#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
SPAM1	6677	broad.mit.edu	37	7	123599958	123599958	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:123599958C>A	ENST00000439500.1	+	6	2078	c.1465C>A	c.(1465-1467)Cta>Ata	p.L489I	SPAM1_ENST00000460182.1_Missense_Mutation_p.L489I|SPAM1_ENST00000402183.2_Missense_Mutation_p.L489I|SPAM1_ENST00000223028.7_Missense_Mutation_p.L489I|SPAM1_ENST00000340011.5_Missense_Mutation_p.L489I	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	489					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCCTCCACACTATCTGCCAC	0.378																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1465-1467)Cta>Ata		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						123.0	115.0	118.0					7																	123599958		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123599958C>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1465C>A	7.37:g.123599958C>A	ENSP00000402123:p.Leu489Ile		Somatic				SPAM1_ENST00000223028.7_Missense_Mutation_p.L489I|SPAM1_ENST00000439500.1_Missense_Mutation_p.L489I|SPAM1_ENST00000402183.2_Missense_Mutation_p.L489I|SPAM1_ENST00000460182.1_Missense_Mutation_p.L489I	p.L489I	NM_003117.4	NP_003108.2	WXS	Illumina GAIIx	Phase_I	P38567	HYALP_HUMAN			5	1822	+			489					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.1465C>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.808874	0.00606	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.16743	2.39;2.39;2.32;2.39;2.39	3.25	-6.5	0.01884	.	31.601800	0.00166	N	0.000000	T	0.06188	0.0160	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.32428	-0.9907	10	0.10636	T	0.68	7.3509	0.3906	0.00409	0.3428:0.2637:0.1808:0.2127	.	489;489	Q8TC30;P38567	.;HYALP_HUMAN	I	489	ENSP00000386028:L489I;ENSP00000417934:L489I;ENSP00000345849:L489I;ENSP00000402123:L489I;ENSP00000223028:L489I	ENSP00000223028:L489I	L	+	1	2	SPAM1	123387194	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.411000	0.02478	-3.895000	0.00094	-2.335000	0.00248	CTA		0.378	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			18	123	1	0	2.94398e-08	1	3.15644e-08	18	123				
TENM1	10178	broad.mit.edu	37	X	123680911	123680911	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrX:123680911A>G	ENST00000371130.3	-	15	2527	c.2464T>C	c.(2464-2466)Tgt>Cgt	p.C822R	TENM1_ENST00000422452.2_Missense_Mutation_p.C822R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	822					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGTTGACAACAGTCAGGATCC	0.383																																						ENST00000422452.2																			0											c.(2464-2466)Tgt>Cgt		teneurin transmembrane protein 1							114.0	96.0	102.0					X																	123680911		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123680911A>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2464T>C	X.37:g.123680911A>G	ENSP00000360171:p.Cys822Arg		Somatic				TENM1_ENST00000371130.3_Missense_Mutation_p.C822R	p.C822R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					15	2527	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.2464T>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506075	0.64410	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.13420	2.59;2.59	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.87578	0.991;0.997;0.998	T	0.50972	-0.8764	10	0.87932	D	0	.	14.3085	0.66400	1.0:0.0:0.0:0.0	.	821;822;822	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	822	ENSP00000360171:C822R;ENSP00000403954:C822R	ENSP00000360171:C822R	C	-	1	0	ODZ1	123508592	1.000000	0.71417	0.972000	0.41901	0.697000	0.40408	8.761000	0.91691	1.955000	0.56771	0.481000	0.45027	TGT		0.383	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		20	95	0	0	0	1	0	20	95				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000355232.3_Splice_Site_p.H157R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C			Somatic				AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice	p.H157_splice			WXS	Illumina GAIIx	Phase_I					5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	5	67	0	0	0	1	0	5	67				
VCAM1	7412	broad.mit.edu	37	1	101186182	101186182	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:101186182C>T	ENST00000294728.2	+	2	316	c.215C>T	c.(214-216)aCg>aTg	p.T72M	VCAM1_ENST00000370115.1_Missense_Mutation_p.T72M|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000347652.2_Missense_Mutation_p.T72M	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	72	Ig-like C2-type 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.T72M(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGGAAGGTGACGAATGAGGGG	0.468																																						ENST00000294728.2																			1	Substitution - Missense(1)	p.T72M(1)	large_intestine(1)	central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(214-216)aCg>aTg		vascular cell adhesion molecule 1	Carvedilol(DB01136)						99.0	85.0	90.0					1																	101186182		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101186182C>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.215C>T	1.37:g.101186182C>T	ENSP00000294728:p.Thr72Met		Somatic				VCAM1_ENST00000370115.1_Missense_Mutation_p.T72M|VCAM1_ENST00000347652.2_Missense_Mutation_p.T72M|VCAM1_ENST00000370119.4_Intron	p.T72M	NM_001078.3	NP_001069.1	WXS	Illumina GAIIx	Phase_I	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	2	316	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	72			Ig-like C2-type 1.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.215C>T	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	7.866	0.727025	0.15439	.	.	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	T;T;T	0.69306	-0.39;-0.39;-0.39	5.82	-11.6	0.00059	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.298560	0.04298	N	0.346771	T	0.22898	0.0553	N	0.22421	0.69	0.09310	N	1	B;P	0.37466	0.276;0.596	B;B	0.42851	0.04;0.4	T	0.47368	-0.9123	9	.	.	.	-0.2294	2.66	0.05024	0.4412:0.2077:0.2127:0.1384	.	72;72	P19320-2;P19320	.;VCAM1_HUMAN	M	72	ENSP00000304611:T72M;ENSP00000294728:T72M;ENSP00000359133:T72M	.	T	+	2	0	VCAM1	100958770	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-2.211000	0.01226	-3.360000	0.00179	-0.768000	0.03414	ACG		0.468	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		4	97	0	0	0	1	0	4	97				
MYH4	4622	broad.mit.edu	37	17	10369732	10369732	+	Splice_Site	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr17:10369732G>C	ENST00000255381.2	-	4	316	c.206C>G	c.(205-207)aCt>aGt	p.T69S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	69					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CACAGTTACAGTCTGTTAAGA	0.403																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.e4-1		myosin, heavy chain 4, skeletal muscle							174.0	160.0	165.0					17																	10369732		2203	4300	6503	SO:0001630	splice_region_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369732G>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.205-1C>G	17.37:g.10369732G>C			Somatic				CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.T69_splice	NM_017533.2	NP_060003.2	WXS	Illumina GAIIx	Phase_I	Q9Y623	MYH4_HUMAN			4	316	-			69			Myosin head-like.			Splice_Site	SNP	ENST00000255381.2	37	c.204_splice	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540920	0.45280	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	D	0.82984	-1.67	4.74	3.74	0.42951	Myosin, N-terminal, SH3-like (1);	0.000000	0.38492	U	0.001676	T	0.79981	0.4540	L	0.60455	1.87	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.77048	-0.2732	10	0.46703	T	0.11	.	14.3744	0.66862	0.0:0.2815:0.7185:0.0	.	69	Q9Y623	MYH4_HUMAN	S	69	ENSP00000255381:T69S	ENSP00000431873:T69S	T	-	2	0	MYH2;MYH4	10310457	1.000000	0.71417	0.893000	0.35052	0.371000	0.29859	4.417000	0.59822	1.300000	0.44818	0.650000	0.86243	ACT		0.403	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Missense_Mutation	20	129	0	0	0	1	0	20	129				
TRADD	8717	broad.mit.edu	37	16	67190518	67190518	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr16:67190518A>G	ENST00000345057.4	-	2	514	c.46T>C	c.(46-48)Tac>Cac	p.Y16H	TRADD_ENST00000486556.1_5'Flank|TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	16					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		ACAAACAGGTATGCGCTGCCC	0.607																																						ENST00000345057.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11						c.(46-48)Tac>Cac		TNFRSF1A-associated via death domain							204.0	156.0	172.0					16																	67190518		2198	4300	6498	SO:0001583	missense	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67190518A>G	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.46T>C	16.37:g.67190518A>G	ENSP00000341268:p.Tyr16His		Somatic				TRADD_ENST00000566104.1_5'UTR	p.Y16H	NM_003789.3	NP_003780.1	WXS	Illumina GAIIx	Phase_I	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	2	514	-		Ovarian(137;0.0563)	16					B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP	ENST00000345057.4	37	c.46T>C	CCDS10829.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418616	0.83559	.	.	ENSG00000102871	ENST00000345057	.	.	.	4.63	4.63	0.57726	TRADD, N-terminal (3);	0.143622	0.48286	D	0.000197	T	0.70753	0.3260	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.992	T	0.73569	-0.3941	9	0.87932	D	0	-16.9486	10.3546	0.43956	1.0:0.0:0.0:0.0	.	16;16	B4DWM0;Q15628	.;TRADD_HUMAN	H	16	.	ENSP00000341268:Y16H	Y	-	1	0	TRADD	65748019	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.826000	0.55738	1.961000	0.56991	0.379000	0.24179	TAC		0.607	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			33	131	0	0	0	1	0	33	131				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713773C>G																													1.37:g.142713773C>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	99	0	0	0	1	0	3	99				
VANGL2	57216	broad.mit.edu	37	1	160394984	160394984	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:160394984C>T	ENST00000368061.2	+	8	1856	c.1382C>T	c.(1381-1383)aCa>aTa	p.T461I		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	461					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACAGTGGACATTGGTGAGC	0.567																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(1381-1383)aCa>aTa		VANGL planar cell polarity protein 2							81.0	74.0	77.0					1																	160394984		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160394984C>T	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1382C>T	1.37:g.160394984C>T	ENSP00000357040:p.Thr461Ile		Somatic					p.T461I	NM_020335.2	NP_065068.1	WXS	Illumina GAIIx	Phase_I	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1856	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		461					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.1382C>T	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352231	0.82132	.	.	ENSG00000162738	ENST00000368061	D	0.81579	-1.51	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85527	0.1207	10	0.41790	T	0.15	-11.9718	15.5184	0.75842	0.0:1.0:0.0:0.0	.	461	Q9ULK5	VANG2_HUMAN	I	461	ENSP00000357040:T461I	ENSP00000357040:T461I	T	+	2	0	VANGL2	158661608	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.602000	0.61098	2.205000	0.71048	0.591000	0.81541	ACA		0.567	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		8	48	0	0	0	1	0	8	48				
BRINP2	57795	broad.mit.edu	37	1	177250282	177250282	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:177250282C>G	ENST00000361539.4	+	8	2282	c.1970C>G	c.(1969-1971)tCc>tGc	p.S657C	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	657					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GATGACAGCTCCAATGAGACA	0.458																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(1969-1971)tCc>tGc									66.0	64.0	64.0					1																	177250282		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177250282C>G		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1970C>G	1.37:g.177250282C>G	ENSP00000354481:p.Ser657Cys		Somatic				FAM5B_ENST00000478325.1_3'UTR	p.S657C	NM_021165.2	NP_066988.1	WXS	Illumina GAIIx	Phase_I	Q9C0B6	FAM5B_HUMAN			8	2282	+			657					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1970C>G	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249602	0.39797	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.15139	2.45	5.16	5.16	0.70880	.	0.202547	0.43260	D	0.000593	T	0.22399	0.0540	N	0.22421	0.69	0.35710	D	0.816302	D;D	0.58620	0.98;0.983	P;B	0.56700	0.804;0.431	T	0.13361	-1.0512	10	0.48119	T	0.1	-23.3435	13.9186	0.63916	0.0:0.8473:0.1527:0.0	.	552;657	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	C	410;657	ENSP00000354481:S657C	ENSP00000354481:S657C	S	+	2	0	FAM5B	175516905	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.185000	0.42584	2.391000	0.81399	0.313000	0.20887	TCC		0.458	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		21	102	0	0	0	1	0	21	102				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			374491							g.chr13:25168432T>C																													13.37:g.25168432T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	40	0	0	0	1	0	3	40				
MEGF8	1954	broad.mit.edu	37	19	42879720	42879720	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:42879720T>C	ENST00000251268.6	+	42	7331	c.7331T>C	c.(7330-7332)cTc>cCc	p.L2444P	MEGF8_ENST00000378073.4_Missense_Mutation_p.L38P|MEGF8_ENST00000334370.4_Missense_Mutation_p.L2377P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2444					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGCTACCGCCTCATCTCGGTG	0.672																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(7129-7131)cTc>cCc		multiple EGF-like-domains 8							26.0	22.0	23.0					19																	42879720		2200	4298	6498	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42879720T>C	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7331T>C	19.37:g.42879720T>C	ENSP00000251268:p.Leu2444Pro		Somatic				MEGF8_ENST00000251268.6_Missense_Mutation_p.L2444P|MEGF8_ENST00000378073.4_Missense_Mutation_p.L38P	p.L2377P	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			41	7765	+		Prostate(69;0.00682)	2444					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.7130T>C		.	.	.	.	.	.	.	.	.	.	t	16.31	3.086205	0.55861	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.21543	2.0;2.0	4.52	4.52	0.55395	.	0.098319	0.46758	D	0.000271	T	0.27098	0.0664	N	0.24115	0.695	0.80722	D	1	D;D;D	0.67145	0.987;0.996;0.994	P;P;P	0.59889	0.6;0.806;0.865	T	0.02581	-1.1138	10	0.42905	T	0.14	-28.2059	13.5139	0.61528	0.0:0.0:0.0:1.0	.	38;2444;2377	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	P	2377;2444;38	ENSP00000334219:L2377P;ENSP00000251268:L2444P	ENSP00000251268:L2444P	L	+	2	0	MEGF8	47571560	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.659000	0.54489	1.984000	0.57885	0.529000	0.55759	CTC		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		2	12	0	0	0	1	0	2	12				
PLEKHM1	9842	broad.mit.edu	37	17	43531340	43531340	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr17:43531340C>G	ENST00000430334.3	-	7	2011	c.1878G>C	c.(1876-1878)aaG>aaC	p.K626N	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.K537N|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	626					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GAGGCCGGACCTTCTGCAGGG	0.672																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1876-1878)aaG>aaC		pleckstrin homology domain containing, family M (with RUN domain) member 1							34.0	35.0	35.0					17																	43531340		2202	4299	6501	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43531340C>G	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1878G>C	17.37:g.43531340C>G	ENSP00000389913:p.Lys626Asn		Somatic				AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.K537N	p.K626N	NM_014798.2	NP_055613.1	WXS	Illumina GAIIx	Phase_I	Q9Y4G2	PKHM1_HUMAN			7	2011	-	Renal(3;0.0405)		626					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.1878G>C	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518194	0.64634	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.30448	1.53;1.53	4.8	3.76	0.43208	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	M	0.68952	2.095	0.46981	D	0.999274	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.989	T	0.46470	-0.9189	10	0.62326	D	0.03	.	8.2197	0.31534	0.0:0.8107:0.0:0.1893	.	537;575;626	F8W648;B4DRX1;Q9Y4G2	.;.;PKHM1_HUMAN	N	626;575;537	ENSP00000389913:K626N;ENSP00000414352:K537N	ENSP00000414352:K537N	K	-	3	2	PLEKHM1	40887123	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.239000	0.32719	2.514000	0.84764	0.586000	0.80456	AAG		0.672	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		3	43	0	0	0	1	0	3	43				
SPON1	10418	broad.mit.edu	37	11	14063144	14063144	+	RNA	SNP	C	C	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:14063144C>A	ENST00000310358.7	+	0	960							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CGGAGGAGGACCCGGATCCAG	0.468																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							128.0	130.0	130.0					11																	14063144		1931	4135	6066			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14063144C>A	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14063144C>A			Somatic								WXS	Illumina GAIIx	Phase_I	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	960	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	ENST00000310358.7	37			.	.	.	.	.	.	.	.	.	.	C	19.38	3.815989	0.70912	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.01	5.01	0.66863	Reeler domain (2);	0.121839	0.53938	D	0.000046	T	0.64472	0.2601	M	0.69248	2.105	0.58432	D	0.999999	B	0.28082	0.2	B	0.32533	0.147	T	0.72371	-0.4314	8	0.62326	D	0.03	.	16.1804	0.81895	0.0:1.0:0.0:0.0	.	141	Q9HCB6	SPON1_HUMAN	N	141	.	ENSP00000309297:T141N	T	+	2	0	SPON1	14019720	0.999000	0.42202	0.977000	0.42913	0.986000	0.74619	4.260000	0.58835	2.476000	0.83614	0.655000	0.94253	ACC		0.468	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		37	122	1	0	4.11147e-13	1	4.50098e-13	37	122				
MYO6	4646	broad.mit.edu	37	6	76599869	76599869	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:76599869G>T	ENST00000369977.3	+	26	2893	c.2754G>T	c.(2752-2754)caG>caT	p.Q918H	MYO6_ENST00000369975.1_Missense_Mutation_p.Q918H|MYO6_ENST00000369985.4_Missense_Mutation_p.Q918H|MYO6_ENST00000369981.3_Missense_Mutation_p.Q918H	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	918					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAAAAAAACAGCAGGAAGAGG	0.408																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2752-2754)caG>caT		myosin VI							85.0	91.0	89.0					6																	76599869		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599869G>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2754G>T	6.37:g.76599869G>T	ENSP00000358994:p.Gln918His		Somatic				MYO6_ENST00000369977.3_Missense_Mutation_p.Q918H|MYO6_ENST00000369985.4_Missense_Mutation_p.Q918H|MYO6_ENST00000369975.1_Missense_Mutation_p.Q918H	p.Q918H			WXS	Illumina GAIIx	Phase_I	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	3033	+		all_hematologic(105;0.189)	918					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.2754G>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546200	0.45383	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.68765	2.15;2.39;2.39;-0.35	5.98	3.91	0.45181	.	0.296487	0.37348	N	0.002133	T	0.50463	0.1617	M	0.61703	1.905	0.48696	D	0.999699	B;P	0.35656	0.226;0.514	B;B	0.37239	0.244;0.244	T	0.60398	-0.7271	10	0.62326	D	0.03	.	9.948	0.41621	0.2764:0.0:0.7236:0.0	.	918;918	Q9UM54-2;Q9UM54-1	.;.	H	918	ENSP00000358998:Q918H;ENSP00000359002:Q918H;ENSP00000358994:Q918H;ENSP00000358992:Q918H	ENSP00000358992:Q918H	Q	+	3	2	MYO6	76656589	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.740000	0.38228	1.552000	0.49463	0.591000	0.81541	CAG		0.408	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		4	116	1	0	0.150653	1	0.152116	4	116				
