#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ANO6	196527	broad.mit.edu	37	12	45803201	45803201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:45803201C>T	ENST00000320560.8	+	16	2144	c.1942C>T	c.(1942-1944)Cga>Tga	p.R648*	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Nonsense_Mutation_p.R669*|ANO6_ENST00000425752.2_Nonsense_Mutation_p.R648*|ANO6_ENST00000435642.1_Nonsense_Mutation_p.R648*|ANO6_ENST00000441606.2_Nonsense_Mutation_p.R630*	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	648					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GATAACCCCACGATGGGAACA	0.353																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1942-1944)Cga>Tga		anoctamin 6							118.0	119.0	119.0					12																	45803201		2203	4300	6503	SO:0001587	stop_gained	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45803201C>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1942C>T	12.37:g.45803201C>T	ENSP00000320087:p.Arg648*					ANO6_ENST00000435642.1_Nonsense_Mutation_p.R648*|ANO6_ENST00000441606.2_Nonsense_Mutation_p.R630*|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Nonsense_Mutation_p.R648*|ANO6_ENST00000423947.3_Nonsense_Mutation_p.R669*	p.R648*	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			16	2144	+			648					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Nonsense_Mutation	SNP	ENST00000320560.8	37	c.1942C>T	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	41	8.569374	0.98868	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	.	.	.	4.9	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7773	0.69740	0.145:0.855:0.0:0.0	.	.	.	.	X	648;669;648;648;630	.	ENSP00000320087:R648X	R	+	1	2	ANO6	44089468	0.978000	0.34361	1.000000	0.80357	0.999000	0.98932	2.049000	0.41288	2.652000	0.90054	0.655000	0.94253	CGA		0.353	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		160	332	0	0	0	0.870114	0	160	332				
SLC9A3R2	9351	broad.mit.edu	37	16	2086466	2086466	+	Missense_Mutation	SNP	G	G	A	rs367680143	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:2086466G>A	ENST00000424542.2	+	3	694	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A75T|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A80T|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A186T	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	186	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						CTCACCTGCCGCCCGCTCTGG	0.697													g|||	2	0.000399361	0.0008	0.0	5008	,	,		15189	0.0		0.0	False		,,,				2504	0.001				Ovarian(69;105 1552 17724 23473)	ENST00000424542.2																			0				central_nervous_system(1)|endometrium(1)	2						c.(556-558)Gcc>Acc		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2			THR/ALA,THR/ALA	0,4048		0,0,2024	12.0	16.0	15.0		556,556	3.5	0.8	16		15	1,8329		0,1,4164	no	missense,missense	SLC9A3R2	NM_001130012.1,NM_004785.4	58,58	0,1,6188	AA,AG,GG		0.012,0.0,0.0081	benign,benign	186/338,186/327	2086466	1,12377	2024	4165	6189	SO:0001583	missense	9351				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding	g.chr16:2086466G>A	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.556G>A	16.37:g.2086466G>A	ENSP00000408005:p.Ala186Thr					SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A186T|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A75T|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A80T	p.A186T	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN			3	694	+			186			PDZ 2.		D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	c.556G>A	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	g	10.24	1.295508	0.23564	0.0	1.2E-4	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.29142	1.58;1.58	4.58	3.52	0.40303	PDZ/DHR/GLGF (4);	0.308253	0.34025	N	0.004336	T	0.42337	0.1198	M	0.85859	2.78	0.09310	N	0.999997	P;B;P	0.43633	0.813;0.041;0.683	B;B;B	0.43658	0.426;0.017;0.212	T	0.41627	-0.9498	10	0.59425	D	0.04	-9.3204	12.041	0.53452	0.0:0.0:0.6142:0.3858	.	221;186;186	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	T	186	ENSP00000408005:A186T;ENSP00000402857:A186T	ENSP00000408005:A186T	A	+	1	0	SLC9A3R2	2026467	0.941000	0.31946	0.771000	0.31576	0.005000	0.04900	3.134000	0.50538	0.699000	0.31761	0.306000	0.20318	GCC		0.697	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			20	71	0	0	0	0.608945	0	20	71				
ZDBF2	57683	broad.mit.edu	37	2	207172204	207172204	+	Silent	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:207172204G>A	ENST00000374423.3	+	5	3338	c.2952G>A	c.(2950-2952)aaG>aaA	p.K984K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	984							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAGAGAAAAGCACGCTGAAT	0.398																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2950-2952)aaG>aaA		zinc finger, DBF-type containing 2							76.0	75.0	75.0					2																	207172204		1877	4108	5985	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207172204G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2952G>A	2.37:g.207172204G>A							p.K984K	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	3338	+			984					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.2952G>A	CCDS46501.1																																																																																				0.398	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		77	254	0	0	0	0.870114	0	77	254				
PC	5091	broad.mit.edu	37	11	66637839	66637839	+	Silent	SNP	G	G	A	rs369972881		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:66637839G>A	ENST00000393958.2	-	8	930	c.837C>T	c.(835-837)ccC>ccT	p.P279P	PC_ENST00000393960.1_Silent_p.P279P|PC_ENST00000524491.1_Silent_p.P239P|PC_ENST00000355677.3_Silent_p.P279P|PC_ENST00000393955.2_Silent_p.P279P	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	279	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGTGGGCGGCGGGGGCAATCT	0.637																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(835-837)ccC>ccT		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)	G	,,	0,4400		0,0,2200	53.0	55.0	54.0		837,837,837	-11.6	0.4	11		54	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	PC	NM_000920.3,NM_001040716.1,NM_022172.2	,,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,,	279/1179,279/1179,279/1179	66637839	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66637839G>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.837C>T	11.37:g.66637839G>A						PC_ENST00000393958.2_Silent_p.P279P|PC_ENST00000355677.3_Silent_p.P279P|PC_ENST00000393955.2_Silent_p.P279P|PC_ENST00000524491.1_Silent_p.P239P	p.P279P	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	9	1118	-		Melanoma(852;0.0525)	279			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.837C>T	CCDS8152.1																																																																																				0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		79	435	0	0	0	0.870114	0	79	435				
PCDHGA11	56105	broad.mit.edu	37	5	140800914	140800914	+	Silent	SNP	C	C	T	rs147068995	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:140800914C>T	ENST00000398587.2	+	1	153	c.120C>T	c.(118-120)acC>acT	p.T40T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.T40T|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	40	Cadherin 1. {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)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAAGAGACCGAAAAGGGCT	0.652													c|||	8	0.00159744	0.0	0.0	5008	,	,		15520	0.0079		0.0	False		,,,				2504	0.0					ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(118-120)acC>acT									33.0	39.0	37.0					5																	140800914		1969	4219	6188	SO:0001819	synonymous_variant	0							g.chr5:140800914C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.120C>T	5.37:g.140800914C>T						PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.T40T|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	p.T40T	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	153	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	c.120C>T	CCDS47294.1																																																																																				0.652	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		119	200	0	0	0	0.870114	0	119	200				
XIRP2	129446	broad.mit.edu	37	2	168099977	168099977	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:168099977T>C	ENST00000409195.1	+	9	2164	c.2075T>C	c.(2074-2076)gTg>gCg	p.V692A	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V470A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V692A|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	517					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCAAGACTGTGAGATACATG	0.403																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2074-2076)gTg>gCg		xin actin-binding repeat containing 2							83.0	79.0	80.0					2																	168099977		1932	4139	6071	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099977T>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2075T>C	2.37:g.168099977T>C	ENSP00000386840:p.Val692Ala					XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V692A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V470A|XIRP2_ENST00000420519.1_Intron	p.V692A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2164	+			517					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2075T>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.456474	0.43634	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02395	4.31;4.31;4.32	5.93	5.93	0.95920	.	0.122271	0.56097	D	0.000038	T	0.01870	0.0059	N	0.25890	0.77	0.27210	N	0.959937	P;P;P	0.37731	0.473;0.607;0.607	B;B;B	0.32465	0.069;0.146;0.146	T	0.33085	-0.9882	10	0.02654	T	1	-9.9513	8.5794	0.33619	0.128:0.0:0.1337:0.7383	.	517;517;470	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	692;692;470	ENSP00000386840:V692A;ENSP00000295237:V692A;ENSP00000387255:V470A	ENSP00000295237:V692A	V	+	2	0	XIRP2	167808223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.948000	0.49066	2.271000	0.75665	0.533000	0.62120	GTG		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		70	250	0	0	0	0.870114	0	70	250				
