g.8940912delT	ENSP00000310459:p.Ile173fs					AKIP1_ENST00000309357.4_Frame_Shift_Del_p.I146fs|AKIP1_ENST00000396648.2_Frame_Shift_Del_p.I146fs|AKIP1_ENST00000534147.1_Frame_Shift_Del_p.I173fs|AKIP1_ENST00000299576.5_Frame_Shift_Del_p.I146fs	p.I173fs	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN			6	608	+			173					Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Frame_Shift_Del	DEL	ENST00000309377.4	37	c.518delT	CCDS7793.1																																																																																				0.468	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385615.1	NM_020642		30	118						30	118	---	---	---	---
PHF21A	51317	broad.mit.edu	37	11	46098353	46098356	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:46098353_46098356delTTTC	ENST00000418153.2	-	5	301_304	c.102_105delGAAA	c.(100-105)aagaaafs	p.KK34fs	PHF21A_ENST00000257821.4_Frame_Shift_Del_p.KK34fs|PHF21A_ENST00000323180.6_Frame_Shift_Del_p.KK34fs			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	34	Gln-rich.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CATGAAGCTGTTTCTTTAAGTCAG	0.368																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(100-105)aafs		PHD finger protein 21A																																				SO:0001589	frameshift_variant	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:46098353_46098356delTTTC	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.102_105delGAAA	11.37:g.46098353_46098356delTTTC	ENSP00000398824:p.Lys34fs					PHF21A_ENST00000418153.2_Frame_Shift_Del_p.KK34fs|PHF21A_ENST00000323180.6_Frame_Shift_Del_p.KK34fs	p.KK34fs	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			5	725_728	-			34			Gln-rich.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Frame_Shift_Del	DEL	ENST00000418153.2	37	c.102_105delGAAA	CCDS44578.1																																																																																				0.368	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		10	82						10	82	---	---	---	---
CRYL1	51084	broad.mit.edu	37	13	21013857	21013859	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:21013857_21013859delTCT	ENST00000298248.7	-	4	373_375	c.311_313delAGA	c.(310-315)aagatt>att	p.K104del	CRYL1_ENST00000382812.1_In_Frame_Del_p.K82del|CRYL1_ENST00000480748.1_5'UTR	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	104					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TGAGCAAAAATCTTCTTCTTCAG	0.419																																						ENST00000382812.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(244-249)att>a		crystallin, lambda 1																																				SO:0001651	inframe_deletion	51084				fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity	g.chr13:21013857_21013859delTCT	AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.311_313delAGA	13.37:g.21013863_21013865delTCT	ENSP00000298248:p.Lys104del					CRYL1_ENST00000298248.7_In_Frame_Del_p.KI104del|CRYL1_ENST00000480748.1_5'UTR	p.KI82del			Q9Y2S2	CRYL1_HUMAN		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)	5	473_475	-		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)	104					A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	In_Frame_Del	DEL	ENST00000298248.7	37	c.245_247delAGA	CCDS41871.1																																																																																				0.419	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974		12	67						12	67	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48955530	48955533	+	Frame_Shift_Del	DEL	ATTT	ATTT	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:48955530_48955533delATTT	ENST00000267163.4	+	17	1784_1787	c.1646_1649delATTT	c.(1645-1650)catttafs	p.HL549fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	549	Domain A.|Pocket; binds T and E1A.		H -> Y (in RB). {ECO:0000269|PubMed:8605116}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATGATAAAACATTTAGAACGATGT	0.328		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		23	Whole gene deletion(15)|Unknown(8)	p.0?(15)|p.?(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1645-1650)cafs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48955530_48955533delATTT	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1646_1649delATTT	13.37:g.48955530_48955533delATTT	ENSP00000267163:p.His549fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.HL549fs	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	17	1784_1787	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	549		H -> Y (in RB).	Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.1646_1649delATTT	CCDS31973.1																																																																																				0.328	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			9	36						9	36	---	---	---	---
F8	2157	broad.mit.edu	37	X	154159063	154159063	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:154159063delG	ENST00000360256.4	-	14	3202	c.3002delC	c.(3001-3003)gctfs	p.A1001fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1001	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTCAACAAAGCAGGTCCATG	0.343																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(3001-3003)gtfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						78.0	75.0	76.0					X																	154159063		2203	4299	6502	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154159063delG	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3002delC	X.37:g.154159063delG	ENSP00000353393:p.Ala1001fs						p.A1001fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	3202	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1001			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.3002delC	CCDS35457.1																																																																																				0.343	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			26	135						26	135	---	---	---	---