MYT1L	23040	broad.mit.edu	37	2	1926644	1926644	+	Silent	SNP	G	G	A	rs377285450		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr2:1926644G>A	ENST00000399161.2	-	10	1644	c.897C>T	c.(895-897)taC>taT	p.Y299Y	MYT1L_ENST00000428368.2_Silent_p.Y299Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	299					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCAACATGACGTAATTCATAT	0.463																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(895-897)taC>taT		myelin transcription factor 1-like		G		0,4224		0,0,2112	180.0	183.0	182.0		897	-3.6	0.1	2		182	2,8446		0,2,4222	no	coding-synonymous	MYT1L	NM_015025.2		0,2,6334	AA,AG,GG		0.0237,0.0,0.0158		299/1185	1926644	2,12670	2112	4224	6336	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926644G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.897C>T	2.37:g.1926644G>A			Somatic				MYT1L_ENST00000428368.2_Silent_p.Y299Y	p.Y299Y	NM_015025.2	NP_055840.2	WXS	Illumina GAIIx	Phase_I	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1644	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	299					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.897C>T																																																																																					0.463	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		7	278	0	0	0	1	0	7	278				
OR5P2	120065	broad.mit.edu	37	11	7818172	7818172	+	Silent	SNP	G	G	A	rs140285767		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:7818172G>A	ENST00000329434.2	-	1	348	c.318C>T	c.(316-318)gtC>gtT	p.V106V	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGACGCATTCGACTGTTGCAA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		18179	0.0		0.0	False		,,,				2504	0.001					ENST00000329434.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(316-318)gtC>gtT		olfactory receptor, family 5, subfamily P, member 2		G		0,4208		0,0,2104	96.0	112.0	107.0		318	-1.0	0.0	11	dbSNP_134	107	1,8583		0,1,4291	no	coding-synonymous	OR5P2	NM_153444.1		0,1,6395	AA,AG,GG		0.0116,0.0,0.0078		106/323	7818172	1,12791	2104	4292	6396	SO:0001819	synonymous_variant	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818172G>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.318C>T	11.37:g.7818172G>A			Somatic				RP11-35J10.5_ENST00000527565.1_lincRNA	p.V106V	NM_153444.1	NP_703145.1	WXS	Illumina GAIIx	Phase_I	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	348	-			106					Q3MIS8	Silent	SNP	ENST00000329434.2	37	c.318C>T	CCDS7782.1																																																																																				0.493	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		5	162	0	0	0	1	0	5	162				
PPL	5493	broad.mit.edu	37	16	4935161	4935161	+	Silent	SNP	G	G	A	rs148525665		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr16:4935161G>A	ENST00000345988.2	-	22	3584	c.3495C>T	c.(3493-3495)aaC>aaT	p.N1165N	PPL_ENST00000590782.2_Silent_p.N1163N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1165					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCACTTTGGCGTTCTCCTCCT	0.617																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3493-3495)aaC>aaT		periplakin		G		0,4394		0,0,2197	132.0	120.0	124.0		3495	-9.4	0.2	16	dbSNP_134	124	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PPL	NM_002705.4		0,2,6495	AA,AG,GG		0.0233,0.0,0.0154		1165/1757	4935161	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935161G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3495C>T	16.37:g.4935161G>A			Somatic				PPL_ENST00000590782.2_Silent_p.N1163N	p.N1165N	NM_002705.4	NP_002696.3	WXS	Illumina GAIIx	Phase_I	O60437	PEPL_HUMAN			22	3584	-			1165					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.3495C>T	CCDS10526.1																																																																																				0.617	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		21	130	0	0	0	1	0	21	130				
NOTCH4	4855	broad.mit.edu	37	6	32164148	32164148	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:32164148G>A	ENST00000375023.3	-	29	5389	c.5251C>T	c.(5251-5253)Cgc>Tgc	p.R1751C	NOTCH4_ENST00000443903.2_Intron|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1751					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAAGCGAGCGGGCGGCTCGG	0.627																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5251-5253)Cgc>Tgc		notch 4							116.0	132.0	126.0					6																	32164148		1509	2708	4217	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32164148G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5251C>T	6.37:g.32164148G>A	ENSP00000364163:p.Arg1751Cys		Somatic				NOTCH4_ENST00000443903.2_Intron	p.R1751C	NM_004557.3	NP_004548.3	WXS	Illumina GAIIx	Phase_I	Q99466	NOTC4_HUMAN			29	5389	-			1751					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.5251C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873180	0.72180	.	.	ENSG00000204301	ENST00000375023	T	0.66815	-0.23	4.43	2.46	0.29980	Ankyrin repeat-containing domain (4);	0.178404	0.27315	N	0.019928	T	0.66674	0.2813	M	0.76328	2.33	0.80722	D	1	D;D;D	0.76494	0.963;0.992;0.999	P;P;P	0.60609	0.47;0.86;0.877	T	0.68416	-0.5414	10	0.52906	T	0.07	.	6.8034	0.23764	0.0:0.171:0.477:0.352	.	160;1751;1750	B4DEL8;Q99466;B0S882	.;NOTC4_HUMAN;.	C	1751	ENSP00000364163:R1751C	ENSP00000364163:R1751C	R	-	1	0	NOTCH4	32272126	0.009000	0.17119	1.000000	0.80357	0.985000	0.73830	-0.302000	0.08221	1.193000	0.43086	0.563000	0.77884	CGC		0.627	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			6	201	0	0	0	1	0	6	201				
RABEP1	9135	broad.mit.edu	37	17	5266228	5266228	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr17:5266228C>T	ENST00000546142.2	+	10	1772	c.1585C>T	c.(1585-1587)Ctt>Ttt	p.L529F	RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Missense_Mutation_p.L529F|RABEP1_ENST00000262477.6_Missense_Mutation_p.L529F|RABEP1_ENST00000537505.1_Missense_Mutation_p.L486F|RABEP1_ENST00000341923.6_Missense_Mutation_p.L529F|NUP88_ENST00000573169.1_Intron			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	529					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGGAAATAAACTTGGTAGACG	0.403																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1585-1587)Ctt>Ttt		rabaptin, RAB GTPase binding effector protein 1							127.0	120.0	122.0					17																	5266228		1917	4134	6051	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5266228C>T	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1585C>T	17.37:g.5266228C>T	ENSP00000437701:p.Leu529Phe		Somatic				NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000546142.2_Missense_Mutation_p.L529F|RABEP1_ENST00000341923.6_Missense_Mutation_p.L529F|RABEP1_ENST00000537505.1_Missense_Mutation_p.L486F|RABEP1_ENST00000408982.2_Missense_Mutation_p.L529F	p.L529F	NM_004703.4	NP_004694.2	WXS	Illumina GAIIx	Phase_I	Q15276	RABE1_HUMAN			10	1809	+			529					B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.1585C>T	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579103	0.86645	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.53640	0.62;0.68;0.62;0.68;0.61	5.75	5.75	0.90469	Rabaptin coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.999	T	0.52741	-0.8535	10	0.24483	T	0.36	-6.9722	19.319	0.94229	0.0:1.0:0.0:0.0	.	486;486;522;529;529	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	F	529;529;522;529;529;486	ENSP00000262477:L529F;ENSP00000386150:L529F;ENSP00000437701:L529F;ENSP00000339569:L529F;ENSP00000445408:L486F	ENSP00000262477:L529F	L	+	1	0	RABEP1	5206952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.210000	0.58500	2.894000	0.99253	0.655000	0.94253	CTT		0.403	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		13	53	0	0	0	1	0	13	53				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							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			Somatic						NR_003086.1		WXS	Illumina GAIIx	Phase_I					0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		7	105	0	0	0	1	0	7	105				
DOCK6	57572	broad.mit.edu	37	19	11319498	11319498	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:11319498G>A	ENST00000294618.7	-	39	4963	c.4952C>T	c.(4951-4953)tCa>tTa	p.S1651L	DOCK6_ENST00000319867.7_Missense_Mutation_p.S990L|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1651	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CACGTTGGATGAGATGTTCTG	0.637																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(4951-4953)tCa>tTa		dedicator of cytokinesis 6							65.0	73.0	70.0					19																	11319498		2129	4225	6354	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11319498G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4952C>T	19.37:g.11319498G>A	ENSP00000294618:p.Ser1651Leu		Somatic				DOCK6_ENST00000319867.7_Missense_Mutation_p.S990L|CTC-510F12.2_ENST00000588634.1_RNA	p.S1651L	NM_020812.3	NP_065863.2	WXS	Illumina GAIIx	Phase_I	Q96HP0	DOCK6_HUMAN			39	4963	-			1651			DHR-2.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.4952C>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.634102	0.87660	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.26518	2.47;1.73	4.99	4.99	0.66335	.	0.149991	0.46758	D	0.000263	T	0.61602	0.2360	M	0.92555	3.32	0.80722	D	1	D;P;D	0.76494	0.999;0.936;0.999	D;P;D	0.76575	0.984;0.824;0.988	T	0.72590	-0.4247	10	0.87932	D	0	-10.4944	17.4049	0.87470	0.0:0.0:1.0:0.0	.	990;1651;990	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	L	1651;990	ENSP00000294618:S1651L;ENSP00000321556:S990L	ENSP00000294618:S1651L	S	-	2	0	DOCK6	11180498	1.000000	0.71417	0.948000	0.38648	0.633000	0.38033	9.284000	0.95882	2.490000	0.84030	0.651000	0.88453	TCA		0.637	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		4	58	0	0	0	1	0	4	58				
SPATA16	83893	broad.mit.edu	37	3	172835175	172835175	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:172835175G>A	ENST00000351008.3	-	2	530	c.347C>T	c.(346-348)cCc>cTc	p.P116L		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	116					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.P116H(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GTTCTTTAAGGGGATGTGAGG	0.418																																						ENST00000351008.3																			1	Substitution - Missense(1)	p.P116H(1)	lung(1)	breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(346-348)cCc>cTc		spermatogenesis associated 16							374.0	343.0	353.0					3																	172835175		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835175G>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.347C>T	3.37:g.172835175G>A	ENSP00000341765:p.Pro116Leu		Somatic					p.P116L	NM_031955.5	NP_114161.3	WXS	Illumina GAIIx	Phase_I	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	530	-	Ovarian(172;0.00319)|Breast(254;0.197)		116					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.347C>T	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087280	0.76642	.	.	ENSG00000144962	ENST00000351008	T	0.28069	1.63	5.67	5.67	0.87782	.	0.000000	0.56097	D	0.000026	T	0.41949	0.1181	L	0.29908	0.895	0.53005	D	0.999968	D	0.63046	0.992	P	0.59357	0.856	T	0.28650	-1.0037	10	0.87932	D	0	-8.2831	17.5336	0.87820	0.0:0.0:1.0:0.0	.	116	Q9BXB7	SPT16_HUMAN	L	116	ENSP00000341765:P116L	ENSP00000341765:P116L	P	-	2	0	SPATA16	174317869	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.002000	0.57053	2.664000	0.90586	0.555000	0.69702	CCC		0.418	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		13	236	0	0	0	1	0	13	236				
WRN	7486	broad.mit.edu	37	8	30948045	30948045	+	Missense_Mutation	SNP	A	A	G	rs150148567	byFrequency	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr8:30948045A>G	ENST00000298139.5	+	14	1966	c.1717A>G	c.(1717-1719)Act>Gct	p.T573A		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	573	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGTCATGGCAACTGGTAAGTT	0.294			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				A|||	2	0.000399361	0.0	0.0	5008	,	,		14974	0.0		0.002	False		,,,				2504	0.0				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1717-1719)Act>Gct	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like		A	ALA/THR	3,4403	6.2+/-15.9	0,3,2200	66.0	72.0	70.0		1717	5.6	1.0	8	dbSNP_134	70	24,8550	17.9+/-57.8	0,24,4263	yes	missense	WRN	NM_000553.4	58	0,27,6463	GG,GA,AA		0.2799,0.0681,0.208	probably-damaging	573/1433	30948045	27,12953	2203	4287	6490	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30948045A>G		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1717A>G	8.37:g.30948045A>G	ENSP00000298139:p.Thr573Ala		Somatic					p.T573A	NM_000553.4	NP_000544.2	WXS	Illumina GAIIx	Phase_I	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	14	1966	+		Breast(100;0.195)	573			Helicase ATP-binding.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.1717A>G	CCDS6082.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	A	23.4	4.415598	0.83449	6.81E-4	0.002799	ENSG00000165392	ENST00000298139	T	0.34859	1.34	5.62	5.62	0.85841	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82246	-0.0552	10	0.87932	D	0	-24.994	15.4842	0.75551	1.0:0.0:0.0:0.0	.	573	Q14191	WRN_HUMAN	A	573	ENSP00000298139:T573A	ENSP00000298139:T573A	T	+	1	0	WRN	31067587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.239000	0.78182	2.146000	0.66826	0.528000	0.53228	ACT		0.294	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			4	214	0	0	0	1	0	4	214				
MGAT5	4249	broad.mit.edu	37	2	135076308	135076308	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr2:135076308G>C	ENST00000409645.1	+	5	823	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	MGAT5_ENST00000281923.2_Missense_Mutation_p.E191Q			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	191					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTACCTCAGTGAGGTGAGTAG	0.453																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(571-573)Gag>Cag		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							133.0	128.0	130.0					2																	135076308		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135076308G>C	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.571G>C	2.37:g.135076308G>C	ENSP00000386377:p.Glu191Gln		Somatic				MGAT5_ENST00000281923.2_Missense_Mutation_p.E191Q	p.E191Q			WXS	Illumina GAIIx	Phase_I	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	5	823	+			191					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.571G>C	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744522	0.69418	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.54	5.54	0.83059	.	0.049932	0.85682	D	0.000000	T	0.74359	0.3706	L	0.48642	1.525	0.80722	D	1	D	0.61080	0.989	D	0.72982	0.979	T	0.74899	-0.3507	9	0.56958	D	0.05	-29.0599	17.6539	0.88172	0.0:0.0:1.0:0.0	.	191	Q09328	MGT5A_HUMAN	Q	191	.	ENSP00000281923:E191Q	E	+	1	0	MGAT5	134792778	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.444000	0.97578	2.609000	0.88269	0.655000	0.94253	GAG		0.453	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		4	163	0	0	0	1	0	4	163				
CPXM2	119587	broad.mit.edu	37	10	125516758	125516758	+	Missense_Mutation	SNP	G	G	A	rs368753397		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:125516758G>A	ENST00000241305.3	-	12	2042	c.1888C>T	c.(1888-1890)Cgg>Tgg	p.R630W	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	630					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGAGATTCCCGGTTATTCTCC	0.537																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1888-1890)Cgg>Tgg		carboxypeptidase X (M14 family), member 2		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	160.0	129.0	139.0		1888	4.7	1.0	10		139	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPXM2	NM_198148.2	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	630/757	125516758	2,13004	2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125516758G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1888C>T	10.37:g.125516758G>A	ENSP00000241305:p.Arg630Trp		Somatic				CPXM2_ENST00000368854.3_5'UTR	p.R630W	NM_198148.2	NP_937791.2	WXS	Illumina GAIIx	Phase_I	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	12	2042	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	630					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1888C>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072794	0.93950	2.27E-4	1.16E-4	ENSG00000121898	ENST00000368854;ENST00000241305;ENST00000540123;ENST00000418782	T	0.10288	2.89	4.71	4.71	0.59529	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.43344	0.1243	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57027	-0.7881	10	0.87932	D	0	-15.7377	17.8735	0.88818	0.0:0.0:1.0:0.0	.	630	Q8N436	CPXM2_HUMAN	W	126;630;463;605	ENSP00000241305:R630W	ENSP00000241305:R630W	R	-	1	2	CPXM2	125506748	1.000000	0.71417	0.981000	0.43875	0.880000	0.50808	6.374000	0.73132	2.432000	0.82394	0.650000	0.86243	CGG		0.537	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		34	106	0	0	0	1	0	34	106				
BCOR	54880	broad.mit.edu	37	X	39922969	39922969	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrX:39922969G>T	ENST00000378444.4	-	8	3967	c.3739C>A	c.(3739-3741)Cct>Act	p.P1247T	BCOR_ENST00000378463.1_Missense_Mutation_p.P90T|BCOR_ENST00000397354.3_Missense_Mutation_p.P1213T|BCOR_ENST00000378455.4_Missense_Mutation_p.P1195T|BCOR_ENST00000342274.4_Missense_Mutation_p.P1213T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1247					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTCCCCTGAGGAATGGCCTCA	0.557			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3637-3639)Cct>Act		BCL6 corepressor							179.0	144.0	156.0					X																	39922969		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922969G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3739C>A	X.37:g.39922969G>T	ENSP00000367705:p.Pro1247Thr		Somatic				BCOR_ENST00000378444.4_Missense_Mutation_p.P1247T|BCOR_ENST00000397354.3_Missense_Mutation_p.P1213T|BCOR_ENST00000378455.4_Missense_Mutation_p.P1195T|BCOR_ENST00000378463.1_Missense_Mutation_p.P90T	p.P1213T	NM_001123383.1	NP_001116855.1	WXS	Illumina GAIIx	Phase_I	Q6W2J9	BCOR_HUMAN			8	3999	-			1247					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3637C>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	1.145	-0.648399	0.03506	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T	0.67171	-0.25;1.13;1.21;1.18;1.21;1.18	5.52	-1.26	0.09376	.	.	.	.	.	T	0.38427	0.1040	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.14254	-1.0479	9	0.51188	T	0.08	-2.2912	1.5453	0.02563	0.1272:0.385:0.2469:0.241	.	1195;1247;1213	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	T	117;90;1195;1213;1247;1213;1213	ENSP00000408006:P117T;ENSP00000367724:P90T;ENSP00000367716:P1195T;ENSP00000380512:P1213T;ENSP00000367705:P1247T;ENSP00000345923:P1213T	ENSP00000345923:P1213T	P	-	1	0	BCOR	39807913	0.267000	0.24122	0.002000	0.10522	0.093000	0.18481	0.258000	0.18387	-0.858000	0.04110	-0.436000	0.05848	CCT		0.557	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		7	259	1	0	0.0381472	1	0.0392803	7	259				