SLC22A11	55867	broad.mit.edu	37	11	64323727	64323727	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:64323727C>T	ENST00000301891.4	+	1	630	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	SLC22A11_ENST00000377585.3_Missense_Mutation_p.R86C|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.R86C	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	86					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CCACCAGTGCCGCCGCTTCCG	0.652											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(256-258)Cgc>Tgc		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						54.0	63.0	60.0					11																	64323727		2193	4285	6478	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64323727C>T	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.256C>T	11.37:g.64323727C>T	ENSP00000301891:p.Arg86Cys		OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1075	SLC22A11_ENST00000377585.3_Missense_Mutation_p.R86C|SLC22A11_ENST00000377581.3_Missense_Mutation_p.R86C|SLC22A11_ENST00000490834.1_3'UTR	p.R86C	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			1	630	+			86					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.256C>T	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714536	0.30413	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.15256	2.44;2.44;2.44	3.97	3.03	0.35002	.	0.303042	0.29932	U	0.010832	T	0.45577	0.1349	M	0.90082	3.085	0.19300	N	0.999976	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.949;0.939;0.939;0.997	T	0.35549	-0.9784	10	0.72032	D	0.01	.	10.042	0.42164	0.0:0.8959:0.0:0.1041	.	86;86;86;86	Q9NSA0-2;A6NCG2;Q9NSA0;B4DJH6	.;.;S22AB_HUMAN;.	C	86	ENSP00000301891:R86C;ENSP00000366809:R86C;ENSP00000366804:R86C	ENSP00000301891:R86C	R	+	1	0	SLC22A11	64080303	0.084000	0.21492	0.005000	0.12908	0.009000	0.06853	2.027000	0.41078	0.978000	0.38470	0.543000	0.68304	CGC		0.652	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		271	696	0	0	0	0.870114	0	271	696				
GAS2L2	246176	broad.mit.edu	37	17	34077157	34077157	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:34077157T>G	ENST00000254466.6	-	2	593	c.566A>C	c.(565-567)gAc>gCc	p.D189A	GAS2L2_ENST00000587565.1_Intron	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	189					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGCGAGGGGTCGGGCGGGGG	0.741																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(565-567)gAc>gCc		growth arrest-specific 2 like 2							20.0	26.0	24.0					17																	34077157		2188	4280	6468	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34077157T>G	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.566A>C	17.37:g.34077157T>G	ENSP00000254466:p.Asp189Ala					GAS2L2_ENST00000587565.1_Intron	p.D189A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	593	-		Ovarian(249;0.17)	189					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.566A>C	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	7.826	0.718860	0.15372	.	.	ENSG00000132139	ENST00000254466	T	0.18016	2.24	4.98	2.77	0.32553	.	1.437920	0.04140	N	0.319452	T	0.17152	0.0412	L	0.51422	1.61	0.26149	N	0.980163	P	0.37781	0.608	B	0.30401	0.115	T	0.28902	-1.0029	10	0.49607	T	0.09	0.0179	8.0796	0.30737	0.0:0.1677:0.0:0.8323	.	189	Q8NHY3	GA2L2_HUMAN	A	189	ENSP00000254466:D189A	ENSP00000254466:D189A	D	-	2	0	GAS2L2	31101270	0.986000	0.35501	0.134000	0.22075	0.011000	0.07611	2.112000	0.41892	0.749000	0.32854	0.402000	0.26972	GAC		0.741	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		23	363	0	0	0	0.796494	0	23	363				
CR2	1380	broad.mit.edu	37	1	207643052	207643052	+	Missense_Mutation	SNP	C	C	T	rs201791442		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:207643052C>T	ENST00000367058.3	+	6	1019	c.830C>T	c.(829-831)cCa>cTa	p.P277L	CR2_ENST00000458541.2_Missense_Mutation_p.P277L|CR2_ENST00000367059.3_Missense_Mutation_p.P277L|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Missense_Mutation_p.P277L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	277	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATTTTTTGCCCATCACCTCCC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		20515	0.0		0.001	False		,,,				2504	0.0					ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(829-831)cCa>cTa		complement component (3d/Epstein Barr virus) receptor 2		C	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	84.0	81.0	82.0		830,830	3.2	0.9	1	dbSNP_132	82	0,8600		0,0,4300	no	missense,missense	CR2	NM_001006658.2,NM_001877.4	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	277/1093,277/1034	207643052	1,13005	2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643052C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.830C>T	1.37:g.207643052C>T	ENSP00000356025:p.Pro277Leu					CR2_ENST00000458541.2_Missense_Mutation_p.P277L|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.P277L|CR2_ENST00000367058.3_Missense_Mutation_p.P277L	p.P277L	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			6	1019	+			277			Sushi 5.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.830C>T	CCDS1478.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.87	2.066612	0.36470	2.27E-4	0.0	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.05	3.16	0.36331	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.67069	0.2854	M	0.70275	2.135	0.37122	D	0.900841	B;B;B	0.28783	0.222;0.211;0.124	B;B;B	0.38803	0.261;0.282;0.149	T	0.67581	-0.5634	9	0.45353	T	0.12	.	7.6844	0.28532	0.0:0.7446:0.1652:0.0902	.	277;277;277	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	L	277	ENSP00000356025:P277L;ENSP00000356024:P277L;ENSP00000356026:P277L;ENSP00000404222:P277L	ENSP00000356024:P277L	P	+	2	0	CR2	205709675	0.000000	0.05858	0.906000	0.35671	0.635000	0.38103	0.040000	0.13905	0.796000	0.33947	0.556000	0.70494	CCA		0.428	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		87	455	0	0	0	0.870114	0	87	455				
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	RNA	SNP	T	T	C	rs79284655	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:32890639T>C	ENST00000330048.5	-	0	3159					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		ACCAGCGGCTTGTAGTACACA	0.627																																						ENST00000330048.5																			0																																																			0							g.chr16:32890639T>C	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890639T>C								NR_003083.2						0	3159	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.627	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	125	0	0	0	0.184627	0	3	125				
LRFN4	78999	broad.mit.edu	37	11	66625342	66625342	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:66625342C>T	ENST00000309602.4	+	1	370	c.127C>T	c.(127-129)Ccg>Tcg	p.P43S	PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.P43S|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	43	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GCTGTTTGTGCCGCCCAACGT	0.687																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(127-129)Ccg>Tcg		leucine rich repeat and fibronectin type III domain containing 4							44.0	38.0	40.0					11																	66625342		2199	4295	6494	SO:0001583	missense	78999					integral to membrane		g.chr11:66625342C>T	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.127C>T	11.37:g.66625342C>T	ENSP00000312535:p.Pro43Ser					PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.P43S|PC_ENST00000393955.2_Intron	p.P43S	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	370	+			43			LRRNT.		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.127C>T	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558192	0.86231	.	.	ENSG00000173621	ENST00000393952;ENST00000309602;ENST00000525479	T;T	0.59083	0.29;0.29	4.41	4.41	0.53225	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.47455	D	0.000226	T	0.72684	0.3491	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75988	-0.3123	10	0.87932	D	0	.	14.8788	0.70516	0.0:1.0:0.0:0.0	.	43;43	E9PLQ1;Q6PJG9	.;LRFN4_HUMAN	S	43	ENSP00000377524:P43S;ENSP00000312535:P43S	ENSP00000312535:P43S	P	+	1	0	LRFN4	66381918	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.591000	0.82666	2.446000	0.82766	0.455000	0.32223	CCG		0.687	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		5	276	0	0	0	0.184627	0	5	276				
MPP6	51678	broad.mit.edu	37	7	24690147	24690147	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr7:24690147G>A	ENST00000222644.5	+	5	717	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	MPP6_ENST00000396475.2_Missense_Mutation_p.R156Q|MPP6_ENST00000409761.1_Missense_Mutation_p.R44Q			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GTAATTGCCCGAATCCTCCAT	0.353																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(466-468)cGa>cAa		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							86.0	90.0	88.0					7																	24690147		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24690147G>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.467G>A	7.37:g.24690147G>A	ENSP00000222644:p.Arg156Gln					MPP6_ENST00000409761.1_Missense_Mutation_p.R44Q|MPP6_ENST00000222644.4_Missense_Mutation_p.R156Q	p.R156Q	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			6	766	+			156			PDZ.		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.467G>A	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	G	35	5.476117	0.96291	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	6.06	6.06	0.98353	PDZ/DHR/GLGF (4);	0.000000	0.47093	D	0.000251	T	0.63165	0.2488	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.66834	-0.5823	10	0.72032	D	0.01	.	18.8014	0.92018	0.0:0.0:1.0:0.0	.	156	Q9NZW5	MPP6_HUMAN	Q	156;156;44;156;156	ENSP00000395859:R156Q;ENSP00000222644:R156Q;ENSP00000386262:R44Q;ENSP00000379737:R156Q;ENSP00000391020:R156Q	ENSP00000222644:R156Q	R	+	2	0	MPP6	24656672	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.130000	0.94437	2.882000	0.98803	0.655000	0.94253	CGA		0.353	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			7	400	0	0	0	0.278610	0	7	400				