MTUS2	23281	broad.mit.edu	37	13	29599533	29599533	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr13:29599533A>G	ENST00000431530.3	+	1	786	c.728A>G	c.(727-729)gAc>gGc	p.D243G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	233						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTGCAACTGACAGTACCTCA	0.582																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(727-729)gAc>gGc		microtubule associated tumor suppressor candidate 2							40.0	40.0	40.0					13																	29599533		2201	4299	6500	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599533A>G	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.728A>G	13.37:g.29599533A>G	ENSP00000392057:p.Asp243Gly		Somatic					p.D243G	NM_001033602.2	NP_001028774.2	WXS	Illumina GAIIx	Phase_I	Q5JR59	MTUS2_HUMAN			1	786	+			233					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.728A>G	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	a	12.33	1.906025	0.33628	.	.	ENSG00000132938	ENST00000431530	T	0.19105	2.17	5.49	2.85	0.33270	.	0.635768	0.14286	N	0.329195	T	0.20414	0.0491	L	0.54323	1.7	0.09310	N	0.999993	P	0.42296	0.775	B	0.43916	0.436	T	0.13282	-1.0515	9	.	.	.	.	2.8847	0.05658	0.6259:0.1516:0.0773:0.1451	.	233	Q5JR59	MTUS2_HUMAN	G	243	ENSP00000392057:D243G	.	D	+	2	0	MTUS2	28497533	0.032000	0.19561	0.054000	0.19295	0.019000	0.09904	1.198000	0.32223	0.878000	0.35920	0.459000	0.35465	GAC		0.582	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		3	33	0	0	0	1	0	3	33				
KIAA1549L	25758	broad.mit.edu	37	11	33596381	33596381	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:33596381C>T	ENST00000321505.4	+	9	3653	c.3473C>T	c.(3472-3474)gCc>gTc	p.A1158V	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A1164V|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1164V			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1158						integral component of membrane (GO:0016021)											CAAAGGATGGCCTTGACCCTT	0.468																																						ENST00000321505.4																			0											c.(3472-3474)gCc>gTc		KIAA1549-like							149.0	147.0	147.0					11																	33596381		2033	4193	6226	SO:0001583	missense	25758							g.chr11:33596381C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3473C>T	11.37:g.33596381C>T	ENSP00000315295:p.Ala1158Val		Somatic				KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A1164V|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1164V	p.A1158V			WXS	Illumina GAIIx	Phase_I					9	3653	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3473C>T	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.439346|5.439346	0.96168|0.96168	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568|ENST00000526400	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82618|0.82618	0.5076|0.5076	M|M	0.83012|0.83012	2.62|2.62	0.51482|0.51482	D|D	0.999926|0.999926	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.83162|0.83162	-0.0098|-0.0098	9|5	0.87932|.	D|.	0|.	-23.0648|-23.0648	19.6091|19.6091	0.95594|0.95594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1164;1164|.	E9PAT2;Q6ZVL6-2|.	.;.|.	V|S	1158;1164;1164;997|556	.|.	ENSP00000265654:A1164V|.	A|P	+|+	2|1	0|0	C11orf41|C11orf41	33552957|33552957	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.476000|7.476000	0.81055|0.81055	2.650000|2.650000	0.89964|0.89964	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.468	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		5	154	0	0	0	1	0	5	154				
ANKRD46	157567	broad.mit.edu	37	8	101541853	101541853	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr8:101541853T>G	ENST00000520552.1	-	3	370	c.209A>C	c.(208-210)gAt>gCt	p.D70A	ANKRD46_ENST00000335659.3_Missense_Mutation_p.D70A|ANKRD46_ENST00000519597.1_Missense_Mutation_p.D70A|ANKRD46_ENST00000520311.1_Missense_Mutation_p.D70A|ANKRD46_ENST00000519316.1_Missense_Mutation_p.D70A	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	70						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			GGCCAGAAGATCGGCACCGAA	0.463																																						ENST00000520311.1																			0				kidney(1)|large_intestine(2)|lung(4)	7						c.(208-210)gAt>gCt		ankyrin repeat domain 46							132.0	119.0	124.0					8																	101541853		2203	4300	6503	SO:0001583	missense	157567					integral to membrane		g.chr8:101541853T>G	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.209A>C	8.37:g.101541853T>G	ENSP00000429015:p.Asp70Ala		Somatic				ANKRD46_ENST00000519597.1_Missense_Mutation_p.D70A|ANKRD46_ENST00000519316.1_Missense_Mutation_p.D70A|ANKRD46_ENST00000335659.3_Missense_Mutation_p.D70A|ANKRD46_ENST00000520552.1_Missense_Mutation_p.D70A	p.D70A	NM_001270378.1	NP_001257307.1	WXS	Illumina GAIIx	Phase_I	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		3	1012	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		70					Q6P9B7	Missense_Mutation	SNP	ENST00000520552.1	37	c.209A>C	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762311	0.89932	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	T;T;T;T;T;T;T;T;T	0.42900	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.96;0.96	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.78456	2.415	0.80722	D	1	D;D	0.69078	0.988;0.997	D;D	0.81914	0.932;0.995	T	0.69198	-0.5208	10	0.56958	D	0.05	-29.6304	16.1138	0.81283	0.0:0.0:0.0:1.0	.	70;70	Q86W74-2;Q86W74	.;ANR46_HUMAN	A	70	ENSP00000429015:D70A;ENSP00000335287:D70A;ENSP00000430056:D70A;ENSP00000428388:D70A;ENSP00000430827:D70A;ENSP00000351881:D70A;ENSP00000430357:D70A;ENSP00000430800:D70A;ENSP00000429647:D70A	ENSP00000335287:D70A	D	-	2	0	ANKRD46	101611029	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.570000	0.82390	2.220000	0.72140	0.533000	0.62120	GAT		0.463	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401		5	94	0	0	0	1	0	5	94				
KRT71	112802	broad.mit.edu	37	12	52939363	52939363	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:52939363G>A	ENST00000267119.5	-	8	1415	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	449	Tail.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCTGACAGGGGAGGGAAATTC	0.433																																						ENST00000267119.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1345-1347)tCc>tTc		keratin 71							61.0	60.0	60.0					12																	52939363		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52939363G>A	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.1346C>T	12.37:g.52939363G>A	ENSP00000267119:p.Ser449Phe		Somatic					p.S449F	NM_033448.2	NP_258259.1	WXS	Illumina GAIIx	Phase_I	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	8	1415	-			449			Tail.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.1346C>T	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308086	0.60305	.	.	ENSG00000139648	ENST00000267119	D	0.83075	-1.68	4.93	4.02	0.46733	.	0.000000	0.43416	D	0.000578	D	0.84270	0.5435	L	0.49126	1.545	0.28512	N	0.913498	P	0.49961	0.93	P	0.53313	0.723	T	0.80211	-0.1476	10	0.87932	D	0	.	12.1688	0.54146	0.0:0.0:0.6915:0.3085	.	449	Q3SY84	K2C71_HUMAN	F	449	ENSP00000267119:S449F	ENSP00000267119:S449F	S	-	2	0	KRT71	51225630	0.000000	0.05858	0.986000	0.45419	0.996000	0.88848	0.197000	0.17197	1.367000	0.46095	0.655000	0.94253	TCC		0.433	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		4	102	0	0	0	1	0	4	102				
KCND2	3751	broad.mit.edu	37	7	119914985	119914985	+	Missense_Mutation	SNP	G	G	A	rs377746178		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:119914985G>A	ENST00000331113.4	+	1	1264	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	100					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AATTTCTACCGCACTGGGAAG	0.522																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(298-300)cGc>cAc		potassium voltage-gated channel, Shal-related subfamily, member 2							142.0	143.0	142.0					7																	119914985		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914985G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.299G>A	7.37:g.119914985G>A	ENSP00000333496:p.Arg100His		Somatic					p.R100H	NM_012281.2	NP_036413.1	WXS	Illumina GAIIx	Phase_I	Q9NZV8	KCND2_HUMAN			1	1264	+	all_neural(327;0.117)		100					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.299G>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840334	0.91117	.	.	ENSG00000184408	ENST00000331113	T	0.55760	0.5	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86200	0.1618	9	.	.	.	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	100	Q9NZV8	KCND2_HUMAN	H	100	ENSP00000333496:R100H	.	R	+	2	0	KCND2	119702221	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.062000	0.89475	2.709000	0.92574	0.655000	0.94253	CGC		0.522	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		26	300	0	0	0	1	0	26	300				
RBM28	55131	broad.mit.edu	37	7	127963594	127963594	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:127963594C>T	ENST00000223073.2	-	13	1504	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	RBM28_ENST00000481788.1_5'Flank|RBM28_ENST00000415472.2_Missense_Mutation_p.A323T	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	464					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCTCTTTTGGCCATATCAGCA	0.458																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1390-1392)Gcc>Acc		RNA binding motif protein 28							242.0	217.0	225.0					7																	127963594		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127963594C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1390G>A	7.37:g.127963594C>T	ENSP00000223073:p.Ala464Thr		Somatic				RBM28_ENST00000415472.2_Missense_Mutation_p.A323T	p.A464T	NM_018077.2	NP_060547.2	WXS	Illumina GAIIx	Phase_I	Q9NW13	RBM28_HUMAN			13	1504	-			464					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1390G>A	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853987	0.51270	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.20881	2.98;2.04	6.08	6.08	0.98989	.	0.153182	0.56097	D	0.000022	T	0.22322	0.0538	L	0.52905	1.665	0.58432	D	0.999999	B;B;B	0.28512	0.024;0.214;0.024	B;B;B	0.20767	0.025;0.031;0.016	T	0.03060	-1.1077	10	0.18710	T	0.47	-12.2632	18.1573	0.89696	0.0:1.0:0.0:0.0	.	323;464;323	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	T	464;323	ENSP00000223073:A464T;ENSP00000390517:A323T	ENSP00000223073:A464T	A	-	1	0	RBM28	127750830	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.764000	0.55264	2.894000	0.99253	0.655000	0.94253	GCC		0.458	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		5	218	0	0	0	1	0	5	218				
ZC3H10	84872	broad.mit.edu	37	12	56515094	56515094	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:56515094C>T	ENST00000257940.2	+	3	1024	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	250							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GCTCAGGAAGCGGGTAGAGGA	0.517																																						ENST00000257940.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11						c.(748-750)Cgg>Tgg		zinc finger CCCH-type containing 10							72.0	73.0	72.0					12																	56515094		2203	4300	6503	SO:0001583	missense	84872						nucleic acid binding|zinc ion binding	g.chr12:56515094C>T	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.748C>T	12.37:g.56515094C>T	ENSP00000257940:p.Arg250Trp		Somatic				RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	p.R250W	NM_032786.1	NP_116175.1	WXS	Illumina GAIIx	Phase_I	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	1024	+			250						Missense_Mutation	SNP	ENST00000257940.2	37	c.748C>T	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160493	0.57368	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000001	T	0.64294	0.2585	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.69176	-0.5214	9	0.87932	D	0	-9.1509	17.7325	0.88382	0.0:1.0:0.0:0.0	.	250	Q96K80	ZC3HA_HUMAN	W	250	.	ENSP00000257940:R250W	R	+	1	2	ZC3H10	54801361	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.081000	0.64444	2.561000	0.86390	0.655000	0.94253	CGG		0.517	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		4	108	0	0	0	1	0	4	108				
TTN	7273	broad.mit.edu	37	2	179552876	179552876	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr2:179552876C>G	ENST00000591111.1	-	125	31546	c.31322G>C	c.(31321-31323)aGa>aCa	p.R10441T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R10758T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9514T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCTCCTCTCTTTCTTCTTC	0.378																																						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.(32272-32274)aGa>aCa		titin							161.0	164.0	163.0					2																	179552876		1872	4093	5965	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179552876C>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.31322G>C	2.37:g.179552876C>G	ENSP00000465570:p.Arg10441Thr		Somatic				TTN_ENST00000342992.6_Missense_Mutation_p.R9514T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R10441T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron	p.R10758T	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		127	32497	-			10441			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.32273G>C		.	.	.	.	.	.	.	.	.	.	C	13.31	2.198670	0.38806	.	.	ENSG00000155657	ENST00000342992	T	0.62639	0.01	4.42	4.42	0.53409	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.47930	0.1472	L	0.29908	0.895	0.80722	D	1	B	0.31100	0.308	B	0.20955	0.032	T	0.54642	-0.8263	9	0.87932	D	0	.	12.6962	0.57005	0.0:1.0:0.0:0.0	.	10441	Q8WZ42	TITIN_HUMAN	T	9514	ENSP00000343764:R9514T	ENSP00000343764:R9514T	R	-	2	0	TTN	179261121	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.995000	0.29706	2.460000	0.83146	0.467000	0.42956	AGA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	244	0	0	0	1	0	6	244				
FRY	10129	broad.mit.edu	37	13	32813993	32813993	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr13:32813993T>C	ENST00000380250.3	+	46	7158	c.6662T>C	c.(6661-6663)tTg>tCg	p.L2221S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2221						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GACATTACCTTGAATATGGTT	0.443																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(6661-6663)tTg>tCg		furry homolog (Drosophila)							87.0	87.0	87.0					13																	32813993		1968	4154	6122	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32813993T>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6662T>C	13.37:g.32813993T>C	ENSP00000369600:p.Leu2221Ser		Somatic					p.L2221S	NM_023037.2	NP_075463.2	WXS	Illumina GAIIx	Phase_I	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	46	7158	+		Lung SC(185;0.0271)	2221					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.6662T>C	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.734004	0.89482	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.26518	1.73	6.07	6.07	0.98685	.	0.066932	0.64402	D	0.000012	T	0.42359	0.1199	L	0.54323	1.7	0.80722	D	1	P	0.37781	0.608	P	0.52710	0.707	T	0.06917	-1.0800	10	0.27785	T	0.31	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	2221	Q5TBA9	FRY_HUMAN	S	2221;1058	ENSP00000369600:L2221S	ENSP00000369600:L2221S	L	+	2	0	FRY	31711993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.980000	0.88113	2.326000	0.78906	0.533000	0.62120	TTG		0.443	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		19	56	0	0	0	1	0	19	56				
ABCF1	23	broad.mit.edu	37	6	30554452	30554452	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:30554452T>A	ENST00000326195.8	+	20	2107	c.1995T>A	c.(1993-1995)agT>agA	p.S665R	ABCF1_ENST00000376545.3_Missense_Mutation_p.S627R|ABCF1_ENST00000396515.4_Intron|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	665	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGGGGAAGAGTACGCTACTCC	0.547																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(1993-1995)agT>agA		ATP-binding cassette, sub-family F (GCN20), member 1							166.0	125.0	140.0					6																	30554452		1511	2709	4220	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30554452T>A	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1995T>A	6.37:g.30554452T>A	ENSP00000313603:p.Ser665Arg		Somatic				ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S627R	p.S665R	NM_001025091.1	NP_001020262.1	WXS	Illumina GAIIx	Phase_I	Q8NE71	ABCF1_HUMAN			20	2107	+			665			ABC transporter 2.		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.1995T>A	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.886580	0.51908	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	D;D	0.97870	-4.58;-4.58	5.63	2.47	0.30058	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97734	1.0204	10	0.87932	D	0	-20.5139	5.5363	0.17013	0.0:0.4653:0.0:0.5347	.	627;665	Q2L6I2;Q8NE71	.;ABCF1_HUMAN	R	665;627	ENSP00000313603:S665R;ENSP00000365728:S627R	ENSP00000313603:S665R	S	+	3	2	ABCF1	30662431	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	0.562000	0.23531	0.720000	0.32209	-0.375000	0.07067	AGT		0.547	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			4	105	0	0	0	1	0	4	105				
NKAIN2	154215	broad.mit.edu	37	6	124979412	124979412	+	Silent	SNP	G	G	A	rs142736368	byFrequency	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:124979412G>A	ENST00000368417.1	+	4	414	c.354G>A	c.(352-354)acG>acA	p.T118T	NKAIN2_ENST00000368416.1_Silent_p.T118T|NKAIN2_ENST00000545433.1_Silent_p.T103T|NKAIN2_ENST00000546092.1_Intron	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GTACGGTGACGTCAGTGACAC	0.488													G|||	3	0.000599042	0.0015	0.0	5008	,	,		17532	0.0		0.0	False		,,,				2504	0.001					ENST00000368417.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19						c.(352-354)acG>acA		Na+/K+ transporting ATPase interacting 2		G	,	7,4399	12.9+/-30.5	0,7,2196	164.0	139.0	147.0		354,	-6.1	1.0	6	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous,intron	NKAIN2	NM_001040214.1,NM_153355.3	,	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	,	118/209,	124979412	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	154215					integral to membrane|plasma membrane		g.chr6:124979412G>A	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.354G>A	6.37:g.124979412G>A			Somatic				NKAIN2_ENST00000368416.1_Silent_p.T118T|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Silent_p.T103T	p.T118T	NM_001040214.1	NP_001035304.1	WXS	Illumina GAIIx	Phase_I	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	4	414	+			118					Q8IYR4|Q8TF67	Silent	SNP	ENST00000368417.1	37	c.354G>A	CCDS34526.1																																																																																				0.488	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		4	101	0	0	0	1	0	4	101				