DYNC2H1	79659	broad.mit.edu	37	11	103022865	103022865	+	Splice_Site	SNP	A	A	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:103022865A>T	ENST00000375735.2	+	21	3091	c.2947A>T	c.(2947-2949)Att>Ttt	p.I983F	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site_p.I983F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	983	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAACCTTTAGATTTTGCCCTT	0.269																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.e21-1		dynein, cytoplasmic 2, heavy chain 1							35.0	33.0	34.0					11																	103022865		1785	4053	5838	SO:0001630	splice_region_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103022865A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2947-1A>T	11.37:g.103022865A>T						DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site_p.I983_splice	p.I983_splice	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	21	3091	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	983			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Splice_Site	SNP	ENST00000375735.2	37	c.2946_splice	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712951	0.48517	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.30981	1.51;1.51	6.05	6.05	0.98169	.	0.322034	0.24488	U	0.038086	T	0.34861	0.0912	M	0.72118	2.19	0.58432	D	0.999999	B;B	0.20368	0.026;0.044	B;B	0.26416	0.021;0.069	T	0.11842	-1.0571	9	.	.	.	.	11.6037	0.51020	0.9313:0.0:0.0687:0.0	.	983;983	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	983	ENSP00000364887:I983F;ENSP00000381167:I983F	.	I	+	1	0	DYNC2H1	102528075	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.242000	0.51384	2.323000	0.78572	0.519000	0.50382	ATT		0.269	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Missense_Mutation	11	107	0	0	0	0.457914	0	11	107				
WDR36	134430	broad.mit.edu	37	5	110428198	110428198	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:110428198C>T	ENST00000513710.2	+	1	216	c.212C>T	c.(211-213)gCg>gTg	p.A71V	CTC-551A13.2_ENST00000507269.3_RNA|WDR36_ENST00000505303.1_Missense_Mutation_p.A15V|WDR36_ENST00000506538.2_Missense_Mutation_p.A71V			Q8NI36	WDR36_HUMAN	WD repeat domain 36	71					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCGCTTTTTGCGGGGTTCCGG	0.612																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(211-213)gCg>gTg		WD repeat domain 36							35.0	41.0	39.0					5																	110428198		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110428198C>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.212C>T	5.37:g.110428198C>T	ENSP00000424628:p.Ala71Val					WDR36_ENST00000513710.2_Missense_Mutation_p.A71V|WDR36_ENST00000505303.1_Missense_Mutation_p.A15V	p.A71V	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	1	785	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	71					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.212C>T	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.219042	0.58560	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.68479	-0.33;-0.33;0.19	5.98	5.08	0.68730	.	0.217240	0.49305	D	0.000155	T	0.59702	0.2213	L	0.45352	1.415	0.42862	D	0.994119	B	0.26547	0.152	B	0.15484	0.013	T	0.61584	-0.7033	10	0.87932	D	0	-11.1537	16.2611	0.82547	0.0:0.8678:0.1322:0.0	.	71	Q8NI36	WDR36_HUMAN	V	71;71;15	ENSP00000423067:A71V;ENSP00000424628:A71V;ENSP00000422158:A15V	ENSP00000422158:A15V	A	+	2	0	WDR36	110456097	0.989000	0.36119	1.000000	0.80357	0.671000	0.39405	3.096000	0.50243	2.835000	0.97688	0.650000	0.86243	GCG		0.612	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		7	357	0	0	0	0.248553	0	7	357				
DHTKD1	55526	broad.mit.edu	37	10	12142180	12142180	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:12142180A>G	ENST00000263035.4	+	9	1737	c.1675A>G	c.(1675-1677)Aga>Gga	p.R559G		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	559					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTACAGTCCAGAATGGAGAA	0.413																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1675-1677)Aga>Gga		dehydrogenase E1 and transketolase domain containing 1							122.0	133.0	130.0					10																	12142180		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12142180A>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1675A>G	10.37:g.12142180A>G	ENSP00000263035:p.Arg559Gly						p.R559G	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		9	1737	+		Renal(717;0.228)	559					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1675A>G	CCDS7087.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.29|16.29	3.082353|3.082353	0.55861|0.55861	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000448829|ENST00000263035	.|D	.|0.91351	.|-2.83	5.39|5.39	4.24|4.24	0.50183|0.50183	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95579|0.95579	0.8563|0.8563	M|M	0.89353|0.89353	3.025|3.025	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.95530|0.95530	0.8602|0.8602	5|10	.|0.87932	.|D	.|0	-10.1956|-10.1956	12.5082|12.5082	0.55993|0.55993	0.8603:0.1397:0.0:0.0|0.8603:0.1397:0.0:0.0	.|.	.|559	.|Q96HY7	.|DHTK1_HUMAN	R|G	110|559	.|ENSP00000263035:R559G	.|ENSP00000263035:R559G	Q|R	+|+	2|1	0|2	DHTKD1|DHTKD1	12182186|12182186	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.448000|0.448000	0.32197|0.32197	3.179000|3.179000	0.50887|0.50887	0.872000|0.872000	0.35775|0.35775	0.397000|0.397000	0.26171|0.26171	CAG|AGA		0.413	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		259	802	0	0	0	0.870114	0	259	802				
NFE2L2	4780	broad.mit.edu	37	2	178098962	178098962	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:178098962A>G	ENST00000397062.3	-	2	637	c.83T>C	c.(82-84)aTa>aCa	p.I28T	NFE2L2_ENST00000446151.2_Missense_Mutation_p.I12T|NFE2L2_ENST00000423513.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.I12T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	28					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I28T(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCCAAGATCTATATCTTGCCT	0.358			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		1	Substitution - Missense(1)	p.I28T(1)	lung(1)	central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(82-84)aTa>aCa		nuclear factor, erythroid 2-like 2							64.0	57.0	59.0					2																	178098962		1844	4100	5944	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098962A>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.83T>C	2.37:g.178098962A>G	ENSP00000380252:p.Ile28Thr	HNSCC(56;0.16)				NFE2L2_ENST00000423513.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.I12T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.I12T	p.I28T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	637	-			28					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.83T>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.744913	0.69418	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.78	5.78	0.91487	.	0.042355	0.85682	D	0.000000	T	0.61961	0.2389	M	0.86740	2.835	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.922;0.991;0.964;0.922	T	0.69254	-0.5193	10	0.87932	D	0	.	16.098	0.81144	1.0:0.0:0.0:0.0	.	12;12;12;28	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	T	12;28;12;12;12;12;12	ENSP00000380253:I12T;ENSP00000380252:I28T;ENSP00000411575:I12T;ENSP00000391590:I12T;ENSP00000400073:I12T;ENSP00000412191:I12T;ENSP00000410015:I12T	ENSP00000380252:I28T	I	-	2	0	NFE2L2	177807208	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.962000	0.93254	2.210000	0.71456	0.460000	0.39030	ATA		0.358	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		62	207	0	0	0	0.870114	0	62	207				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		19	138	0	0	0	0.624587	0	19	138				
OLFML2A	169611	broad.mit.edu	37	9	127549437	127549437	+	Missense_Mutation	SNP	G	G	A	rs147454300		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr9:127549437G>A	ENST00000373580.3	+	2	274	c.274G>A	c.(274-276)Gca>Aca	p.A92T		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	92					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CTCCTGTACCGCACCTCCCTC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16352	0.0		0.0	False		,,,				2504	0.0					ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(274-276)Gca>Aca		olfactomedin-like 2A		G	THR/ALA	2,4304		0,2,2151	49.0	58.0	55.0		274	5.8	0.5	9	dbSNP_134	55	0,8506		0,0,4253	yes	missense	OLFML2A	NM_182487.2	58	0,2,6404	AA,AG,GG		0.0,0.0464,0.0156	probably-damaging	92/653	127549437	2,12810	2153	4253	6406	SO:0001583	missense	169611							g.chr9:127549437G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.274G>A	9.37:g.127549437G>A	ENSP00000362682:p.Ala92Thr						p.A92T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	274	+			92					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.274G>A	CCDS6857.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.3	4.397941	0.83120	4.64E-4	0.0	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.49432	0.78;0.78	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74844	-0.3526	10	0.87932	D	0	.	18.7171	0.91679	0.0:0.0:1.0:0.0	.	92;92	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	T	92	ENSP00000336425:A92T;ENSP00000362682:A92T	ENSP00000336425:A92T	A	+	1	0	OLFML2A	126589258	1.000000	0.71417	0.524000	0.27887	0.258000	0.26162	9.419000	0.97397	2.758000	0.94735	0.655000	0.94253	GCA		0.617	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		88	189	0	0	0	0.870114	0	88	189				