TLE1	7088	broad.mit.edu	37	9	84267197	84267197	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr9:84267197G>C	ENST00000376499.3	-	6	1368	c.304C>G	c.(304-306)Caa>Gaa	p.Q102E	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376463.1_Missense_Mutation_p.Q46E	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	102	Gln-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCACCTGTTGTTGATGCTTT	0.463																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(304-306)Caa>Gaa		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							170.0	146.0	154.0					9																	84267197		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84267197G>C		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.304C>G	9.37:g.84267197G>C	ENSP00000365682:p.Gln102Glu		Somatic				TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376463.1_Missense_Mutation_p.Q46E	p.Q102E	NM_005077.3	NP_005068.2	WXS	Illumina GAIIx	Phase_I	Q04724	TLE1_HUMAN			6	1368	-			102			Gln-rich.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.304C>G	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924502	0.73213	.	.	ENSG00000196781	ENST00000376499;ENST00000355002;ENST00000418319;ENST00000376463	T;T;T	0.54279	0.58;1.12;0.65	5.73	5.73	0.89815	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	M	0.93763	3.455	0.80722	D	1	D;B;D;B;P;B	0.62365	0.963;0.24;0.991;0.278;0.74;0.131	D;B;D;B;P;B	0.68621	0.959;0.282;0.959;0.35;0.651;0.375	D	0.85061	0.0934	10	0.87932	D	0	-13.4445	19.9017	0.96988	0.0:0.0:1.0:0.0	.	102;102;102;129;102;102	B4E345;B4DEF9;A6NFH2;Q59EF7;Q5T3G3;Q04724	.;.;.;.;.;TLE1_HUMAN	E	102;102;102;46	ENSP00000365682:Q102E;ENSP00000391347:Q102E;ENSP00000365646:Q46E	ENSP00000347102:Q102E	Q	-	1	0	TLE1	83457017	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.707000	0.92482	0.561000	0.74099	CAA		0.463	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		3	135	0	0	0	1	0	3	135				
ZNF45	7596	broad.mit.edu	37	19	44418057	44418057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:44418057G>A	ENST00000269973.5	-	10	2621	c.1531C>T	c.(1531-1533)Cag>Tag	p.Q511*	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Nonsense_Mutation_p.Q511*	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	511					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTGGAGAACTGACTGAAGGCC	0.493																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1531-1533)Cag>Tag		zinc finger protein 45							69.0	62.0	64.0					19																	44418057		2203	4300	6503	SO:0001587	stop_gained	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44418057G>A	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1531C>T	19.37:g.44418057G>A	ENSP00000269973:p.Gln511*		Somatic				RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Nonsense_Mutation_p.Q511*	p.Q511*	NM_003425.3	NP_003416.1	WXS	Illumina GAIIx	Phase_I	Q02386	ZNF45_HUMAN			10	2621	-			511					P17016|P78472|Q9P1U9	Nonsense_Mutation	SNP	ENST00000269973.5	37	c.1531C>T	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	G	46	12.330246	0.99658	.	.	ENSG00000124459	ENST00000269973	.	.	.	3.61	3.61	0.41365	.	0.000000	0.34603	N	0.003836	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-17.4471	14.5273	0.67897	0.0:0.0:1.0:0.0	.	.	.	.	X	511	.	ENSP00000269973:Q511X	Q	-	1	0	ZNF45	49109897	0.000000	0.05858	0.991000	0.47740	0.883000	0.51084	-0.612000	0.05616	2.026000	0.59711	0.455000	0.32223	CAG		0.493	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		4	65	0	0	0	1	0	4	65				
PJA1	64219	broad.mit.edu	37	X	68382878	68382878	+	Silent	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrX:68382878G>A	ENST00000361478.1	-	2	581	c.204C>T	c.(202-204)agC>agT	p.S68S	PJA1_ENST00000374571.4_Silent_p.S13S|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374583.1_Silent_p.S68S|PJA1_ENST00000374584.3_Silent_p.S68S	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	68					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATGGCGATCGGCTCCTCTTGG	0.542																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(202-204)agC>agT		praja ring finger 1, E3 ubiquitin protein ligase							165.0	146.0	152.0					X																	68382878		2203	4300	6503	SO:0001819	synonymous_variant	64219						zinc ion binding	g.chrX:68382878G>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.204C>T	X.37:g.68382878G>A			Somatic				PJA1_ENST00000374583.1_Silent_p.S68S|PJA1_ENST00000374584.3_Silent_p.S68S|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Silent_p.S13S	p.S68S	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	WXS	Illumina GAIIx	Phase_I	Q8NG27	PJA1_HUMAN			2	581	-			68					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	ENST00000361478.1	37	c.204C>T	CCDS14393.1																																																																																				0.542	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		5	197	0	0	0	1	0	5	197				
EEF1A2	1917	broad.mit.edu	37	20	62128979	62128979	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr20:62128979C>T	ENST00000298049.7	-	1	208	c.138G>A	c.(136-138)gcG>gcA	p.A46A	EEF1A2_ENST00000217182.3_Silent_p.A46A			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	46	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCACCTCAGCCGCCTCCTTCT	0.612																																						ENST00000217182.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(136-138)gcG>gcA		eukaryotic translation elongation factor 1 alpha 2							128.0	126.0	127.0					20																	62128979		2203	4300	6503	SO:0001819	synonymous_variant	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62128979C>T	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.138G>A	20.37:g.62128979C>T			Somatic				EEF1A2_ENST00000298049.7_Silent_p.A46A	p.A46A	NM_001958.3	NP_001949.1	WXS	Illumina GAIIx	Phase_I	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		2	303	-	all_cancers(38;9.45e-12)		46					B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	c.138G>A	CCDS13522.1																																																																																				0.612	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		34	128	0	0	0	1	0	34	128				
SPTA1	6708	broad.mit.edu	37	1	158614129	158614129	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:158614129G>T	ENST00000368147.4	-	30	4432	c.4252C>A	c.(4252-4254)Ctg>Atg	p.L1418M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1418					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGACCTCAGGGAATTCTCA	0.463																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4252-4254)Ctg>Atg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							109.0	106.0	107.0					1																	158614129		1949	4148	6097	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158614129G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4252C>A	1.37:g.158614129G>T	ENSP00000357129:p.Leu1418Met		Somatic				SPTA1_ENST00000368147.3_Missense_Mutation_p.L1418M	p.L1418M	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			30	4432	-	all_hematologic(112;0.0378)		1418					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4252C>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269749	0.59540	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61742	0.08;0.08	5.03	4.12	0.48240	.	0.000000	0.26535	N	0.023825	T	0.72179	0.3428	M	0.90814	3.15	0.43536	D	0.995822	D	0.89917	1.0	D	0.79784	0.993	T	0.77872	-0.2426	10	0.72032	D	0.01	.	10.059	0.42263	0.1649:0.0:0.8351:0.0	.	1418	P02549	SPTA1_HUMAN	M	1418	ENSP00000357130:L1418M;ENSP00000357129:L1418M	ENSP00000357129:L1418M	L	-	1	2	SPTA1	156880753	1.000000	0.71417	0.911000	0.35937	0.900000	0.52787	3.439000	0.52878	1.486000	0.48398	0.591000	0.81541	CTG		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		8	139	1	0	0.0477658	1	0.0487023	8	139				
HORMAD2	150280	broad.mit.edu	37	22	30517740	30517740	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr22:30517740A>C	ENST00000336726.6	+	9	885	c.530A>C	c.(529-531)aAt>aCt	p.N177T	HORMAD2_ENST00000403975.1_Missense_Mutation_p.N177T	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	177	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			CTTCCTAATAATGTTGTACTT	0.348																																						ENST00000336726.6																			0				large_intestine(1)|lung(1)	2						c.(529-531)aAt>aCt		HORMA domain containing 2							92.0	81.0	85.0					22																	30517740		1857	4094	5951	SO:0001583	missense	150280				meiosis|mitosis	chromosome|nucleus		g.chr22:30517740A>C	AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.530A>C	22.37:g.30517740A>C	ENSP00000336984:p.Asn177Thr		Somatic				HORMAD2_ENST00000403975.1_Missense_Mutation_p.N177T	p.N177T	NM_152510.2	NP_689723.1	WXS	Illumina GAIIx	Phase_I	Q8N7B1	HORM2_HUMAN	Epithelial(10;0.125)		9	885	+			177			HORMA.		B5MEB2|Q8NHR2	Missense_Mutation	SNP	ENST00000336726.6	37	c.530A>C	CCDS46683.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.385071	0.25031	.	.	ENSG00000176635	ENST00000336726;ENST00000403975	T;T	0.29917	1.55;1.55	4.87	3.84	0.44239	DNA-binding HORMA (4);	0.509670	0.22130	N	0.064209	T	0.27489	0.0675	L	0.40543	1.245	0.24408	N	0.994674	B	0.27971	0.196	B	0.35859	0.212	T	0.20405	-1.0276	10	0.41790	T	0.15	-6.0571	8.6729	0.34161	0.9133:0.0:0.0867:0.0	.	177	Q8N7B1	HORM2_HUMAN	T	177	ENSP00000336984:N177T;ENSP00000385055:N177T	ENSP00000336984:N177T	N	+	2	0	HORMAD2	28847740	1.000000	0.71417	0.993000	0.49108	0.260000	0.26232	4.419000	0.59835	0.887000	0.36136	-0.264000	0.10439	AAT		0.348	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320416.2	NM_152510		11	37	0	0	0	1	0	11	37				
USP44	84101	broad.mit.edu	37	12	95911974	95911974	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:95911974G>C	ENST00000258499.3	-	6	2383	c.2095C>G	c.(2095-2097)Ccc>Gcc	p.P699A	USP44_ENST00000537435.2_Missense_Mutation_p.P699A|USP44_ENST00000552440.1_3'UTR|USP44_ENST00000393091.2_Missense_Mutation_p.P699A	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	699					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TCTTCATTGGGATGTTGGCTC	0.393																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(2095-2097)Ccc>Gcc		ubiquitin specific peptidase 44							115.0	113.0	114.0					12																	95911974		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95911974G>C	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.2095C>G	12.37:g.95911974G>C	ENSP00000258499:p.Pro699Ala		Somatic				USP44_ENST00000537435.2_Missense_Mutation_p.P699A|USP44_ENST00000393091.2_Missense_Mutation_p.P699A|USP44_ENST00000552440.1_3'UTR	p.P699A	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	WXS	Illumina GAIIx	Phase_I	Q9H0E7	UBP44_HUMAN			6	2383	-			699					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.2095C>G	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	G	5.464	0.270599	0.10349	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	T;T;T	0.03745	3.82;3.82;3.82	5.89	-0.791	0.10929	.	0.833806	0.10718	N	0.642104	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B	0.25563	0.129	B	0.18561	0.022	T	0.46148	-0.9212	10	0.44086	T	0.13	.	0.7352	0.00964	0.2903:0.1184:0.3487:0.2426	.	699	Q9H0E7	UBP44_HUMAN	A	699	ENSP00000258499:P699A;ENSP00000376806:P699A;ENSP00000442629:P699A	ENSP00000258499:P699A	P	-	1	0	USP44	94436105	0.481000	0.25941	0.080000	0.20451	0.091000	0.18340	0.834000	0.27518	0.077000	0.16863	-0.300000	0.09419	CCC		0.393	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		6	200	0	0	0	1	0	6	200				
MPPED1	758	broad.mit.edu	37	22	43831006	43831006	+	Missense_Mutation	SNP	G	G	A	rs529333273		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr22:43831006G>A	ENST00000417669.2	+	3	721	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000443721.1_Missense_Mutation_p.V93I|MPPED1_ENST00000538182.1_Missense_Mutation_p.V126I|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000542779.1_Missense_Mutation_p.V93I			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	93							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CACCCGCTTCGTCTGCGTCTC	0.652																																						ENST00000417669.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(277-279)Gtc>Atc		metallophosphoesterase domain containing 1							112.0	129.0	123.0					22																	43831006		2148	4243	6391	SO:0001583	missense	758						hydrolase activity	g.chr22:43831006G>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.277G>A	22.37:g.43831006G>A	ENSP00000388137:p.Val93Ile		Somatic				MPPED1_ENST00000542779.1_Missense_Mutation_p.V93I|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000443721.1_Missense_Mutation_p.V93I|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000538182.1_Missense_Mutation_p.V126I	p.V93I			WXS	Illumina GAIIx	Phase_I	O15442	MPPD1_HUMAN			3	721	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	93					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.277G>A	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	36	5.671468	0.96754	.	.	ENSG00000186732	ENST00000417669;ENST00000334209;ENST00000443721;ENST00000545165;ENST00000542779;ENST00000538182	T;T;T;T;T	0.61158	0.73;0.13;0.73;0.73;0.73	4.81	4.81	0.61882	.	0.130978	0.50627	D	0.000102	T	0.72382	0.3453	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.58520	0.84;0.578	T	0.77143	-0.2696	10	0.87932	D	0	-49.6804	18.2639	0.90046	0.0:0.0:1.0:0.0	.	126;93	B7Z2S9;O15442	.;MPPD1_HUMAN	I	93;93;93;71;93;126	ENSP00000388137:V93I;ENSP00000335568:V93I;ENSP00000400686:V93I;ENSP00000444532:V93I;ENSP00000438335:V126I	ENSP00000335568:V93I	V	+	1	0	MPPED1	42160950	1.000000	0.71417	0.958000	0.39756	0.916000	0.54674	9.206000	0.95056	2.374000	0.81015	0.561000	0.74099	GTC		0.652	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		6	158	0	0	0	1	0	6	158				
B3GALT5	10317	broad.mit.edu	37	21	41033355	41033355	+	Missense_Mutation	SNP	G	G	A	rs376663833		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr21:41033355G>A	ENST00000380620.4	+	5	1461	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Missense_Mutation_p.R290Q|B3GALT5_ENST00000380618.1_Missense_Mutation_p.R290Q|B3GALT5_ENST00000343118.4_Missense_Mutation_p.R290Q			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	290					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ATCAAGCCTCGGACTCTCTTG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14845	0.0		0.0	False		,,,				2504	0.0					ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(868-870)cGg>cAg		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	5,4401		0,5,2198	53.0	54.0	54.0		869,869,869,869,869	-2.4	0.0	21		54	0,8596		0,0,4298	no	missense,missense,missense,missense,missense	B3GALT5	NM_006057.1,NM_033170.1,NM_033171.1,NM_033172.1,NM_033173.1	43,43,43,43,43	0,5,6496	AA,AG,GG		0.0,0.1135,0.0385	benign,benign,benign,benign,benign	290/311,290/311,290/311,290/311,290/311	41033355	5,12997	2203	4298	6501	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033355G>A	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.869G>A	21.37:g.41033355G>A	ENSP00000369994:p.Arg290Gln		Somatic				B3GALT5_ENST00000398714.2_Missense_Mutation_p.R290Q|B3GALT5_ENST00000343118.4_Missense_Mutation_p.R290Q|B3GALT5_ENST00000380618.1_Missense_Mutation_p.R290Q|AF064860.5_ENST00000416555.1_RNA	p.R290Q			WXS	Illumina GAIIx	Phase_I	Q9Y2C3	B3GT5_HUMAN			5	1461	+		Prostate(19;2.55e-06)	290					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.869G>A	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	7.879	0.729804	0.15507	0.001135	0.0	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.51	-2.43	0.06522	.	3.480220	0.01103	N	0.005410	T	0.17195	0.0413	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18618	-1.0331	10	0.12766	T	0.61	.	8.4961	0.33130	0.3916:0.3126:0.2958:0.0	.	290	Q9Y2C3	B3GT5_HUMAN	Q	290	ENSP00000369994:R290Q;ENSP00000369992:R290Q;ENSP00000343318:R290Q;ENSP00000381699:R290Q	ENSP00000343318:R290Q	R	+	2	0	B3GALT5	39955225	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.041000	0.13927	-0.408000	0.07565	-0.340000	0.08031	CGG		0.577	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		4	78	0	0	0	1	0	4	78				
CACNA2D4	93589	broad.mit.edu	37	12	2016629	2016629	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:2016629G>A	ENST00000382722.5	-	6	1120	c.758C>T	c.(757-759)aCt>aTt	p.T253I	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T189I|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T189I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	253					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAAGAATCCAGTTGCACTGCC	0.468																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(757-759)aCt>aTt		calcium channel, voltage-dependent, alpha 2/delta subunit 4							73.0	72.0	72.0					12																	2016629		1950	4142	6092	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2016629G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.758C>T	12.37:g.2016629G>A	ENSP00000372169:p.Thr253Ile		Somatic				CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T189I|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T189I	p.T253I	NM_172364.4	NP_758952.4	WXS	Illumina GAIIx	Phase_I	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	6	1120	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	253					Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.758C>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349236	0.82132	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.09630	2.96	5.31	5.31	0.75309	VWA N-terminal (1);	0.270733	0.41097	D	0.000943	T	0.41719	0.1171	M	0.89715	3.055	0.22851	N	0.998656	P;D	0.64830	0.946;0.994	P;D	0.67900	0.73;0.954	T	0.43426	-0.9392	10	0.87932	D	0	.	18.5983	0.91236	0.0:0.0:1.0:0.0	.	253;253	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	I	189;253;253	ENSP00000372169:T253I	ENSP00000280663:T253I	T	-	2	0	CACNA2D4	1886890	0.999000	0.42202	0.955000	0.39395	0.906000	0.53458	4.392000	0.59659	2.498000	0.84270	0.561000	0.74099	ACT		0.468	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			15	34	0	0	0	1	0	15	34				