CROCCP3	114819	broad.mit.edu	37	1	16812982	16812982	+	RNA	SNP	A	A	C			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:16812982A>C	ENST00000263511.4	-	0	1329					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGGTCCTTCTAGTGGAGCACC	0.667																																						ENST00000263511.4																			0																																																			0							g.chr1:16812982A>C	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16812982A>C								NR_023386.1						0	1329	-								Q96PW6	RNA	SNP	ENST00000263511.4	37																																																																																						0.667	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040		4	25	0	0	0	0.150653	0	4	25				
KLHL40	131377	broad.mit.edu	37	3	42728164	42728164	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr3:42728164G>A	ENST00000287777.4	+	1	1154	c.1054G>A	c.(1054-1056)Gtc>Atc	p.V352I		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	352					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CAAGAACCACGTCAGCCTGGT	0.557																																						ENST00000287777.4																			0											c.(1054-1056)Gtc>Atc		kelch-like family member 40							75.0	65.0	68.0					3																	42728164		2203	4300	6503	SO:0001583	missense	131377							g.chr3:42728164G>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1054G>A	3.37:g.42728164G>A	ENSP00000287777:p.Val352Ile						p.V352I	NM_152393.2	NP_689606.2					1	1154	+								Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.1054G>A	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	G	12.64	2.000007	0.35320	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.66815	-0.23	4.95	4.95	0.65309	Kelch-type beta propeller (1);	0.571627	0.19378	N	0.115734	T	0.69133	0.3077	M	0.72894	2.215	0.34487	D	0.704535	P	0.52692	0.955	B	0.42319	0.383	T	0.81890	-0.0725	10	0.66056	D	0.02	.	18.1806	0.89776	0.0:0.0:1.0:0.0	.	352	Q2TBA0	KBTB5_HUMAN	I	352;97	ENSP00000287777:V352I	ENSP00000287777:V352I	V	+	1	0	KBTBD5	42703168	0.801000	0.28930	0.983000	0.44433	0.986000	0.74619	1.091000	0.30915	2.317000	0.78254	0.557000	0.71058	GTC		0.557	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		84	225	0	0	0	0.870114	0	84	225				
ANKRD26	22852	broad.mit.edu	37	10	27324226	27324226	+	Silent	SNP	A	A	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:27324226A>G	ENST00000376087.4	-	24	3318	c.3153T>C	c.(3151-3153)gaT>gaC	p.D1051D	ANKRD26_ENST00000376070.3_Silent_p.D608D|ANKRD26_ENST00000436985.2_Silent_p.D1067D	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1050					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GGTTAGACACATCAAAATTCA	0.343																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(3151-3153)gaT>gaC		ankyrin repeat domain 26							95.0	88.0	90.0					10																	27324226		1857	4096	5953	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27324226A>G	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3153T>C	10.37:g.27324226A>G						ANKRD26_ENST00000436985.2_Silent_p.D1067D|ANKRD26_ENST00000376070.3_Silent_p.D608D	p.D1051D	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			24	3318	-			1050					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.3153T>C	CCDS41499.1																																																																																				0.343	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			128	332	0	0	0	0.870114	0	128	332				
EBF3	253738	broad.mit.edu	37	10	131639152	131639152	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:131639152G>A	ENST00000355311.5	-	14	1589	c.1517C>T	c.(1516-1518)tCg>tTg	p.S506L	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Missense_Mutation_p.S497L			Q9H4W6	COE3_HUMAN	early B-cell factor 3	506	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AAATCCAGGCGAGCCAGGGAC	0.522																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(1489-1491)tCg>tTg		early B-cell factor 3							126.0	121.0	123.0					10																	131639152		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131639152G>A		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1517C>T	10.37:g.131639152G>A	ENSP00000347463:p.Ser506Leu					EBF3_ENST00000355311.5_Missense_Mutation_p.S506L	p.S497L	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	14	1562	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	506			Pro/Ser/Thr-rich.		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1490C>T		.	.	.	.	.	.	.	.	.	.	G	18.05	3.537959	0.65085	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.53423	0.62;0.62	4.89	4.89	0.63831	.	0.053405	0.85682	D	0.000000	T	0.56659	0.2000	M	0.74647	2.275	0.80722	D	1	P	0.39535	0.677	B	0.42738	0.396	T	0.64032	-0.6502	10	0.66056	D	0.02	-8.9619	18.2577	0.90024	0.0:0.0:1.0:0.0	.	497	Q9H4W6-2	.	L	506;497	ENSP00000347463:S506L;ENSP00000357637:S497L	ENSP00000347463:S506L	S	-	2	0	EBF3	131529142	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.607000	0.98328	2.523000	0.85059	0.655000	0.94253	TCG		0.522	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		162	519	0	0	0	0.870114	0	162	519				
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr3:184104344T>G	ENST00000204604.1	+	16	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1996-1998)gTg>gGg		chordin							3.0	4.0	3.0					3																	184104344		1677	3445	5122	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104344T>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1997T>G	3.37:g.184104344T>G	ENSP00000204604:p.Val666Gly					CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|EIF2B5_ENST00000444495.1_Intron	p.V666G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2243	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		666					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1997T>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625293	0.28889	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.14266	2.75;2.53;2.52	4.58	-6.5	0.01884	.	1.936180	0.02212	N	0.063242	T	0.10252	0.0251	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.26845	0.161;0.032;0.025	B;B;B	0.24394	0.053;0.021;0.024	T	0.15492	-1.0435	10	0.17832	T	0.49	0.1754	14.5119	0.67794	0.0:0.1738:0.0:0.8262	.	626;666;666	Q9H2X0-5;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	G	666;666;626;379	ENSP00000204604:V666G;ENSP00000408972:V666G;ENSP00000334036:V626G	ENSP00000204604:V666G	V	+	2	0	CHRD	185587038	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.285000	0.01153	-1.320000	0.02283	-0.479000	0.04858	GTG		0.726	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		10	39	0	0	0	0.667858	0	10	39				
BRF1	2972	broad.mit.edu	37	14	105707720	105707720	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr14:105707720G>T	ENST00000546474.1	-	6	15535	c.576C>A	c.(574-576)caC>caA	p.H192Q	BRF1_ENST00000551787.1_5'UTR|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000379937.2_Missense_Mutation_p.H165Q|BRF1_ENST00000440513.3_Missense_Mutation_p.H77Q|BRF1_ENST00000327359.3_Missense_Mutation_p.H77Q|BRF1_ENST00000392557.4_5'UTR	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	192					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ATTCCAGCAGGTGCGCAAAGC	0.632																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(574-576)caC>caA		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							97.0	79.0	85.0					14																	105707720		2200	4300	6500	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105707720G>T	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.576C>A	14.37:g.105707720G>T	ENSP00000448323:p.His192Gln					BRF1_ENST00000379937.2_Missense_Mutation_p.H165Q|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000440513.3_Missense_Mutation_p.H77Q|BRF1_ENST00000392557.4_5'UTR|BRF1_ENST00000551787.1_5'UTR|BRF1_ENST00000327359.3_Missense_Mutation_p.H77Q	p.H192Q	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	6	15535	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	192					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.576C>A	CCDS10001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.444|6.444	0.449987|0.449987	0.12223|0.12223	.|.	.|.	ENSG00000185024|ENSG00000185024	ENST00000379937;ENST00000546474;ENST00000327359;ENST00000440513|ENST00000546417	.|.	.|.	.|.	4.51|4.51	1.6|1.6	0.23607|0.23607	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);|.	0.051380|.	0.85682|.	D|.	0.000000|.	T|T	0.53449|0.53449	0.1797|0.1797	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	B;B;B|.	0.24186|.	0.067;0.081;0.099|.	B;B;B|.	0.29353|.	0.039;0.061;0.101|.	T|T	0.39375|0.39375	-0.9617|-0.9617	9|5	0.30854|.	T|.	0.27|.	.|.	7.7421|7.7421	0.28848|0.28848	0.2896:0.0:0.7104:0.0|0.2896:0.0:0.7104:0.0	.|.	77;165;192|.	F5H5Z7;Q92994-5;Q92994|.	.;.;TF3B_HUMAN|.	Q|T	165;192;77;77|46	.|.	ENSP00000329029:H77Q|.	H|P	-|-	3|1	2|0	BRF1|BRF1	104778765|104778765	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.131000|0.131000	0.20780|0.20780	0.392000|0.392000	0.20801|0.20801	0.104000|0.104000	0.17725|0.17725	0.591000|0.591000	0.81541|0.81541	CAC|CCT		0.632	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		58	231	1	0	7.50695e-29	0.870114	8.07814e-29	58	231				
PXDN	7837	broad.mit.edu	37	2	1668825	1668825	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:1668825G>A	ENST00000252804.4	-	11	1363	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	438	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTCCTGAGGCGTCACAGTGAA	0.532																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(1312-1314)aCg>aTg		peroxidasin homolog (Drosophila)							44.0	46.0	45.0					2																	1668825		1936	4145	6081	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1668825G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1313C>T	2.37:g.1668825G>A	ENSP00000252804:p.Thr438Met						p.T438M	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	11	1363	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	438			Ig-like C2-type 3.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1313C>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.879|9.879	1.201071|1.201071	0.22121|0.22121	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.67865	.|-0.29	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.360555	.|0.30177	.|N	.|0.010231	T|T	0.58278|0.58278	0.2111|0.2111	L|L	0.54323|0.54323	1.7|1.7	0.40173|0.40173	D|D	0.977201|0.977201	.|P;P	.|0.40681	.|0.727;0.64	.|B;B	.|0.33254	.|0.091;0.16	T|T	0.63844|0.63844	-0.6545|-0.6545	5|10	.|0.46703	.|T	.|0.11	-31.2675|-31.2675	12.7932|12.7932	0.57545|0.57545	0.0747:0.0:0.9253:0.0|0.0747:0.0:0.9253:0.0	.|.	.|438;438	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	C|M	434|438	.|ENSP00000252804:T438M	.|ENSP00000252804:T438M	R|T	-|-	1|2	0|0	PXDN|PXDN	1647832|1647832	0.995000|0.995000	0.38212|0.38212	0.915000|0.915000	0.36163|0.36163	0.106000|0.106000	0.19336|0.19336	2.285000|2.285000	0.43487|0.43487	2.604000|2.604000	0.88044|0.88044	0.563000|0.563000	0.77884|0.77884	CGC|ACG		0.532	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		22	69	0	0	0	0.608945	0	22	69				
PPP2R5A	5525	broad.mit.edu	37	1	212459533	212459533	+	Silent	SNP	A	A	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:212459533A>G	ENST00000261461.2	+	1	655	c.81A>G	c.(79-81)aaA>aaG	p.K27K		NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	27					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TCACCCGGAAATCGGTCCGCA	0.701																																						ENST00000261461.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16						c.(79-81)aaA>aaG		protein phosphatase 2, regulatory subunit B', alpha							13.0	13.0	13.0					1																	212459533		2187	4288	6475	SO:0001819	synonymous_variant	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212459533A>G	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.81A>G	1.37:g.212459533A>G							p.K27K	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	1	655	+			27					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Silent	SNP	ENST00000261461.2	37	c.81A>G	CCDS1503.1																																																																																				0.701	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		48	80	0	0	0	0.870114	0	48	80				
SPTB	6710	broad.mit.edu	37	14	65266502	65266502	+	Missense_Mutation	SNP	C	C	T	rs149837193	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr14:65266502C>T	ENST00000389721.5	-	8	1059	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	SPTB_ENST00000542895.1_Missense_Mutation_p.A343T|SPTB_ENST00000556626.1_Missense_Mutation_p.A343T|SPTB_ENST00000389720.3_Missense_Mutation_p.A343T|SPTB_ENST00000389722.3_Missense_Mutation_p.A343T	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	343					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGCTGAAGGCCTGCAGCTGC	0.617																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(1027-1029)Gcc>Acc		spectrin, beta, erythrocytic		C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	68.0	60.0	63.0		1027,1027	3.3	1.0	14	dbSNP_134	63	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	SPTB	NM_000347.5,NM_001024858.2	58,58	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	benign,benign	343/2138,343/2329	65266502	6,13000	2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65266502C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1027G>A	14.37:g.65266502C>T	ENSP00000374371:p.Ala343Thr					SPTB_ENST00000389720.3_Missense_Mutation_p.A343T|SPTB_ENST00000542895.1_Missense_Mutation_p.A343T|SPTB_ENST00000389721.5_Missense_Mutation_p.A343T|SPTB_ENST00000556626.1_Missense_Mutation_p.A343T	p.A343T	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	8	1080	-		all_lung(585;4.15e-09)	343					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.1027G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281123	0.59758	2.27E-4	5.81E-4	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	5.31	3.31	0.37934	.	0.111803	0.64402	D	0.000009	T	0.58736	0.2143	L	0.46157	1.445	0.54753	D	0.999982	B;B	0.25169	0.058;0.119	B;B	0.33121	0.072;0.158	T	0.61431	-0.7064	10	0.56958	D	0.05	.	7.688	0.28550	0.2155:0.6935:0.0:0.091	.	343;347	P11277;Q59FP5	SPTB1_HUMAN;.	T	347;343;343;343;343;343	ENSP00000374372:A343T;ENSP00000451752:A343T;ENSP00000374371:A343T;ENSP00000443882:A343T;ENSP00000374370:A343T	ENSP00000374370:A343T	A	-	1	0	SPTB	64336255	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.041000	0.41213	2.480000	0.83734	0.563000	0.77884	GCC		0.617	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			105	299	0	0	0	0.870114	0	105	299				
B3GAT1	27087	broad.mit.edu	37	11	134254062	134254062	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:134254062G>A	ENST00000524765.1	-	3	4677	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R45C|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R58C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R45C			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	45					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGCGTTTCGCGTCGGGGGTCA	0.711																																						ENST00000524765.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(133-135)Cgc>Tgc		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							23.0	18.0	19.0					11																	134254062		2143	4197	6340	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134254062G>A	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.133C>T	11.37:g.134254062G>A	ENSP00000433847:p.Arg45Cys					B3GAT1_ENST00000537389.1_Missense_Mutation_p.R58C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R45C|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R45C|B3GAT1_ENST00000531510.1_5'UTR	p.R45C			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	3	4677	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	45					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.133C>T	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951825	0.34471	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.64991	-0.12;-0.12;-0.12;-0.13	4.7	4.7	0.59300	.	0.349373	0.29668	N	0.011515	T	0.57975	0.2090	L	0.44542	1.39	0.20489	N	0.999899	D;P	0.60575	0.988;0.942	P;B	0.46049	0.502;0.306	T	0.57625	-0.7779	10	0.62326	D	0.03	-5.4665	12.6982	0.57016	0.0:0.0:0.8351:0.1649	.	58;45	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	C	45;45;45;58	ENSP00000376359:R45C;ENSP00000307875:R45C;ENSP00000433847:R45C;ENSP00000445983:R58C	ENSP00000307875:R45C	R	-	1	0	B3GAT1	133759272	1.000000	0.71417	0.396000	0.26296	0.127000	0.20565	3.867000	0.56047	2.157000	0.67596	0.491000	0.48974	CGC		0.711	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		51	135	0	0	0	0.870114	0	51	135				
SNAP25	6616	broad.mit.edu	37	20	10273541	10273541	+	Intron	SNP	C	C	T	rs146976467		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr20:10273541C>T	ENST00000254976.2	+	5	374				SNAP25_ENST00000304886.2_Missense_Mutation_p.R59C|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)	p.R59C(1)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	ACAACTCGATCGTGTCGAAGA	0.403																																						ENST00000304886.2																			1	Substitution - Missense(1)	p.R59C(1)	skin(1)	endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18						c.(175-177)Cgt>Tgt		synaptosomal-associated protein, 25kDa	Botulinum Toxin Type A(DB00083)						107.0	101.0	103.0					20																	10273541		2203	4300	6503	SO:0001627	intron_variant	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10273541C>T		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.164-268C>T	20.37:g.10273541C>T						SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000254976.2_Intron	p.R59C	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN			5	383	+			59			Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	ENST00000254976.2	37	c.175C>T	CCDS13110.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555852	0.65425	.	.	ENSG00000132639	ENST00000304886	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	D	0.84224	0.5425	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84394	0.0556	7	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	59	P60880-2	.	C	59	.	ENSP00000307341:R59C	R	+	1	0	SNAP25	10221541	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.937000	0.99478	0.650000	0.86243	CGT		0.403	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		94	344	0	0	0	0.870114	0	94	344				
ZFYVE19	84936	broad.mit.edu	37	15	41101367	41101367	+	Silent	SNP	C	C	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:41101367C>T	ENST00000355341.4	+	2	831	c.330C>T	c.(328-330)ttC>ttT	p.F110F	DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000336455.5_Silent_p.F100F|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000299173.10_Silent_p.F110F|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000570108.1_Silent_p.F87F	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	110					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCTAAGCTTCAGTGCAGCAG	0.562																																						ENST00000355341.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(328-330)ttC>ttT		zinc finger, FYVE domain containing 19							64.0	70.0	68.0					15																	41101367		2022	4184	6206	SO:0001819	synonymous_variant	84936						zinc ion binding	g.chr15:41101367C>T	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.330C>T	15.37:g.41101367C>T						ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000336455.5_Silent_p.F100F|ZFYVE19_ENST00000299173.10_Silent_p.F110F|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000570108.1_Silent_p.F87F	p.F110F	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	2	831	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	110					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	c.330C>T	CCDS42025.1																																																																																				0.562	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		9	476	0	0	0	0.307466	0	9	476				