REG4	83998	broad.mit.edu	37	1	120342348	120342348	+	Splice_Site	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:120342348C>G	ENST00000354219.1	-	5	742	c.303G>C	c.(301-303)aaG>aaC	p.K101N	REG4_ENST00000256585.5_Splice_Site_p.K101N|REG4_ENST00000530654.1_Splice_Site_p.K101N	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	101	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|Carbohydrate-binding.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		CTGAGGTTACCTTCTGTGGGT	0.532																																						ENST00000354219.1																			0				central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15						c.e5+1		regenerating islet-derived family, member 4							141.0	131.0	134.0					1																	120342348		2203	4300	6503	SO:0001630	splice_region_variant	83998					extracellular region	sugar binding	g.chr1:120342348C>G	AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"""regenerating gene type IV"", "" gastrointestinal secretory protein"""	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.303+1G>C	1.37:g.120342348C>G			Somatic				REG4_ENST00000530654.1_Splice_Site_p.K101_splice|REG4_ENST00000256585.5_Splice_Site_p.K101_splice	p.K101_splice	NM_001159352.1	NP_001152824.1	WXS	Illumina GAIIx	Phase_I	Q9BYZ8	REG4_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)	5	742	-	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)	101			C-type lectin.		Q8NER6|Q8NER7	Splice_Site	SNP	ENST00000354219.1	37	c.303_splice	CCDS906.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102945	0.76983	.	.	ENSG00000134193	ENST00000354219;ENST00000256585;ENST00000369402;ENST00000530654	T;T;T	0.18657	2.2;2.2;2.76	4.89	4.89	0.63831	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.267708	0.32055	N	0.006649	T	0.26376	0.0644	L	0.47190	1.495	0.80722	D	1	D	0.58970	0.984	D	0.65443	0.935	T	0.00533	-1.1685	9	.	.	.	-25.6807	13.4695	0.61273	0.0:1.0:0.0:0.0	.	101	Q9BYZ8	REG4_HUMAN	N	101	ENSP00000346158:K101N;ENSP00000256585:K101N;ENSP00000437135:K101N	.	K	-	3	2	REG4	120143871	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	3.190000	0.50973	2.551000	0.86045	0.650000	0.86243	AAG		0.532	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044	Missense_Mutation	31	115	0	0	0	1	0	31	115				
MGAT4C	25834	broad.mit.edu	37	12	86373526	86373526	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:86373526C>T	ENST00000604798.1	-	8	2182	c.978G>A	c.(976-978)aaG>aaA	p.K326K	MGAT4C_ENST00000549405.2_Silent_p.K326K|MGAT4C_ENST00000552808.2_Silent_p.K326K|MGAT4C_ENST00000393205.2_Silent_p.K355K|MGAT4C_ENST00000332156.1_Silent_p.K326K|MGAT4C_ENST00000548651.1_Silent_p.K326K|MGAT4C_ENST00000552435.2_3'UTR			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	326					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AATCATCATCCTTCAGCTTAT	0.408																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(976-978)aaG>aaA		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							81.0	79.0	80.0					12																	86373526		2203	4300	6503	SO:0001819	synonymous_variant	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373526C>T		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.978G>A	12.37:g.86373526C>T			Somatic				MGAT4C_ENST00000393205.2_Silent_p.K355K|MGAT4C_ENST00000549405.2_Silent_p.K326K|MGAT4C_ENST00000332156.1_Silent_p.K326K|MGAT4C_ENST00000552808.2_Silent_p.K326K|MGAT4C_ENST00000552435.2_3'UTR|MGAT4C_ENST00000548651.1_Silent_p.K326K	p.K326K			WXS	Illumina GAIIx	Phase_I	Q9UBM8	MGT4C_HUMAN			8	2182	-			326					B4DRH2|Q4G199|Q9UIU5	Silent	SNP	ENST00000604798.1	37	c.978G>A	CCDS9030.1																																																																																				0.408	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		34	109	0	0	0	1	0	34	109				
PIK3CB	5291	broad.mit.edu	37	3	138374292	138374292	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:138374292T>C	ENST00000477593.1	-	23	3225	c.3152A>G	c.(3151-3153)gAa>gGa	p.E1051G	PIK3CB_ENST00000544716.1_Missense_Mutation_p.E502G|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E1051G			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1051	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGTCCAGCTTTCCCTGAGCGC	0.423																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(3151-3153)gAa>gGa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							127.0	118.0	121.0					3																	138374292		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374292T>C		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3152A>G	3.37:g.138374292T>C	ENSP00000418143:p.Glu1051Gly		Somatic				PIK3CB_ENST00000289153.2_Missense_Mutation_p.E1051G|PIK3CB_ENST00000544716.1_Missense_Mutation_p.E502G	p.E1051G			WXS	Illumina GAIIx	Phase_I	P42338	PK3CB_HUMAN			23	3225	-			1051			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3152A>G	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.22|12.22	1.871803|1.871803	0.33069|0.33069	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.80909|.	-1.43;-1.43;-1.43|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48943|0.48943	0.1528|0.1528	N|N	0.16098|0.16098	0.37|0.37	0.80722|0.80722	D|D	1|1	P;B;B|.	0.36909|.	0.573;0.23;0.181|.	B;B;B|.	0.30716|.	0.119;0.119;0.04|.	T|T	0.45716|0.45716	-0.9242|-0.9242	10|5	0.02654|.	T|.	1|.	-29.6367|-29.6367	15.8615|15.8615	0.79026|0.79026	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1051;638;502|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	G|E	1051;502;1051|683	ENSP00000418143:E1051G;ENSP00000438259:E502G;ENSP00000289153:E1051G|.	ENSP00000289153:E1051G|.	E|K	-|-	2|1	0|0	PIK3CB|PIK3CB	139856982|139856982	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.868000|7.868000	0.87116|0.87116	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.423	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			4	166	0	0	0	1	0	4	166				
IGHV3-73	28409	broad.mit.edu	37	14	107211103	107211103	+	RNA	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr14:107211103T>C	ENST00000390636.2	-	0	265									immunoglobulin heavy variable 3-73																		ACTCCAGCCCTTTCCCGGAAG	0.572																																						ENST00000390636.2																			0																				75.0	76.0	76.0					14																	107211103		1924	4130	6054			28409							g.chr14:107211103T>C	Z27508		14q32.33	2012-02-08			ENSG00000211976	ENSG00000211976		"""Immunoglobulins / IGH locus"""	5623	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151867		14.37:g.107211103T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	265	-									RNA	SNP	ENST00000390636.2	37																																																																																						0.572	IGHV3-73-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324212.1	NG_001019		3	75	0	0	0	1	0	3	75				
TMEM45B	120224	broad.mit.edu	37	11	129722478	129722478	+	Missense_Mutation	SNP	G	G	A	rs369904524		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:129722478G>A	ENST00000524567.1	+	2	382	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	TMEM45B_ENST00000281441.3_Missense_Mutation_p.R34Q			Q96B21	TM45B_HUMAN	transmembrane protein 45B	34						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		AGCCACACGCGGAAGAACAGC	0.507																																						ENST00000281441.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(100-102)cGg>cAg		transmembrane protein 45B		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	163.0	146.0	152.0		101	-1.0	0.0	11		152	0,8594		0,0,4297	no	missense	TMEM45B	NM_138788.3	43	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign	34/276	129722478	1,12995	2201	4297	6498	SO:0001583	missense	120224					integral to membrane		g.chr11:129722478G>A	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.101G>A	11.37:g.129722478G>A	ENSP00000436293:p.Arg34Gln		Somatic				TMEM45B_ENST00000524567.1_Missense_Mutation_p.R34Q	p.R34Q	NM_138788.3	NP_620143.1	WXS	Illumina GAIIx	Phase_I	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	2	189	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	34					A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	c.101G>A	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	G	7.054	0.564987	0.13498	2.27E-4	0.0	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.34275	1.37;1.37	5.64	-0.988	0.10245	.	0.748192	0.13401	N	0.390610	T	0.11153	0.0272	N	0.02960	-0.455	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31724	-0.9933	10	0.10377	T	0.69	-17.4842	4.3237	0.11029	0.3545:0.0:0.4153:0.2301	.	34	Q96B21	TM45B_HUMAN	Q	34	ENSP00000281441:R34Q;ENSP00000436293:R34Q	ENSP00000281441:R34Q	R	+	2	0	TMEM45B	129227688	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.032000	0.13732	-0.179000	0.10654	-0.982000	0.02568	CGG		0.507	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		35	118	0	0	0	1	0	35	118				
BTBD7	55727	broad.mit.edu	37	14	93762381	93762381	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr14:93762381G>C	ENST00000334746.5	-	2	324	c.17C>G	c.(16-18)tCt>tGt	p.S6C	BTBD7_ENST00000298896.3_Missense_Mutation_p.S6C|BTBD7_ENST00000555525.1_Missense_Mutation_p.S6C|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000393170.2_5'Flank	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	6					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGGATAATTAGATGCATTAGC	0.433																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(16-18)tCt>tGt		BTB (POZ) domain containing 7							81.0	75.0	77.0					14																	93762381		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93762381G>C	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.17C>G	14.37:g.93762381G>C	ENSP00000335615:p.Ser6Cys		Somatic				BTBD7_ENST00000555525.1_Missense_Mutation_p.S6C|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.S6C	p.S6C	NM_001002860.2	NP_001002860.2	WXS	Illumina GAIIx	Phase_I	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	2	324	-		all_cancers(154;0.08)	6					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.17C>G	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574142	0.65878	.	.	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525;ENST00000554968	T	0.53423	0.62	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	L	0.48642	1.525	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.987;0.99	T	0.66228	-0.5976	10	0.87932	D	0	.	19.615	0.95630	0.0:0.0:1.0:0.0	.	6;6	Q9P203-3;Q9P203	.;BTBD7_HUMAN	C	6	ENSP00000335615:S6C	ENSP00000298896:S6C	S	-	2	0	BTBD7	92832134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.632000	0.89209	0.650000	0.86243	TCT		0.433	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		4	111	0	0	0	1	0	4	111				
ZSWIM4	65249	broad.mit.edu	37	19	13941546	13941546	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:13941546C>T	ENST00000254323.2	+	13	2841	c.2652C>T	c.(2650-2652)cgC>cgT	p.R884R	ZSWIM4_ENST00000440752.2_Silent_p.R718R	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	884							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ATATTCTGCGCCGCTGGACTC	0.697																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2650-2652)cgC>cgT		zinc finger, SWIM-type containing 4							68.0	69.0	69.0					19																	13941546		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13941546C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2652C>T	19.37:g.13941546C>T			Somatic				ZSWIM4_ENST00000440752.2_Silent_p.R718R	p.R884R	NM_023072.2	NP_075560.2	WXS	Illumina GAIIx	Phase_I	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2841	+			884						Silent	SNP	ENST00000254323.2	37	c.2652C>T	CCDS32924.1																																																																																				0.697	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		29	94	0	0	0	1	0	29	94				
HCRTR2	3062	broad.mit.edu	37	6	55119936	55119936	+	Silent	SNP	C	C	T	rs199900684		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:55119936C>T	ENST00000370862.3	+	3	741	c.405C>T	c.(403-405)acC>acT	p.T135T		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	135					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCTCTAGACCGTGTCGGTGT	0.408																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(403-405)acC>acT		hypocretin (orexin) receptor 2							99.0	89.0	92.0					6																	55119936		2203	4300	6503	SO:0001819	synonymous_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55119936C>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.405C>T	6.37:g.55119936C>T			Somatic					p.T135T	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	741	+	Lung NSC(77;0.107)|Renal(3;0.122)		135					Q5VTM0	Silent	SNP	ENST00000370862.3	37	c.405C>T	CCDS4956.1																																																																																				0.408	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			3	68	0	0	0	1	0	3	68				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	64	0	0	0	1	0	4	64				
SMU1	55234	broad.mit.edu	37	9	33073796	33073796	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr9:33073796C>T	ENST00000397149.3	-	2	85	c.35G>A	c.(34-36)cGc>cAc	p.R12H	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	12	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CATAATAAGGCGGATCACACT	0.443																																						ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(34-36)cGc>cAc		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							73.0	69.0	70.0					9																	33073796		2203	4300	6503	SO:0001583	missense	55234					cytoplasm|nucleus		g.chr9:33073796C>T	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.35G>A	9.37:g.33073796C>T	ENSP00000380336:p.Arg12His		Somatic				SMU1_ENST00000536631.1_Intron	p.R12H	NM_018225.2	NP_060695.2	WXS	Illumina GAIIx	Phase_I	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	2	85	-			12			LisH.		B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP	ENST00000397149.3	37	c.35G>A	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055897	0.76074	.	.	ENSG00000122692	ENST00000397149	T	0.65732	-0.17	5.35	5.35	0.76521	LisH dimerisation motif (2);	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	M	0.93283	3.4	0.80722	D	1	P;P	0.42871	0.792;0.792	B;B	0.37304	0.246;0.246	T	0.81459	-0.0923	10	0.87932	D	0	-16.7506	16.9282	0.86182	0.0:1.0:0.0:0.0	.	12;12	A0MNN4;Q2TAY7	.;SMU1_HUMAN	H	12	ENSP00000380336:R12H	ENSP00000380336:R12H	R	-	2	0	SMU1	33063796	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	7.598000	0.82745	2.662000	0.90505	0.563000	0.77884	CGC		0.443	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		4	75	0	0	0	1	0	4	75				
ZNF318	24149	broad.mit.edu	37	6	43333135	43333135	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:43333135A>C	ENST00000361428.2	-	2	520	c.443T>G	c.(442-444)tTa>tGa	p.L148*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.L148*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	148					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGTGATCCTTAAGCTCTTTTC	0.468																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(442-444)tTa>tGa		zinc finger protein 318							96.0	92.0	93.0					6																	43333135		2203	4300	6503	SO:0001587	stop_gained	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43333135A>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.443T>G	6.37:g.43333135A>C	ENSP00000354964:p.Leu148*		Somatic				ZNF318_ENST00000318149.3_Nonsense_Mutation_p.L148*	p.L148*	NM_014345.2	NP_055160.2	WXS	Illumina GAIIx	Phase_I	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		2	520	-			148					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Nonsense_Mutation	SNP	ENST00000361428.2	37	c.443T>G	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	a	37	6.025574	0.97216	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	.	.	.	5.29	5.29	0.74685	.	0.000000	0.32901	N	0.005505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7331	13.8137	0.63278	1.0:0.0:0.0:0.0	.	.	.	.	X	148	.	ENSP00000323032:L148X	L	-	2	0	ZNF318	43441113	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.666000	0.68059	2.007000	0.58848	0.449000	0.29647	TTA		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		3	96	0	0	0	1	0	3	96				
PGBD4	161779	broad.mit.edu	37	15	34396086	34396086	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr15:34396086T>C	ENST00000397766.2	+	1	1813	c.1354T>C	c.(1354-1356)Tat>Cat	p.Y452H	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	452										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CAAGGTTTGGTATAAGAAATT	0.408																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(1354-1356)Tat>Cat		piggyBac transposable element derived 4							75.0	70.0	72.0					15																	34396086		2201	4298	6499	SO:0001583	missense	161779							g.chr15:34396086T>C	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1354T>C	15.37:g.34396086T>C	ENSP00000380872:p.Tyr452His		Somatic					p.Y452H	NM_152595.4	NP_689808.2	WXS	Illumina GAIIx	Phase_I	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1813	+		all_lung(180;1.76e-08)	452					A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	c.1354T>C	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	t	17.65	3.441203	0.63067	.	.	ENSG00000182405	ENST00000397766	T	0.19394	2.15	1.02	1.02	0.19986	.	0.103999	0.39274	U	0.001402	T	0.29061	0.0722	L	0.46819	1.47	0.22811	N	0.998708	D	0.89917	1.0	D	0.91635	0.999	T	0.13019	-1.0525	10	0.16896	T	0.51	.	6.1702	0.20412	0.0:0.0:0.0:1.0	.	452	Q96DM1	PGBD4_HUMAN	H	452	ENSP00000380872:Y452H	ENSP00000380872:Y452H	Y	+	1	0	PGBD4	32183378	0.981000	0.34729	0.171000	0.22900	0.951000	0.60555	0.775000	0.26689	0.714000	0.32081	0.255000	0.18592	TAT		0.408	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			7	162	0	0	0	1	0	7	162				
MT-ND2	4536	broad.mit.edu	37	M	2465	2465	+	5'Flank	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrM:2465T>C	ENST00000361453.3	+	0	0				MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						GGTTAAAAAAAGTAAAAGGAA	0.433																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	100616263							g.chrM:2465T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2465T>C	Exception_encountered		Somatic						NR_039705.1		WXS	Illumina GAIIx	Phase_I					0	795	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.433	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		2	7	0	0	0	1	0	2	7				
OR8D2	283160	broad.mit.edu	37	11	124189591	124189591	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:124189591A>C	ENST00000357438.2	-	1	593	c.503T>G	c.(502-504)tTc>tGc	p.F168C		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGACCTACAGAATGACAACAC	0.458																																						ENST00000357438.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(502-504)tTc>tGc		olfactory receptor, family 8, subfamily D, member 2							109.0	100.0	103.0					11																	124189591		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189591A>C	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.503T>G	11.37:g.124189591A>C	ENSP00000350022:p.Phe168Cys		Somatic					p.F168C	NM_001002918.1	NP_001002918.1	WXS	Illumina GAIIx	Phase_I	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	593	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	168					B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.503T>G	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	a	16.08	3.020968	0.54576	.	.	ENSG00000197263	ENST00000357438	T	0.00211	8.54	3.73	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000126	T	0.00666	0.0022	M	0.92412	3.305	0.21579	N	0.999631	D	0.89917	1.0	D	0.91635	0.999	T	0.20438	-1.0275	10	0.87932	D	0	.	9.3544	0.38157	0.9101:0.0:0.0899:0.0	.	168	Q9GZM6	OR8D2_HUMAN	C	168	ENSP00000350022:F168C	ENSP00000350022:F168C	F	-	2	0	OR8D2	123694801	0.973000	0.33851	0.308000	0.25141	0.390000	0.30446	1.657000	0.37366	0.815000	0.34398	0.432000	0.28606	TTC		0.458	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		22	87	0	0	0	1	0	22	87				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713774A>G																													1.37:g.142713774A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	101	0	0	0	1	0	3	101				
HSPB2	3316	broad.mit.edu	37	11	111784509	111784509	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:111784509C>G	ENST00000304298.3	+	2	1027	c.439C>G	c.(439-441)Cct>Gct	p.P147A	CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000533475.1_5'UTR|CRYAB_ENST00000533971.1_5'Flank|CRYAB_ENST00000525823.1_5'Flank|HSPB2_ENST00000537382.1_Missense_Mutation_p.P147A|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000531198.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	147					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CCTGGAAGCACCTCGGGGTGG	0.592																																						ENST00000304298.3																			0				large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(439-441)Cct>Gct		heat shock 27kDa protein 2							57.0	55.0	55.0					11																	111784509		2201	4297	6498	SO:0001583	missense	3316				response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding	g.chr11:111784509C>G	U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"""Heat shock proteins / HSPB"""	5247	protein-coding gene	gene with protein product		602179	"""heat shock 27kD protein 2"""			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.439C>G	11.37:g.111784509C>G	ENSP00000302476:p.Pro147Ala		Somatic				CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|HSPB2_ENST00000537382.1_Missense_Mutation_p.P147A|CRYAB_ENST00000533475.1_5'UTR	p.P147A	NM_001541.3	NP_001532.1	WXS	Illumina GAIIx	Phase_I	Q16082	HSPB2_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	1027	+		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	147					Q6I9U7	Missense_Mutation	SNP	ENST00000304298.3	37	c.439C>G	CCDS8352.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113281	0.77210	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.93307	-3.2;-3.2	5.22	5.22	0.72569	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.64402	D	0.000001	D	0.95245	0.8458	M	0.80028	2.48	0.46954	D	0.999263	P	0.46784	0.884	P	0.48704	0.587	D	0.95736	0.8779	10	0.72032	D	0.01	-13.5753	19.1381	0.93436	0.0:1.0:0.0:0.0	.	147	Q16082	HSPB2_HUMAN	A	147	ENSP00000302476:P147A;ENSP00000445585:P147A	ENSP00000302476:P147A	P	+	1	0	HSPB2	111289719	0.998000	0.40836	0.983000	0.44433	0.991000	0.79684	6.174000	0.71943	2.607000	0.88179	0.650000	0.86243	CCT		0.592	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1			19	51	0	0	0	1	0	19	51				
SPATA20	64847	broad.mit.edu	37	17	48632612	48632612	+	Missense_Mutation	SNP	G	G	A	rs200648820		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr17:48632612G>A	ENST00000356488.4	+	15	2212	c.2129G>A	c.(2128-2130)cGt>cAt	p.R710H	SPATA20_ENST00000393244.3_Missense_Mutation_p.R666H|SPATA20_ENST00000511937.1_3'UTR|CACNA1G-AS1_ENST00000505495.1_RNA|SPATA20_ENST00000006658.6_Missense_Mutation_p.R726H|CACNA1G-AS1_ENST00000508920.1_RNA|CACNA1G-AS1_ENST00000505793.1_RNA	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	710					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGTGGAGACCGTCAGGCCAAG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19170	0.001		0.0	False		,,,				2504	0.0					ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2176-2178)cGt>cAt		spermatogenesis associated 20							200.0	148.0	165.0					17																	48632612		2203	4300	6503	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48632612G>A		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.2129G>A	17.37:g.48632612G>A	ENSP00000348878:p.Arg710His		Somatic				SPATA20_ENST00000393244.3_Missense_Mutation_p.R666H|SPATA20_ENST00000356488.4_Missense_Mutation_p.R710H|SPATA20_ENST00000511937.1_3'UTR	p.R726H	NM_022827.3	NP_073738.2	WXS	Illumina GAIIx	Phase_I	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		16	2297	+	Breast(11;1.23e-18)		710					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.2177G>A	CCDS58563.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.84	2.358584	0.41801	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.23147	1.92;1.92;1.93	5.25	3.2	0.36748	.	0.292405	0.32273	N	0.006327	T	0.35068	0.0919	M	0.68317	2.08	0.25605	N	0.986556	P;D	0.57571	0.841;0.98	B;P	0.51229	0.339;0.663	T	0.15549	-1.0433	10	0.49607	T	0.09	-19.1517	10.2654	0.43452	0.133:0.5542:0.3128:0.0	.	710;726	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	H	726;710;666	ENSP00000006658:R726H;ENSP00000348878:R710H;ENSP00000376935:R666H	ENSP00000006658:R726H	R	+	2	0	SPATA20	45987611	0.746000	0.28272	0.998000	0.56505	0.956000	0.61745	1.702000	0.37836	0.564000	0.29238	0.555000	0.69702	CGT		0.597	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		4	58	0	0	0	1	0	4	58				
CCDC112	153733	broad.mit.edu	37	5	114620527	114620527	+	5'UTR	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr5:114620527T>C	ENST00000512261.1	-	0	234				CCDC112_ENST00000503027.1_Intron|CCDC112_ENST00000379611.5_Missense_Mutation_p.K66E|CCDC112_ENST00000395557.4_5'UTR|CCDC112_ENST00000506442.1_5'UTR			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112											endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TCTGCTTTCTTAGTCTGATTA	0.323																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(196-198)Aag>Gag		coiled-coil domain containing 112							70.0	68.0	68.0					5																	114620527		2202	4300	6502	SO:0001623	5_prime_UTR_variant	153733							g.chr5:114620527T>C	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.-183A>G	5.37:g.114620527T>C			Somatic				CCDC112_ENST00000395557.4_5'UTR|CCDC112_ENST00000506442.1_5'UTR|CCDC112_ENST00000503027.1_Intron|CCDC112_ENST00000512261.1_5'UTR	p.K66E	NM_001040440.2	NP_001035530.1	WXS	Illumina GAIIx	Phase_I	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	2	483	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	0					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.196A>G	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162234	0.78226	.	.	ENSG00000164221	ENST00000379611	T	0.21361	2.01	5.57	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	.	.	.	0.80722	D	1	P	0.45474	0.859	B	0.43155	0.41	T	0.01266	-1.1401	9	0.45353	T	0.12	-19.0077	11.2047	0.48762	0.0:0.0718:0.0:0.9282	.	66	Q8NEF3-2	.	E	66	ENSP00000368931:K66E	ENSP00000368931:K66E	K	-	1	0	CCDC112	114648426	1.000000	0.71417	0.948000	0.38648	0.922000	0.55478	3.938000	0.56583	2.248000	0.74166	0.533000	0.62120	AAG		0.323	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		3	108	0	0	0	1	0	3	108				
DBR1	51163	broad.mit.edu	37	3	137885942	137885942	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:137885942G>A	ENST00000260803.4	-	5	848	c.695C>T	c.(694-696)gCc>gTc	p.A232V	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	232					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CATCAAGGCGGCAAACTTCAC	0.393																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(694-696)gCc>gTc		debranching RNA lariats 1							85.0	79.0	81.0					3																	137885942		2203	4300	6503	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137885942G>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.695C>T	3.37:g.137885942G>A	ENSP00000260803:p.Ala232Val		Somatic				DBR1_ENST00000505015.2_5'UTR	p.A232V	NM_016216.3	NP_057300.2	WXS	Illumina GAIIx	Phase_I	Q9UK59	DBR1_HUMAN			5	848	-			232					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.695C>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079363	0.76528	.	.	ENSG00000138231	ENST00000260803	T	0.42131	0.98	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	M	0.77313	2.365	0.80722	D	1	P	0.46512	0.879	P	0.45881	0.496	T	0.59762	-0.7393	10	0.59425	D	0.04	-1.8686	16.8747	0.86048	0.0:0.0:1.0:0.0	.	232	Q9UK59	DBR1_HUMAN	V	232	ENSP00000260803:A232V	ENSP00000260803:A232V	A	-	2	0	DBR1	139368632	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.578000	0.87016	0.655000	0.94253	GCC		0.393	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			4	116	0	0	0	1	0	4	116				
C1orf141	400757	broad.mit.edu	37	1	67561005	67561005	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:67561005C>T	ENST00000371007.2	-	7	625	c.516G>A	c.(514-516)ttG>ttA	p.L172L	C1orf141_ENST00000371006.1_Silent_p.L172L|C1orf141_ENST00000544837.1_Silent_p.L172L	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	172										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						ACAACGGGAGCAAGCTTTTCT	0.333																																						ENST00000371007.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(514-516)ttG>ttA		chromosome 1 open reading frame 141							124.0	109.0	114.0					1																	67561005		2202	4300	6502	SO:0001819	synonymous_variant	400757							g.chr1:67561005C>T	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.516G>A	1.37:g.67561005C>T			Somatic				C1orf141_ENST00000544837.1_Silent_p.L172L|C1orf141_ENST00000371006.1_Silent_p.L172L	p.L172L	NM_001276351.1	NP_001263280.1	WXS	Illumina GAIIx	Phase_I	Q5JVX7	CA141_HUMAN			7	625	-			172					Q0P5P5|Q5JVX5	Silent	SNP	ENST00000371007.2	37	c.516G>A	CCDS30745.1																																																																																				0.333	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		18	72	0	0	0	1	0	18	72				
HUWE1	10075	broad.mit.edu	37	X	53595734	53595734	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrX:53595734T>C	ENST00000342160.3	-	48	7082	c.6625A>G	c.(6625-6627)Atg>Gtg	p.M2209V	HUWE1_ENST00000262854.6_Missense_Mutation_p.M2209V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2209					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGTTGTTCATGCCATTGTGC	0.517																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(6625-6627)Atg>Gtg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							168.0	121.0	137.0					X																	53595734		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53595734T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6625A>G	X.37:g.53595734T>C	ENSP00000340648:p.Met2209Val		Somatic				HUWE1_ENST00000262854.6_Missense_Mutation_p.M2209V	p.M2209V			WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			48	7082	-			2209					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.6625A>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.23|12.23	1.876344|1.876344	0.33162|0.33162	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.36878	.|1.23;1.23	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24236|0.24236	0.0587|0.0587	N|N	0.22421|0.22421	0.69|0.69	0.47737|0.47737	D|D	0.999505|0.999505	.|B;B	.|0.16396	.|0.003;0.017	.|B;B	.|0.15484	.|0.006;0.013	T|T	0.07635|0.07635	-1.0762|-1.0762	5|10	.|0.12766	.|T	.|0.61	.|.	13.5332|13.5332	0.61633|0.61633	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2209;2209	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	R|V	1242|2209	.|ENSP00000340648:M2209V;ENSP00000262854:M2209V	.|ENSP00000262854:M2209V	H|M	-|-	2|1	0|0	HUWE1|HUWE1	53612459|53612459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.962000|4.962000	0.63687|0.63687	1.839000|1.839000	0.53478|0.53478	0.486000|0.486000	0.48141|0.48141	CAT|ATG		0.517	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		9	29	0	0	0	1	0	9	29				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		6	90	0	0	0	1	0	6	90				
RALGAPA2	57186	broad.mit.edu	37	20	20621392	20621392	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr20:20621392G>T	ENST00000202677.7	-	6	510	c.503C>A	c.(502-504)cCt>cAt	p.P168H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	168					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CAGTGTGCAAGGGCCCCTGGA	0.478																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(502-504)cCt>cAt		Ral GTPase activating protein, alpha subunit 2 (catalytic)							100.0	100.0	100.0					20																	20621392		1930	4140	6070	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20621392G>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.503C>A	20.37:g.20621392G>T	ENSP00000202677:p.Pro168His		Somatic					p.P168H	NM_020343.3	NP_065076.2	WXS	Illumina GAIIx	Phase_I	Q2PPJ7	RGPA2_HUMAN			6	645	-			168					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.503C>A	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994346	0.74703	.	.	ENSG00000188559	ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161	T;T;T	0.78707	-1.2;-1.2;-1.2	5.62	4.66	0.58398	.	0.000000	0.85682	U	0.000000	D	0.85186	0.5639	M	0.78801	2.425	0.51012	D	0.999905	D	0.62365	0.991	P	0.56434	0.798	D	0.87186	0.2231	10	0.66056	D	0.02	.	14.882	0.70540	0.0694:0.0:0.9306:0.0	.	168	Q2PPJ7	RGPA2_HUMAN	H	168;20;20;168	ENSP00000202677:P168H;ENSP00000400901:P20H;ENSP00000412795:P168H	ENSP00000202677:P168H	P	-	2	0	RALGAPA2	20569392	1.000000	0.71417	0.998000	0.56505	0.560000	0.35617	6.253000	0.72453	1.373000	0.46208	0.591000	0.81541	CCT		0.478	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		4	99	1	0	0.014758	1	0.0155033	4	99				
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1411							ion channel inhibitor activity (GO:0008200)	p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383																																						ENST00000456556.1																			9	Substitution - Missense(9)	p.H662R(6)|p.H1411R(3)	kidney(6)|lung(3)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4231-4233)cAt>cGt		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96521777T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg		Somatic				ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R	p.H1411R			WXS	Illumina GAIIx	Phase_I					63	4316	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.4232A>G		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT		0.383	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	34	0	0	0	1	0	3	34				
UNC5B	219699	broad.mit.edu	37	10	73053294	73053294	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:73053294T>A	ENST00000335350.6	+	12	2321	c.1905T>A	c.(1903-1905)ttT>ttA	p.F635L	UNC5B_ENST00000373192.4_Missense_Mutation_p.F624L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	635	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACTGGATCTTTCAGCTCAAGA	0.657																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1903-1905)ttT>ttA		unc-5 homolog B (C. elegans)							80.0	80.0	80.0					10																	73053294		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73053294T>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1905T>A	10.37:g.73053294T>A	ENSP00000334329:p.Phe635Leu		Somatic				UNC5B_ENST00000373192.4_Missense_Mutation_p.F624L	p.F635L	NM_170744.4	NP_734465.2	WXS	Illumina GAIIx	Phase_I	Q8IZJ1	UNC5B_HUMAN			12	2321	+			635			ZU5.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1905T>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	T	8.653	0.898810	0.17686	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.39406	1.08;1.08	4.9	3.0	0.34707	ZU5 (3);	0.203652	0.43747	D	0.000533	T	0.14485	0.0350	N	0.04162	-0.26	0.41207	D	0.986414	B;B	0.13145	0.005;0.007	B;B	0.13407	0.005;0.009	T	0.09930	-1.0652	10	0.07175	T	0.84	-28.9949	2.8432	0.05535	0.1446:0.5523:0.1407:0.1625	.	624;635	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	L	635;624	ENSP00000334329:F635L;ENSP00000362288:F624L	ENSP00000334329:F635L	F	+	3	2	UNC5B	72723300	1.000000	0.71417	0.997000	0.53966	0.737000	0.42083	1.576000	0.36504	0.450000	0.26774	-0.464000	0.05259	TTT		0.657	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		8	142	0	0	0	1	0	8	142				
ITPR3	3710	broad.mit.edu	37	6	33630395	33630395	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:33630395A>G	ENST00000374316.5	+	9	1862	c.802A>G	c.(802-804)Aca>Gca	p.T268A	ITPR3_ENST00000605930.1_Missense_Mutation_p.T268A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	268	Inositol 1,4,5-trisphosphate binding. {ECO:0000250}.|MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCTGCGAACTACACTGCGCCA	0.612																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(802-804)Aca>Gca		inositol 1,4,5-trisphosphate receptor, type 3							97.0	76.0	83.0					6																	33630395		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33630395A>G	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.802A>G	6.37:g.33630395A>G	ENSP00000363435:p.Thr268Ala		Somatic				ITPR3_ENST00000605930.1_Missense_Mutation_p.T268A	p.T268A			WXS	Illumina GAIIx	Phase_I	Q14573	ITPR3_HUMAN			9	1862	+			268			Inositol-1,4,5-triphosphate binding (By similarity).|MIR 3.		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.802A>G	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709764	0.68730	.	.	ENSG00000096433	ENST00000374316	D	0.92752	-3.1	5.61	5.61	0.85477	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.96383	0.8820	M	0.89601	3.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97282	0.9918	10	0.87932	D	0	-23.7825	15.7952	0.78404	1.0:0.0:0.0:0.0	.	268	Q14573	ITPR3_HUMAN	A	268	ENSP00000363435:T268A	ENSP00000363435:T268A	T	+	1	0	ITPR3	33738373	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	9.332000	0.96446	2.138000	0.66242	0.260000	0.18958	ACA		0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		7	41	0	0	0	1	0	7	41				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							100.0	79.0	86.0					21																	11058168		692	1591	2283			85319							g.chr21:11058168A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058168A>T			Somatic								WXS	Illumina GAIIx	Phase_I			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	479	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	179	0	0	0	1	0	4	179				