MYEOV	26579	broad.mit.edu	37	11	69063185	69063185	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:69063185G>A	ENST00000308946.3	+	3	718	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	MYEOV_ENST00000535407.1_Missense_Mutation_p.V32M|MYEOV_ENST00000441339.2_Missense_Mutation_p.V90M	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	90										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GCGTGTTGCGGTGAGAGGAGC	0.632																																						ENST00000535407.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(94-96)Gtg>Atg		myeloma overexpressed							80.0	82.0	81.0					11																	69063185		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69063185G>A	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.268G>A	11.37:g.69063185G>A	ENSP00000308330:p.Val90Met					MYEOV_ENST00000308946.3_Missense_Mutation_p.V90M|MYEOV_ENST00000441339.2_Missense_Mutation_p.V90M	p.V32M			Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	737	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		90					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.94G>A	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	G	8.525	0.869769	0.17322	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.25085	1.82;1.82;1.82	1.25	0.0394	0.14204	.	.	.	.	.	T	0.11196	0.0273	N	0.08118	0	0.09310	N	1	B	0.20052	0.041	B	0.16722	0.016	T	0.26538	-1.0100	9	0.87932	D	0	.	3.0102	0.06042	0.6752:0.0:0.3248:0.0	.	90	Q96EZ4	MYEOV_HUMAN	M	90;90;32	ENSP00000412482:V90M;ENSP00000308330:V90M;ENSP00000438100:V32M	ENSP00000308330:V90M	V	+	1	0	MYEOV	68819761	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.366000	0.07563	0.001000	0.14605	-0.339000	0.08088	GTG		0.632	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			83	578	0	0	0	0.870114	0	83	578				
TAF5	6877	broad.mit.edu	37	10	105128042	105128042	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:105128042C>A	ENST00000369839.3	+	1	319	c.296C>A	c.(295-297)gCc>gAc	p.A99D	TAF5_ENST00000351396.4_Missense_Mutation_p.A99D	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	99	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTCTACTGGCCGTGCTGCAG	0.756																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(295-297)gCc>gAc		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							6.0	7.0	7.0					10																	105128042		1953	3976	5929	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105128042C>A	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.296C>A	10.37:g.105128042C>A	ENSP00000358854:p.Ala99Asp					TAF5_ENST00000351396.4_Missense_Mutation_p.A99D	p.A99D	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	319	+		Colorectal(252;0.0747)|Breast(234;0.128)	99			LisH.		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.296C>A	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119267	0.94385	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.61742	0.47;0.08	4.25	4.25	0.50352	LisH dimerisation motif (2);	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.99	T	0.71941	-0.4440	10	0.72032	D	0.01	-8.6369	17.1956	0.86891	0.0:1.0:0.0:0.0	.	99;99	Q15542-2;Q15542	.;TAF5_HUMAN	D	99	ENSP00000358854:A99D;ENSP00000311024:A99D	ENSP00000311024:A99D	A	+	2	0	TAF5	105118032	1.000000	0.71417	0.992000	0.48379	0.903000	0.53119	6.469000	0.73555	2.354000	0.79902	0.561000	0.74099	GCC		0.756	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			3	52	1	0	6.4e-05	0.115264	6.66947e-05	3	52				
GPT2	84706	broad.mit.edu	37	16	46956249	46956249	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:46956249C>A	ENST00000340124.4	+	9	1245	c.1133C>A	c.(1132-1134)cCa>cAa	p.P378Q	GPT2_ENST00000440783.2_Missense_Mutation_p.P278Q	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	378					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CTGTGCCCCCCAGTGTCTGGG	0.607																																						ENST00000440783.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23						c.(832-834)cCa>cAa		glutamic pyruvate transaminase (alanine aminotransferase) 2	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						87.0	75.0	79.0					16																	46956249		2203	4300	6503	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46956249C>A		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1133C>A	16.37:g.46956249C>A	ENSP00000345282:p.Pro378Gln					GPT2_ENST00000340124.4_Missense_Mutation_p.P378Q	p.P278Q	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN			9	1498	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	378					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.833C>A	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225738	0.79576	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	D;T	0.91351	-2.83;1.79	5.07	5.07	0.68467	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	M	0.92923	3.36	0.80722	D	1	D	0.63046	0.992	D	0.64410	0.925	D	0.96651	0.9481	10	0.54805	T	0.06	.	18.7928	0.91982	0.0:1.0:0.0:0.0	.	378	Q8TD30	ALAT2_HUMAN	Q	378;278	ENSP00000345282:P378Q;ENSP00000413804:P278Q	ENSP00000345282:P378Q	P	+	2	0	GPT2	45513750	1.000000	0.71417	0.889000	0.34880	0.490000	0.33462	7.687000	0.84139	2.525000	0.85131	0.462000	0.41574	CCA		0.607	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			160	491	1	0	3.12418e-63	0.870114	3.47521e-63	160	491				
ARNT2	9915	broad.mit.edu	37	15	80800573	80800573	+	Silent	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:80800573G>A	ENST00000303329.4	+	6	864	c.699G>A	c.(697-699)tcG>tcA	p.S233S	ARNT2_ENST00000533983.1_Silent_p.S222S|ARNT2_ENST00000527771.1_Silent_p.S222S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	233					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCATGGGCTCGCGGCGGTCTT	0.537																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(664-666)tcG>tcA		aryl-hydrocarbon receptor nuclear translocator 2							109.0	94.0	99.0					15																	80800573		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80800573G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.699G>A	15.37:g.80800573G>A						ARNT2_ENST00000303329.4_Silent_p.S233S|ARNT2_ENST00000527771.1_Silent_p.S222S	p.S222S			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		7	1005	+			233					B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.666G>A	CCDS32307.1																																																																																				0.537	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			79	320	0	0	0	0.870114	0	79	320				
DYRK1B	9149	broad.mit.edu	37	19	40316442	40316442	+	Silent	SNP	T	T	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:40316442T>G	ENST00000593685.1	-	11	2271	c.1803A>C	c.(1801-1803)ccA>ccC	p.P601P	DYRK1B_ENST00000597639.1_Silent_p.P573P|DYRK1B_ENST00000323039.5_Silent_p.P601P|DYRK1B_ENST00000430012.2_Silent_p.P561P|DYRK1B_ENST00000348817.3_Silent_p.P573P			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	601					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCGGGAGGGGTGGACGACCTC	0.716																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1801-1803)ccA>ccC		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							7.0	9.0	8.0					19																	40316442		2165	4233	6398	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316442T>G	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1803A>C	19.37:g.40316442T>G						DYRK1B_ENST00000597639.1_Silent_p.P573P|DYRK1B_ENST00000430012.2_Silent_p.P561P|DYRK1B_ENST00000348817.3_Silent_p.P573P|DYRK1B_ENST00000323039.5_Silent_p.P601P	p.P601P			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2271	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		601					O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.1803A>C	CCDS12543.1																																																																																				0.716	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		8	78	0	0	0	0.592651	0	8	78				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		67	156	0	0	0	0.870114	0	67	156				
SUZ12	23512	broad.mit.edu	37	17	30303572	30303572	+	Nonsense_Mutation	SNP	C	C	T	rs372162318		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:30303572C>T	ENST00000322652.5	+	8	1085	c.856C>T	c.(856-858)Cga>Tga	p.R286*	SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R263*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	286					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R286*(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CAGAAGAAAACGAAATCGTGA	0.343			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	1	Substitution - Nonsense(1)	p.R286*(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(856-858)Cga>Tga		SUZ12 polycomb repressive complex 2 subunit							82.0	80.0	81.0					17																	30303572		2203	4300	6503	SO:0001587	stop_gained	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30303572C>T	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.856C>T	17.37:g.30303572C>T	ENSP00000316578:p.Arg286*					SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R263*	p.R286*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN			8	1085	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	286					Q96BD9	Nonsense_Mutation	SNP	ENST00000322652.5	37	c.856C>T	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	C	38	6.852282	0.97885	.	.	ENSG00000178691	ENST00000322652	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.208	13.7539	0.62923	0.1543:0.8457:0.0:0.0	.	.	.	.	X	286	.	ENSP00000316578:R286X	R	+	1	2	SUZ12	27327685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.451000	0.44952	2.257000	0.74773	0.603000	0.83216	CGA		0.343	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		5	186	0	0	0	0.217242	0	5	186				