CFB	629	broad.mit.edu	37	6	31914008	31914008	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:31914008A>G	ENST00000425368.2	+	1	523	c.10A>G	c.(10-12)Aat>Gat	p.N4D	CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	4					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CATGGGGAGCAATCTCAGCCC	0.587																																						ENST00000425368.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(10-12)Aat>Gat		complement factor B							194.0	162.0	174.0					6																	31914008		1510	2709	4219	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31914008A>G	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.10A>G	6.37:g.31914008A>G	ENSP00000416561:p.Asn4Asp		Somatic				CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron	p.N4D	NM_001710.5	NP_001701.2	WXS	Illumina GAIIx	Phase_I	P00751	CFAB_HUMAN			1	523	+			4					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.10A>G	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535675	0.27475	.	.	ENSG00000243649	ENST00000475617;ENST00000425368	T;T	0.80566	2.41;-1.39	4.94	-0.388	0.12459	.	2.570310	0.01561	N	0.020131	T	0.39759	0.1090	N	0.08118	0	0.09310	N	0.999996	B;B;B	0.17667	0.016;0.023;0.002	B;B;B	0.13407	0.004;0.007;0.009	T	0.30416	-0.9979	10	0.37606	T	0.19	7.8174	4.1633	0.10295	0.4552:0.3531:0.1917:0.0	.	4;4;4	B4E1Z1;P00751;P00751-2	.;CFAB_HUMAN;.	D	4	ENSP00000420090:N4D;ENSP00000416561:N4D	ENSP00000416561:N4D	N	+	1	0	CFB	32021987	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	0.152000	0.16302	-0.054000	0.13266	0.383000	0.25322	AAT		0.587	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		5	149	0	0	0	1	0	5	149				
SPICE1	152185	broad.mit.edu	37	3	113166965	113166965	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:113166965C>T	ENST00000295872.4	-	16	2605	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	782					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GAATAGATACCTCAATTGTCC	0.348																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2344-2346)gaG>gaA		spindle and centriole associated protein 1							101.0	105.0	104.0					3																	113166965		2203	4300	6503	SO:0001819	synonymous_variant	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113166965C>T	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2346G>A	3.37:g.113166965C>T			Somatic					p.E782E	NM_144718.3	NP_653319.1	WXS	Illumina GAIIx	Phase_I	Q8N0Z3	SPICE_HUMAN			16	2605	-			782					D3DN72|Q8WUX6	Silent	SNP	ENST00000295872.4	37	c.2346G>A	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	1.343	-0.593592	0.03771	.	.	ENSG00000163611	ENST00000467618	.	.	.	5.76	0.891	0.19224	.	.	.	.	.	T	0.53094	0.1775	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39375	-0.9617	4	.	.	.	-12.1942	6.0162	0.19605	0.0:0.5942:0.1256:0.2802	.	.	.	.	K	116	.	.	R	-	2	0	SPICE1	114649655	0.651000	0.27340	0.792000	0.32020	0.254000	0.26022	-0.194000	0.09559	-0.049000	0.13379	-0.794000	0.03295	AGG		0.348	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		4	225	0	0	0	1	0	4	225				
ARID5B	84159	broad.mit.edu	37	10	63810648	63810648	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:63810648G>A	ENST00000279873.7	+	5	1145	c.735G>A	c.(733-735)gcG>gcA	p.A245A	ARID5B_ENST00000309334.5_Splice_Site_p.A2A	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	245					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGTTTTCAGCGCCAAATCTTA	0.383																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.e5-1		AT rich interactive domain 5B (MRF1-like)							121.0	112.0	115.0					10																	63810648		2203	4300	6503	SO:0001630	splice_region_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63810648G>A	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.734-1G>A	10.37:g.63810648G>A			Somatic				ARID5B_ENST00000309334.5_Splice_Site_p.A2_splice	p.A245_splice	NM_032199.2	NP_115575.1	WXS	Illumina GAIIx	Phase_I	Q14865	ARI5B_HUMAN			5	1145	+	Prostate(12;0.016)|all_hematologic(501;0.215)		245					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Splice_Site	SNP	ENST00000279873.7	37	c.733_splice	CCDS31208.1																																																																																				0.383	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	Silent	4	120	0	0	0	1	0	4	120				
RSRP1	57035	broad.mit.edu	37	1	25572997	25572997	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:25572997C>G	ENST00000243189.7	-	2	734	c.458G>C	c.(457-459)aGa>aCa	p.R153T	RP3-465N24.6_ENST00000607698.1_lincRNA|C1orf63_ENST00000417642.2_Missense_Mutation_p.R146T|C1orf63_ENST00000431849.2_Missense_Mutation_p.R153T	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		153	Arg/Ser-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTCCCTCCATCTGCTGTGCTC	0.582																																						ENST00000243189.7																			0				breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.(457-459)aGa>aCa		chromosome 1 open reading frame 63							138.0	133.0	135.0					1																	25572997		2203	4300	6503	SO:0001583	missense	57035							g.chr1:25572997C>G																												ENST00000243189.7:c.458G>C	1.37:g.25572997C>G	ENSP00000243189:p.Arg153Thr		Somatic				C1orf63_ENST00000431849.2_Missense_Mutation_p.R153T|C1orf63_ENST00000417642.2_Missense_Mutation_p.R146T	p.R153T	NM_020317.3	NP_064713.3	WXS	Illumina GAIIx	Phase_I	Q9BUV0	CA063_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	734	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	153			Arg-rich.		A8K917|Q49AA4|Q5TH71|Q9GZP6	Missense_Mutation	SNP	ENST00000243189.7	37	c.458G>C	CCDS260.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482093	0.63849	.	.	ENSG00000117616	ENST00000243189;ENST00000417642;ENST00000431849;ENST00000511740	T;T;T	0.48522	1.47;1.46;0.81	4.42	3.51	0.40186	.	0.503993	0.16400	N	0.216044	T	0.35038	0.0918	N	0.22421	0.69	0.09310	N	1	P	0.36837	0.571	B	0.39503	0.301	T	0.16719	-1.0393	10	0.44086	T	0.13	-1.1209	9.7966	0.40740	0.0:0.9044:0.0:0.0956	.	153	Q9BUV0	CA063_HUMAN	T	153;146;153;85	ENSP00000243189:R153T;ENSP00000411631:R146T;ENSP00000391510:R153T	ENSP00000243189:R153T	R	-	2	0	C1orf63	25445584	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	0.442000	0.21628	1.209000	0.43321	0.555000	0.69702	AGA		0.582	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2			5	222	0	0	0	1	0	5	222				
ATP2B4	493	broad.mit.edu	37	1	203677096	203677096	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:203677096G>A	ENST00000357681.5	+	10	2544	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	ATP2B4_ENST00000391954.2_Missense_Mutation_p.R474H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R474H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R474H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R462H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	474					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCATGAACCGCATGACTGTG	0.507																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(1420-1422)cGc>cAc		ATPase, Ca++ transporting, plasma membrane 4							175.0	151.0	159.0					1																	203677096		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203677096G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1421G>A	1.37:g.203677096G>A	ENSP00000350310:p.Arg474His		Somatic				ATP2B4_ENST00000367219.3_Missense_Mutation_p.R462H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R474H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R474H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R474H	p.R474H	NM_001684.4	NP_001675.3	WXS	Illumina GAIIx	Phase_I	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		10	2544	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		474					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1421G>A	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210583	0.79240	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97	5.54	5.54	0.83059	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.51477	D	0.000082	D	0.97365	0.9138	M	0.83223	2.63	0.80722	D	1	B;D;B	0.59767	0.355;0.986;0.169	B;P;B	0.51297	0.089;0.665;0.029	D	0.97722	1.0197	10	0.62326	D	0.03	-11.3757	19.0733	0.93148	0.0:0.0:1.0:0.0	.	474;474;474	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	H	474;474;462;474;474	ENSP00000350310:R474H;ENSP00000356187:R474H;ENSP00000356188:R462H;ENSP00000375816:R474H;ENSP00000340930:R474H	ENSP00000340930:R474H	R	+	2	0	ATP2B4	201943719	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.828000	0.99408	2.598000	0.87819	0.462000	0.41574	CGC		0.507	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		4	125	0	0	0	1	0	4	125				
C1QL3	389941	broad.mit.edu	37	10	16562527	16562527	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:16562527G>A	ENST00000298943.3	-	1	1477	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	180	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCCCCTCCGCGCATCAGGACG	0.657																																						ENST00000298943.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(538-540)Cgc>Tgc		complement component 1, q subcomponent-like 3							84.0	84.0	84.0					10																	16562527		2203	4300	6503	SO:0001583	missense	389941					collagen		g.chr10:16562527G>A		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.538C>T	10.37:g.16562527G>A	ENSP00000298943:p.Arg180Cys		Somatic					p.R180C	NM_001010908.1	NP_001010908.1	WXS	Illumina GAIIx	Phase_I	Q5VWW1	C1QL3_HUMAN			1	1477	-			180			C1q.		A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	c.538C>T	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942651	0.53079	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.23147	1.92	4.05	4.05	0.47172	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.194116	0.42420	D	0.000716	T	0.49321	0.1550	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.49670	-0.8915	10	0.42905	T	0.14	.	11.634	0.51192	0.0:0.0:0.8222:0.1778	.	180	Q5VWW1	C1QL3_HUMAN	C	180;157	ENSP00000298943:R180C	ENSP00000298943:R180C	R	-	1	0	C1QL3	16602533	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.246000	0.58740	2.245000	0.73994	0.637000	0.83480	CGC		0.657	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		3	50	0	0	0	1	0	3	50				
KIRREL2	84063	broad.mit.edu	37	19	36351226	36351226	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:36351226C>T	ENST00000360202.5	+	6	899	c.701C>T	c.(700-702)tCg>tTg	p.S234L	KIRREL2_ENST00000592409.1_Missense_Mutation_p.S234L|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S234L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S184L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	234	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.S234L(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTCTGCTTCGCCACACACT	0.602																																						ENST00000360202.5																			2	Substitution - Missense(2)	p.S234L(2)	breast(2)	breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(700-702)tCg>tTg		kin of IRRE like 2 (Drosophila)							76.0	61.0	66.0					19																	36351226		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351226C>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.701C>T	19.37:g.36351226C>T	ENSP00000353331:p.Ser234Leu		Somatic				KIRREL2_ENST00000347900.6_Missense_Mutation_p.S184L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.S214L|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S234L|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S234L	p.S234L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	WXS	Illumina GAIIx	Phase_I	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	899	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		234			Ig-like C2-type 3.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.701C>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213444	0.39102	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.14144	2.53;2.53;2.53	3.86	2.82	0.32997	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.350050	0.20442	N	0.092262	T	0.07458	0.0188	N	0.17082	0.46	0.31779	N	0.631143	B;B;B;B;B	0.31680	0.198;0.165;0.198;0.335;0.335	B;B;B;B;B	0.25884	0.064;0.038;0.064;0.062;0.038	T	0.10590	-1.0623	10	0.72032	D	0.01	-9.0271	7.3113	0.26475	0.7587:0.2413:0.0:0.0	.	234;214;234;184;234	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	L	234;184;234;214	ENSP00000262625:S234L;ENSP00000345067:S184L;ENSP00000353331:S234L	ENSP00000262625:S234L	S	+	2	0	KIRREL2	41043066	1.000000	0.71417	0.995000	0.50966	0.495000	0.33615	4.020000	0.57189	0.674000	0.31244	-0.556000	0.04195	TCG		0.602	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		3	65	0	0	0	1	0	3	65				
DDX46	9879	broad.mit.edu	37	5	134113264	134113264	+	Splice_Site	SNP	A	A	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr5:134113264A>T	ENST00000354283.4	+	6	749	c.614A>T	c.(613-615)gAt>gTt	p.D205V	DDX46_ENST00000452510.2_Splice_Site_p.D205V			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	205	Poly-Asp.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTATTTTAGATGACGAAGAT	0.408																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.e6-1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							114.0	116.0	115.0					5																	134113264		2203	4300	6503	SO:0001630	splice_region_variant	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134113264A>T		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.614-1A>T	5.37:g.134113264A>T			Somatic				DDX46_ENST00000354283.4_Splice_Site_p.D205_splice	p.D205_splice	NM_014829.2	NP_055644.2	WXS	Illumina GAIIx	Phase_I	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	772	+			205			Poly-Asp.		O94894|Q96EI0|Q9Y658	Splice_Site	SNP	ENST00000354283.4	37	c.613_splice	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.762120	0.69763	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.23147	1.92;1.92	5.8	5.8	0.92144	.	0.047804	0.85682	D	0.000000	T	0.30916	0.0780	M	0.62723	1.935	0.80722	D	1	P	0.42518	0.782	B	0.40444	0.329	T	0.04307	-1.0961	9	.	.	.	.	16.1461	0.81569	1.0:0.0:0.0:0.0	.	205	Q7L014	DDX46_HUMAN	V	205	ENSP00000416534:D205V;ENSP00000346236:D205V	.	D	+	2	0	DDX46	134141163	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.090000	0.76916	2.219000	0.72066	0.533000	0.62120	GAT		0.408	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	Missense_Mutation	25	100	0	0	0	1	0	25	100				
ZBTB41	360023	broad.mit.edu	37	1	197169167	197169167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:197169167G>T	ENST00000367405.4	-	1	505	c.437C>A	c.(436-438)tCa>tAa	p.S146*	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	146	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AAAAAATTCTGATGTGTAAAG	0.333																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(436-438)tCa>tAa		zinc finger and BTB domain containing 41							44.0	42.0	43.0					1																	197169167		2203	4300	6503	SO:0001587	stop_gained	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197169167G>T		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.437C>A	1.37:g.197169167G>T	ENSP00000356375:p.Ser146*		Somatic				ZBTB41_ENST00000467322.1_5'UTR	p.S146*	NM_194314.2	NP_919290.2	WXS	Illumina GAIIx	Phase_I	Q5SVQ8	ZBT41_HUMAN			1	505	-			146			BTB.		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Nonsense_Mutation	SNP	ENST00000367405.4	37	c.437C>A	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	36	5.923150	0.97110	.	.	ENSG00000177888	ENST00000367405	.	.	.	4.77	4.77	0.60923	.	0.000000	0.37348	N	0.002124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7988	0.88580	0.0:0.0:1.0:0.0	.	.	.	.	X	146	.	ENSP00000356375:S146X	S	-	2	0	ZBTB41	195435790	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.471000	0.97696	2.162000	0.67917	0.305000	0.20034	TCA		0.333	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		21	66	1	0	4.35082e-09	1	4.71338e-09	21	66				
NAMPT	10135	broad.mit.edu	37	7	105902044	105902044	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:105902044G>T	ENST00000222553.3	-	8	1386	c.1079C>A	c.(1078-1080)aCc>aAc	p.T360N	NAMPT_ENST00000354289.4_Missense_Mutation_p.T360N	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	360					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CTCTTGTAAGGTATTAATATC	0.289																																						ENST00000222553.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1078-1080)aCc>aAc		nicotinamide phosphoribosyltransferase							68.0	71.0	70.0					7																	105902044		2203	4297	6500	SO:0001583	missense	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105902044G>T	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.1079C>A	7.37:g.105902044G>T	ENSP00000222553:p.Thr360Asn		Somatic				NAMPT_ENST00000354289.4_Missense_Mutation_p.T360N	p.T360N	NM_005746.2	NP_005737.1	WXS	Illumina GAIIx	Phase_I	P43490	NAMPT_HUMAN			8	1386	-			360					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	c.1079C>A	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091331	0.76756	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	.	.	.	5.2	5.2	0.72013	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.046594	0.85682	D	0.000000	T	0.71230	0.3315	M	0.67953	2.075	0.80722	D	1	P;P	0.48998	0.61;0.918	B;P	0.51866	0.373;0.682	T	0.68526	-0.5385	9	0.29301	T	0.29	2.2096	19.1015	0.93276	0.0:0.0:1.0:0.0	.	341;360	Q5SYT8;P43490	.;NAMPT_HUMAN	N	360	.	ENSP00000222553:T360N	T	-	2	0	NAMPT	105689280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	2.567000	0.86603	0.650000	0.86243	ACC		0.289	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		43	188	1	0	1.65492e-34	1	1.83097e-34	43	188				
VHL	7428	broad.mit.edu	37	3	10191480	10191480	+	Missense_Mutation	SNP	T	T	A	rs121913346		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:10191480T>A	ENST00000256474.2	+	3	1313	c.473T>A	c.(472-474)cTg>cAg	p.L158Q	VHL_ENST00000345392.2_Missense_Mutation_p.L117Q|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L158Q(6)|p.L158P(5)|p.V155fs*15(2)|p.L158R(1)|p.L158_K159del(1)|p.T157fs*14(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158>?(1)|p.L158fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGTATACTCTGAAAGAGCGA	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		24	Substitution - Missense(12)|Deletion - Frameshift(6)|Deletion - In frame(3)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Complex(1)	p.L158Q(6)|p.L158P(5)|p.V155fs*15(2)|p.L158R(1)|p.L158_K159del(1)|p.T157fs*14(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158>?(1)|p.L158fs*15(1)	kidney(24)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CI024083|CI962364|CM941379	VHL	I|M	rs121913346	c.(472-474)cTg>cAg		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							89.0	82.0	84.0					3																	10191480		2203	4300	6503	SO:0001583	missense	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10191480T>A	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.473T>A	3.37:g.10191480T>A	ENSP00000256474:p.Leu158Gln		Somatic				VHL_ENST00000345392.2_Missense_Mutation_p.L117Q|VHL_ENST00000477538.1_3'UTR	p.L158Q	NM_000551.3	NP_000542.1	WXS	Illumina GAIIx	Phase_I	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	3	1313	+			158		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex).|L -> V (in VHLD; type I).	Interaction with Elongin BC complex.		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.473T>A	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357927	0.61403	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99846	-7.13;-7.13	4.86	3.66	0.41972	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000003	D	0.99697	0.9885	M	0.75777	2.31	0.44373	D	0.997277	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97985	1.0351	10	0.87932	D	0	-5.6982	9.9953	0.41896	0.0:0.0:0.1705:0.8295	.	117;158	P40337-2;P40337	.;VHL_HUMAN	Q	158;117;76	ENSP00000256474:L158Q;ENSP00000344757:L117Q	ENSP00000256474:L158Q	L	+	2	0	VHL	10166480	1.000000	0.71417	0.991000	0.47740	0.618000	0.37518	5.790000	0.69038	0.947000	0.37659	0.533000	0.62120	CTG		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		13	35	0	0	0	1	0	13	35				