C2orf71	388939	broad.mit.edu	37	2	29295775	29295775	+	Silent	SNP	C	C	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:29295775C>T	ENST00000331664.5	-	1	1352	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	451					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGTGCTTGTCCCCAGCTTCA	0.542																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1351-1353)ggG>ggA		chromosome 2 open reading frame 71							87.0	92.0	90.0					2																	29295775		1969	4154	6123	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295775C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1353G>A	2.37:g.29295775C>T							p.G451G	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1352	-			451						Silent	SNP	ENST00000331664.5	37	c.1353G>A	CCDS42669.1																																																																																				0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		127	389	0	0	0	0.870114	0	127	389				
AACSP1	729522	broad.mit.edu	37	5	178194331	178194331	+	RNA	SNP	C	C	T	rs112953089		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:178194331C>T	ENST00000503486.2	-	0	1306					NR_024035.1				acetoacetyl-CoA synthetase pseudogene 1																		TGCCACTGAGCGTGTACTGCG	0.527																																						ENST00000503486.2																			0																																																			0							g.chr5:178194331C>T			5q35	2010-09-29	2010-09-29	2010-09-29	ENSG00000250420	ENSG00000250420			18226	pseudogene	pseudogene			"""acetoacetyl-CoA synthetase-like"""	AACSL			Standard	NR_024035		Approved		uc011dgl.2		OTTHUMG00000163584		5.37:g.178194331C>T								NR_024035.1						0	1306	-									RNA	SNP	ENST00000503486.2	37																																																																																						0.527	AACSP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374392.2	NR_024035		23	70	0	0	0	0.624587	0	23	70				
KRT39	390792	broad.mit.edu	37	17	39122914	39122914	+	Silent	SNP	A	A	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:39122914A>G	ENST00000355612.2	-	1	230	c.195T>C	c.(193-195)ttT>ttC	p.F65F	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	65	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GCTTGCGACAAAAGCGAGGAG	0.522																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(193-195)ttT>ttC		keratin 39							191.0	194.0	193.0					17																	39122914		2203	4296	6499	SO:0001819	synonymous_variant	390792					intermediate filament	structural molecule activity	g.chr17:39122914A>G	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.195T>C	17.37:g.39122914A>G						AC004231.2_ENST00000418393.1_RNA	p.F65F	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			1	230	-		Breast(137;0.00043)|Ovarian(249;0.15)	65			Head.		B2RXK6|Q6IFU6	Silent	SNP	ENST00000355612.2	37	c.195T>C	CCDS11382.1																																																																																				0.522	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		214	753	0	0	0	0.870114	0	214	753				
CACNA1C	775	broad.mit.edu	37	12	2702421	2702421	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:2702421G>A	ENST00000347598.4	+	19	2573	c.2573G>A	c.(2572-2574)cGc>cAc	p.R858H	CACNA1C_ENST00000399603.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R883H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R858H|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R858H	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	858					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTCGGCCCTCGCCCACGACCA	0.512																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(2572-2574)cGc>cAc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						60.0	61.0	60.0					12																	2702421		1991	4172	6163	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2702421G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2573G>A	12.37:g.2702421G>A	ENSP00000266376:p.Arg858His					CACNA1C_ENST00000402845.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R883H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R858H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R858H	p.R858H	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	19	2838	+			858					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.2573G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701705	0.88924	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96802	-4.08;-4.07;-4.03;-4.06;-4.05;-4.06;-4.08;-3.97;-4.0;-4.06;-3.99;-3.99;-4.06;-4.11;-3.97;-3.9;-4.12;-4.08;-4.07;-4.09;-4.0;-4.08;-4.13	4.86	4.86	0.63082	.	0.050825	0.85682	D	0.000000	D	0.98147	0.9388	M	0.83852	2.665	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.862;1.0;0.961;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;B;D;P;D;D;D;D;D;D	0.91635	0.997;0.985;0.973;0.984;0.997;0.998;0.997;0.999;0.988;0.975;0.998;0.996;0.966;0.999;0.991;0.997;0.993;0.301;0.998;0.535;0.993;0.998;0.998;0.997;0.989;0.997	D	0.98708	1.0703	10	0.59425	D	0.04	.	18.1721	0.89749	0.0:0.0:1.0:0.0	.	858;855;858;858;858;858;858;858;858;858;858;858;829;858;858;858;858;858;858;858;858;858;858;858;858;858	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	883;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;858;699	ENSP00000336982:R883H;ENSP00000382563:R858H;ENSP00000437936:R858H;ENSP00000382552:R858H;ENSP00000382547:R858H;ENSP00000382506:R858H;ENSP00000382530:R858H;ENSP00000382546:R858H;ENSP00000382500:R858H;ENSP00000382549:R858H;ENSP00000266376:R858H;ENSP00000382515:R858H;ENSP00000382510:R858H;ENSP00000341092:R858H;ENSP00000382537:R858H;ENSP00000329877:R858H;ENSP00000382557:R858H;ENSP00000385724:R858H;ENSP00000382512:R858H;ENSP00000382542:R858H;ENSP00000382526:R858H;ENSP00000385896:R858H;ENSP00000382504:R858H	ENSP00000323129:R699H	R	+	2	0	CACNA1C	2572682	1.000000	0.71417	0.982000	0.44146	0.624000	0.37722	9.657000	0.98554	2.541000	0.85698	0.462000	0.41574	CGC		0.512	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		40	181	0	0	0	0.819951	0	40	181				
SLC35G3	146861	broad.mit.edu	37	17	33520323	33520323	+	Missense_Mutation	SNP	C	C	T	rs369787605		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:33520323C>T	ENST00000297307.5	-	1	1089	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	335						integral component of membrane (GO:0016021)		p.R335K(4)									CTCCTCCACCCTCCCTGTCCT	0.557																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.R335K(4)	lung(2)|urinary_tract(1)|prostate(1)								c.(1003-1005)aGg>aAg		solute carrier family 35, member G3							57.0	57.0	57.0					17																	33520323		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520323C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.1004G>A	17.37:g.33520323C>T	ENSP00000297307:p.Arg335Lys						p.R335K	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1089	-			335					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.1004G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.031780	0.00410	.	.	ENSG00000164729	ENST00000297307	T	0.24723	1.84	.	.	.	.	1.165660	0.06508	N	0.737480	T	0.10723	0.0262	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	8	0.07990	T	0.79	0.0	.	.	.	.	335	Q8N808	S35G3_HUMAN	K	335	ENSP00000297307:R335K	ENSP00000297307:R335K	R	-	2	0	SLC35G3	30544436	0.002000	0.14202	0.046000	0.18839	0.046000	0.14306	-1.876000	0.01633	-2.037000	0.00920	-2.088000	0.00374	AGG		0.557	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	296	0	0	0	0.184627	0	5	296				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		6	457	0	0	0	0.217242	0	6	457				
SLC35A2	7355	broad.mit.edu	37	X	48761886	48761886	+	Intron	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrX:48761886G>A	ENST00000247138.5	-	4	1167				SLC35A2_ENST00000445167.2_Missense_Mutation_p.S237F|SLC35A2_ENST00000413561.2_3'UTR|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376515.3_Missense_Mutation_p.S213F|SLC35A2_ENST00000452555.2_3'UTR|SLC35A2_ENST00000376521.1_3'UTR	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2						galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						TGGGAGAAAAGACCATCTCCC	0.642																																						ENST00000445167.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						c.(709-711)tCt>tTt		solute carrier family 35 (UDP-galactose transporter), member A2							18.0	16.0	17.0					X																	48761886		2198	4295	6493	SO:0001627	intron_variant	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48761886G>A	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.1163+136C>T	X.37:g.48761886G>A						SLC35A2_ENST00000413561.2_3'UTR|SLC35A2_ENST00000452555.2_3'UTR|SLC35A2_ENST00000247138.5_Intron|SLC35A2_ENST00000376521.1_3'UTR|SLC35A2_ENST00000376515.3_Missense_Mutation_p.S213F|SLC35A2_ENST00000376529.3_Intron	p.S237F	NM_001032289.1	NP_001027460.1	P78381	S35A2_HUMAN			4	729	-			36					A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	37	c.710C>T	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	G	0.577	-0.838599	0.02692	.	.	ENSG00000102100	ENST00000445167;ENST00000376515	.	.	.	3.75	-0.97	0.10306	.	.	.	.	.	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22277	-1.0221	8	0.87932	D	0	.	0.4415	0.00487	0.3116:0.1803:0.3211:0.187	.	237	P78381-3	.	F	237;213	.	ENSP00000365698:S213F	S	-	2	0	SLC35A2	48646830	0.087000	0.21565	0.009000	0.14445	0.122000	0.20287	-0.199000	0.09491	-0.367000	0.08052	0.600000	0.82982	TCT		0.642	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		27	19	0	0	0	0.706142	0	27	19				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		6	321	0	0	0	0.278610	0	6	321				