IGLV7-46	28775	broad.mit.edu	37	22	22724189	22724189	+	RNA	SNP	C	C	G	rs111551323	byFrequency	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr22:22724189C>G	ENST00000390295.2	+	0	119									immunoglobulin lambda variable 7-46 (gene/pseudogene)																		GGAGCCCTCACTGACTGTGTC	0.512																																						ENST00000390295.2																			0																				46.0	46.0	46.0					22																	22724189		1903	4135	6038			28775							g.chr22:22724189C>G	Z73674		22q11.2	2012-02-08	2008-09-12		ENSG00000211649	ENSG00000211649		"""Immunoglobulins / IGL locus"""	5930	other	immunoglobulin gene			"""immunoglobulin lambda variable 7-46"""				Standard	NG_000002		Approved				OTTHUMG00000151040		22.37:g.22724189C>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	119	+									RNA	SNP	ENST00000390295.2	37																																																																																						0.512	IGLV7-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321099.1	NG_000002		3	56	0	0	0	1	0	3	56				
ELAVL2	1993	broad.mit.edu	37	9	23704955	23704955	+	Missense_Mutation	SNP	G	G	A	rs568766646		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr9:23704955G>A	ENST00000397312.2	-	4	722	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	ELAVL2_ENST00000380110.4_Missense_Mutation_p.R179C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R150C|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R150C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R150C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	150	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTAATAATGCGTCCATATTGT	0.428																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(448-450)Cgc>Tgc		ELAV like neuron-specific RNA binding protein 2							167.0	152.0	157.0					9																	23704955		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23704955G>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.448C>T	9.37:g.23704955G>A	ENSP00000380479:p.Arg150Cys		Somatic				ELAVL2_ENST00000544538.1_Missense_Mutation_p.R150C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R150C|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R150C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R179C	p.R150C	NM_004432.3	NP_004423.2	WXS	Illumina GAIIx	Phase_I	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	4	722	-			150			RRM 2.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.448C>T	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030157	0.93575	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	T;T;T;T;T;T	0.36520	1.25;2.31;2.31;2.31;1.25;2.31	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.996	D;P	0.62955	0.909;0.776	T	0.59139	-0.7510	10	0.87932	D	0	.	19.8638	0.96797	0.0:0.0:1.0:0.0	.	150;150	Q12926;Q12926-2	ELAV2_HUMAN;.	C	150;150;150;150;150;178;15;150	ENSP00000223951:R150C;ENSP00000380479:R150C;ENSP00000440998:R150C;ENSP00000369460:R150C;ENSP00000391757:R15C;ENSP00000412602:R150C	ENSP00000223951:R150C	R	-	1	0	ELAVL2	23694955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.450000	0.97607	2.704000	0.92352	0.655000	0.94253	CGC		0.428	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		8	141	0	0	0	1	0	8	141				
KIF5B	3799	broad.mit.edu	37	10	32320187	32320187	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:32320187C>G	ENST00000302418.4	-	14	1852	c.1395G>C	c.(1393-1395)agG>agC	p.R465S		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	465					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGTCTTGATCCCTTCTGGTAG	0.378			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(1393-1395)agG>agC		kinesin family member 5B							84.0	79.0	81.0					10																	32320187		2203	4300	6503	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32320187C>G	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1395G>C	10.37:g.32320187C>G	ENSP00000307078:p.Arg465Ser		Somatic					p.R465S	NM_004521.2	NP_004512.1	WXS	Illumina GAIIx	Phase_I	P33176	KINH_HUMAN			14	1852	-		Prostate(175;0.0137)	465					A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.1395G>C	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342833	0.41498	.	.	ENSG00000170759	ENST00000302418	D	0.85861	-2.04	6.17	-0.124	0.13523	.	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	L	0.60067	1.865	0.49389	D	0.999789	B	0.29301	0.241	B	0.35607	0.206	T	0.71013	-0.4715	10	0.35671	T	0.21	.	10.2909	0.43594	0.0:0.5305:0.0:0.4695	.	465	P33176	KINH_HUMAN	S	465	ENSP00000307078:R465S	ENSP00000307078:R465S	R	-	3	2	KIF5B	32360193	0.048000	0.20356	0.989000	0.46669	0.999000	0.98932	-0.677000	0.05215	-0.277000	0.09193	0.655000	0.94253	AGG		0.378	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		14	75	0	0	0	1	0	14	75				
ATP8B3	148229	broad.mit.edu	37	19	1787180	1787180	+	Silent	SNP	C	C	A	rs371537574		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:1787180C>A	ENST00000310127.6	-	25	3313	c.3075G>T	c.(3073-3075)ctG>ctT	p.L1025L	ATP8B3_ENST00000525591.1_Silent_p.L988L|ATP8B3_ENST00000539485.1_Silent_p.L1035L	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1025					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTTCATACAGGGGCTGAG	0.602																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3103-3105)ctG>ctT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							48.0	52.0	50.0					19																	1787180		1914	4118	6032	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1787180C>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3075G>T	19.37:g.1787180C>A			Somatic				ATP8B3_ENST00000525591.1_Silent_p.L988L|ATP8B3_ENST00000310127.6_Silent_p.L1025L	p.L1035L			WXS	Illumina GAIIx	Phase_I	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	25	3338	-		Hepatocellular(1079;0.137)	1025					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.3105G>T	CCDS45901.1																																																																																				0.602	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		4	13	1	0	0.00909568	1	0.00965256	4	13				
TRPM1	4308	broad.mit.edu	37	15	31355463	31355463	+	Missense_Mutation	SNP	C	C	T	rs202031791		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr15:31355463C>T	ENST00000256552.6	-	8	970	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	TRPM1_ENST00000542188.1_Missense_Mutation_p.V292M|TRPM1_ENST00000397795.2_Missense_Mutation_p.V253M|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.V253L(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCCTCCACCACGAGACCCACG	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16912	0.0		0.0	False		,,,				2504	0.0					ENST00000542188.1																			1	Substitution - Missense(1)	p.V253L(1)	lung(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(874-876)Gtg>Atg		transient receptor potential cation channel, subfamily M, member 1		C	MET/VAL	1,4051		0,1,2025	86.0	98.0	94.0		757	4.7	1.0	15		94	2,8344		0,2,4171	yes	missense	TRPM1	NM_002420.4	21	0,3,6196	TT,TC,CC		0.024,0.0247,0.0242	possibly-damaging	253/1604	31355463	3,12395	2026	4173	6199	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31355463C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.823G>A	15.37:g.31355463C>T	ENSP00000256552:p.Val275Met		Somatic				TRPM1_ENST00000397795.2_Missense_Mutation_p.V253M|TRPM1_ENST00000256552.6_Missense_Mutation_p.V275M	p.V292M	NM_001252020.1	NP_001238949.1	WXS	Illumina GAIIx	Phase_I	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	7	1187	-		all_lung(180;1.92e-11)	253						Missense_Mutation	SNP	ENST00000256552.6	37	c.874G>A	CCDS58346.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	24.6	4.545353	0.86022	2.47E-4	2.4E-4	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.36340	1.26;1.26;1.26	5.66	4.65	0.58169	.	0.050983	0.85682	D	0.000000	T	0.43433	0.1247	M	0.74389	2.26	0.42809	D	0.99395	P;P	0.51653	0.867;0.947	P;P	0.51055	0.559;0.657	T	0.51076	-0.8751	10	0.87932	D	0	-35.0927	3.6984	0.08374	0.0:0.6612:0.0:0.3388	.	253;253	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	253;292;275;253	ENSP00000380897:V253M;ENSP00000437849:V292M;ENSP00000256552:V275M	ENSP00000256552:V275M	V	-	1	0	TRPM1	29142755	0.999000	0.42202	0.993000	0.49108	0.979000	0.70002	3.445000	0.52921	2.668000	0.90789	0.650000	0.86243	GTG		0.602	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		18	169	0	0	0	1	0	18	169				
PCDHGB1	56104	broad.mit.edu	37	5	140731748	140731748	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr5:140731748G>A	ENST00000523390.1	+	1	1921	c.1921G>A	c.(1921-1923)Gct>Act	p.A641T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTGGTCGCTGTGCGTGA	0.692																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1921-1923)Gct>Act									29.0	34.0	32.0					5																	140731748		2034	4182	6216	SO:0001583	missense	56104							g.chr5:140731748G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1921G>A	5.37:g.140731748G>A	ENSP00000429273:p.Ala641Thr		Somatic				PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A641T	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1921	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.1921G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.455269	0.43634	.	.	ENSG00000254221	ENST00000523390	T	0.57595	0.39	5.22	4.3	0.51218	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.19886	0.0478	N	0.01410	-0.885	0.20821	N	0.999841	P;P	0.42248	0.774;0.509	B;B	0.34242	0.178;0.106	T	0.00647	-1.1628	9	0.40728	T	0.16	.	6.5515	0.22436	0.1527:0.0:0.6942:0.1531	.	641;641	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	T	641	ENSP00000429273:A641T	ENSP00000429273:A641T	A	+	1	0	PCDHGB1	140711932	0.000000	0.05858	0.953000	0.39169	0.952000	0.60782	-0.472000	0.06623	2.611000	0.88343	0.561000	0.74099	GCT		0.692	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		3	58	0	0	0	1	0	3	58				
MGAM	8972	broad.mit.edu	37	7	141756645	141756645	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:141756645C>T	ENST00000549489.2	+	30	3691	c.3596C>T	c.(3595-3597)cCc>cTc	p.P1199L	MGAM_ENST00000475668.2_Missense_Mutation_p.P1199L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1199	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACGTTCCAGCCCCTGCCTGCC	0.512																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3595-3597)cCc>cTc		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						79.0	79.0	79.0					7																	141756645		1979	4156	6135	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141756645C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3596C>T	7.37:g.141756645C>T	ENSP00000447378:p.Pro1199Leu		Somatic				MGAM_ENST00000549489.2_Missense_Mutation_p.P1199L	p.P1199L			WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			30	3650	+	Melanoma(164;0.0272)		1199			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3596C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851860	0.71719	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.84944	-1.92	4.17	4.17	0.49024	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.35772	N	0.003000	D	0.94650	0.8275	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96431	0.9319	10	0.87932	D	0	.	15.2099	0.73214	0.0:1.0:0.0:0.0	.	1199	O43451	MGA_HUMAN	L	1199;1199;1076	ENSP00000447378:P1199L	ENSP00000316431:P1076L	P	+	2	0	MGAM	141403114	1.000000	0.71417	0.923000	0.36655	0.587000	0.36485	7.716000	0.84723	1.857000	0.53885	0.313000	0.20887	CCC		0.512	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			6	63	0	0	0	1	0	6	63				
MBP	4155	broad.mit.edu	37	18	74692366	74692366	+	Missense_Mutation	SNP	C	C	T	rs145141322	byFrequency	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr18:74692366C>T	ENST00000528160.1	-	3	237	c.184G>A	c.(184-186)Gga>Aga	p.G62R	MBP_ENST00000397865.5_3'UTR|MBP_ENST00000359645.3_3'UTR|MBP_ENST00000355994.2_3'UTR|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000397869.3_3'UTR|MBP_ENST00000382582.3_3'UTR|MBP_ENST00000527041.1_Intron|MBP_ENST00000354542.4_3'UTR|MBP_ENST00000397875.3_3'UTR|MBP_ENST00000397866.4_3'UTR|RP11-862L9.3_ENST00000582546.1_RNA|RP11-862L9.3_ENST00000577364.1_RNA|MBP_ENST00000526111.1_3'UTR|RP11-862L9.3_ENST00000580580.1_RNA|RP11-862L9.3_ENST00000583889.1_RNA			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	GACAGGATTCCGGAACCAGGT	0.502													C|||	13	0.00259585	0.0008	0.0101	5008	,	,		18268	0.004		0.0	False		,,,				2504	0.001				NSCLC(17;72 1131 19392)	ENST00000528160.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(184-186)Gga>Aga		myelin basic protein		C	,,,,	2,4404	4.2+/-10.8	0,2,2201	153.0	151.0	152.0		,,,,	-10.0	0.0	18	dbSNP_134	152	5,8595	3.7+/-12.6	0,5,4295	no	utr-3,utr-3,utr-3,utr-3,utr-3	MBP	NM_001025081.1,NM_001025090.1,NM_001025092.1,NM_001025101.1,NM_002385.2	,,,,	0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538	,,,,	,,,,	74692366	7,12999	2203	4300	6503	SO:0001583	missense	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74692366C>T		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000528160.1:c.184G>A	18.37:g.74692366C>T	ENSP00000436830:p.Gly62Arg		Somatic				MBP_ENST00000397875.3_3'UTR|MBP_ENST00000397869.3_3'UTR|MBP_ENST00000397866.4_3'UTR|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000526111.1_3'UTR|MBP_ENST00000397865.5_3'UTR|MBP_ENST00000355994.2_3'UTR|MBP_ENST00000382582.3_3'UTR|MBP_ENST00000354542.4_3'UTR|MBP_ENST00000527041.1_Intron|MBP_ENST00000359645.3_3'UTR	p.G62R			WXS	Illumina GAIIx	Phase_I	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	3	237	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	0					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000528160.1	37	c.184G>A		5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	4	0.006993006993006993	0	0.0	C	5.977	0.364225	0.11296	4.54E-4	5.81E-4	ENSG00000197971	ENST00000528160	.	.	.	5.0	-10.0	0.00425	.	.	.	.	.	T	0.20820	0.0501	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36841	-0.9731	5	0.87932	D	0	.	1.4411	0.02354	0.2476:0.2514:0.3268:0.1743	.	.	.	.	R	62	.	ENSP00000436830:G62R	G	-	1	0	MBP	72821354	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.199000	0.03032	-3.719000	0.00116	-1.008000	0.02478	GGA		0.502	MBP-031	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000390710.1	NM_001025081		12	191	0	0	0	1	0	12	191				
MORC1	27136	broad.mit.edu	37	3	108682370	108682370	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:108682370A>G	ENST00000483760.1	-	26	2670	c.2627T>C	c.(2626-2628)aTa>aCa	p.I876T	MORC1_ENST00000232603.5_Missense_Mutation_p.I897T					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						TTCATTATGTATTCCTCTTGT	0.313																																						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.(2689-2691)aTa>aCa		MORC family CW-type zinc finger 1							138.0	140.0	139.0					3																	108682370		2202	4300	6502	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108682370A>G	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.2627T>C	3.37:g.108682370A>G	ENSP00000417282:p.Ile876Thr		Somatic				MORC1_ENST00000483760.1_Missense_Mutation_p.I876T	p.I897T	NM_014429.3	NP_055244.3	WXS	Illumina GAIIx	Phase_I	Q86VD1	MORC1_HUMAN			27	2772	-			897						Missense_Mutation	SNP	ENST00000483760.1	37	c.2690T>C		.	.	.	.	.	.	.	.	.	.	A	1.361	-0.588813	0.03799	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05996	3.37;3.36	5.04	1.06	0.20224	.	1.678270	0.03996	N	0.295720	T	0.03739	0.0106	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.40831	-0.9542	10	0.39692	T	0.17	-1.9929	3.2839	0.06925	0.6182:0.0:0.1891:0.1927	.	876;897	E7ERX1;Q86VD1	.;MORC1_HUMAN	T	897;876	ENSP00000232603:I897T;ENSP00000417282:I876T	ENSP00000232603:I897T	I	-	2	0	MORC1	110165060	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.138000	0.16016	0.033000	0.15463	0.482000	0.46254	ATA		0.313	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			4	242	0	0	0	1	0	4	242				
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)aggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1570-1572)ggfs		zinc finger protein 318							215.0	222.0	219.0					6																	43323502		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323502delT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1570delA	6.37:g.43323502delT	ENSP00000354964:p.Arg526fs		Somatic				ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	p.R526fs	NM_014345.2	NP_055160.2	WXS	Illumina GAIIx	Phase_I	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1647	-			526					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.1570delA	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		7	598						7	598	---	---	---	---
LINC01609	101927487	broad.mit.edu	37	8	112230679	112230680	+	lincRNA	INS	-	-	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr8:112230679_112230680insT	ENST00000522778.1	-	0	122																											tTTCCTTTCCCttttttttttt	0.485																																						ENST00000522778.1																			0																																																			101927487							g.chr8:112230679_112230680insT																													8.37:g.112230690_112230690dupT			Somatic								WXS	Illumina GAIIx	Phase_I					0	122	-									RNA	INS	ENST00000522778.1	37																																																																																						0.485	RP11-946L20.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000380896.1			3	4						3	4	---	---	---	---
ATM	472	broad.mit.edu	37	11	108173586	108173586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:108173586delG	ENST00000452508.2	+	37	5515	c.5326delG	c.(5326-5328)gaafs	p.E1776fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.E1776fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1776					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTAGTTTTTAGAAGTACCCAG	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448	GRCh37	CM002224	ATM	M		c.(5326-5328)aafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							70.0	76.0	74.0					11																	108173586		2201	4298	6499	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108173586delG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5326delG	11.37:g.108173586delG	ENSP00000388058:p.Glu1776fs	TSP Lung(14;0.12)	Somatic				ATM_ENST00000452508.2_Frame_Shift_Del_p.E1776fs	p.E1776fs	NM_000051.3	NP_000042.3	WXS	Illumina GAIIx	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	36	5711	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1776					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.5326delG	CCDS31669.1																																																																																				0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		7	246						7	246	---	---	---	---