MMP16	4325	broad.mit.edu	37	8	89086968	89086968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr8:89086968G>A	ENST00000286614.6	-	7	1368	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	363					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CAAAACCACTGGTCCTGCAAA	0.498																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1087-1089)Cag>Tag		matrix metallopeptidase 16 (membrane-inserted)							149.0	142.0	144.0					8																	89086968		2203	4300	6503	SO:0001587	stop_gained	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89086968G>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1087C>T	8.37:g.89086968G>A	ENSP00000286614:p.Gln363*					MMP16_ENST00000544227.1_5'UTR	p.Q363*	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			7	1368	-			363			Hemopexin-like 1.		B2RAN7|Q14824|Q52H48	Nonsense_Mutation	SNP	ENST00000286614.6	37	c.1087C>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	39	7.612203	0.98390	.	.	ENSG00000156103	ENST00000286614	.	.	.	4.88	4.88	0.63580	.	0.222920	0.47455	D	0.000228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	18.4198	0.90586	0.0:0.0:1.0:0.0	.	.	.	.	X	363	.	ENSP00000286614:Q363X	Q	-	1	0	MMP16	89156084	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.914000	0.87478	2.397000	0.81536	0.650000	0.86243	CAG		0.498	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		99	329	0	0	0	0.870114	0	99	329				
FZD10	11211	broad.mit.edu	37	12	130647817	130647817	+	Silent	SNP	C	C	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:130647817C>T	ENST00000229030.4	+	1	814	c.330C>T	c.(328-330)tgC>tgT	p.C110C	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Nonsense_Mutation_p.R78*			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	110	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGGTCATGTGCGAGCAGGCCC	0.642																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(232-234)Cga>Tga		frizzled family receptor 10							73.0	71.0	72.0					12																	130647817		2203	4300	6503	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647817C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.330C>T	12.37:g.130647817C>T						FZD10_ENST00000229030.4_Silent_p.C110C	p.R78*	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	814	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0			FZ.			Nonsense_Mutation	SNP	ENST00000229030.4	37	c.232C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	42	9.333676	0.99140	.	.	ENSG00000111432	ENST00000539839	.	.	.	4.81	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.0871	0.48093	0.0:0.8429:0.0:0.1571	.	.	.	.	X	78	.	ENSP00000438460:R78X	R	+	1	2	FZD10	129213770	0.060000	0.20803	1.000000	0.80357	0.998000	0.95712	-0.567000	0.05916	1.009000	0.39289	0.561000	0.74099	CGA		0.642	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				31	584	0	0	0	0.740014	0	31	584				
DYTN	391475	broad.mit.edu	37	2	207572064	207572064	+	Silent	SNP	C	C	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:207572064C>T	ENST00000452335.2	-	3	374	c.258G>A	c.(256-258)ccG>ccA	p.P86P	DYTN_ENST00000477734.1_5'Flank	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	86						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.P86P(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GAGTGAGTTCCGGAGCTCTGG	0.522																																						ENST00000452335.2																			2	Substitution - coding silent(2)	p.P86P(2)	breast(2)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36						c.(256-258)ccG>ccA		dystrotelin							72.0	73.0	72.0					2																	207572064		1993	4160	6153	SO:0001819	synonymous_variant	391475					plasma membrane	zinc ion binding	g.chr2:207572064C>T	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.258G>A	2.37:g.207572064C>T							p.P86P	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	3	374	-			86						Silent	SNP	ENST00000452335.2	37	c.258G>A	CCDS46502.1																																																																																				0.522	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			13	64	0	0	0	0.435327	0	13	64				
PTCHD3	374308	broad.mit.edu	37	10	27702139	27702139	+	Silent	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:27702139G>A	ENST00000438700.3	-	1	1158	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	347					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.L347L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TAAATTGATCGAGCAAATGGG	0.517																																						ENST00000438700.3																			1	Substitution - coding silent(1)	p.L347L(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1039-1041)ctC>ctT		patched domain containing 3							161.0	170.0	167.0					10																	27702139		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702139G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1041C>T	10.37:g.27702139G>A							p.L347L	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	1158	-			347					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.1041C>T	CCDS31173.1																																																																																				0.517	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		346	1057	0	0	0	0.870114	0	346	1057				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			9	150	0	0	0	0.335167	0	9	150				
TERT	7015	broad.mit.edu	37	5	1268676	1268676	+	Silent	SNP	G	G	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:1268676G>A	ENST00000310581.5	-	9	2598	c.2541C>T	c.(2539-2541)ggC>ggT	p.G847G	TERT_ENST00000334602.6_Silent_p.G847G|TERT_ENST00000296820.5_Nonsense_Mutation_p.R787*|TERT_ENST00000508104.2_Nonsense_Mutation_p.R787*	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	847	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	TCTCCATGTCGCCGTAGCACA	0.627									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000296820.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2359-2361)Cga>Tga		telomerase reverse transcriptase							60.0	56.0	57.0					5																	1268676		2203	4299	6502	SO:0001819	synonymous_variant	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1268676G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2541C>T	5.37:g.1268676G>A						TERT_ENST00000334602.6_Silent_p.G847G|TERT_ENST00000310581.5_Silent_p.G847G|TERT_ENST00000508104.2_Nonsense_Mutation_p.R787*	p.R787*			O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		7	2416	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		0			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Nonsense_Mutation	SNP	ENST00000310581.5	37	c.2359C>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317035	0.60524	.	.	ENSG00000164362	ENST00000296820;ENST00000508104	.	.	.	4.26	-8.53	0.00916	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-21.1925	2.2151	0.03957	0.1623:0.3775:0.2637:0.1966	.	.	.	.	X	787	.	ENSP00000296820:R787X	R	-	1	2	TERT	1321676	0.000000	0.05858	0.266000	0.24541	0.081000	0.17604	-2.665000	0.00848	-3.015000	0.00271	-1.036000	0.02392	CGA		0.627	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			68	264	0	0	0	0.870114	0	68	264				
IL31RA	133396	broad.mit.edu	37	5	55206448	55206448	+	Silent	SNP	C	C	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:55206448C>A	ENST00000447346.2	+	12	1655	c.1590C>A	c.(1588-1590)acC>acA	p.T530T	IL31RA_ENST00000359040.5_Silent_p.T530T|IL31RA_ENST00000354961.4_Silent_p.T511T|IL31RA_ENST00000490985.1_Silent_p.T388T|IL31RA_ENST00000396834.1_Silent_p.T511T	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	498					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGCCAGCACCAGTGCTGGGG	0.473																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1531-1533)acC>acA		interleukin 31 receptor A							163.0	141.0	148.0					5																	55206448		2203	4300	6503	SO:0001819	synonymous_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55206448C>A	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1590C>A	5.37:g.55206448C>A						IL31RA_ENST00000359040.5_Silent_p.T530T|IL31RA_ENST00000490985.1_Silent_p.T388T|IL31RA_ENST00000447346.2_Silent_p.T530T|IL31RA_ENST00000354961.4_Silent_p.T511T	p.T511T	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			14	2029	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	498			Fibronectin type-III 5.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.1533C>A	CCDS3970.2																																																																																				0.473	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		134	584	1	0	4.28411e-51	0.870114	4.66074e-51	134	584				
PLCE1	51196	broad.mit.edu	37	10	96005755	96005755	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:96005755A>G	ENST00000371380.3	+	7	2708	c.2473A>G	c.(2473-2475)Aaa>Gaa	p.K825E	PLCE1_ENST00000371385.3_Missense_Mutation_p.K517E|PLCE1_ENST00000371375.1_Missense_Mutation_p.K517E|PLCE1_ENST00000260766.3_Missense_Mutation_p.K825E			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	825					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGAGCAATCCAAAGAATACGA	0.433																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(2473-2475)Aaa>Gaa		phospholipase C, epsilon 1							90.0	89.0	90.0					10																	96005755		1973	4171	6144	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96005755A>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2473A>G	10.37:g.96005755A>G	ENSP00000360431:p.Lys825Glu					PLCE1_ENST00000371375.1_Missense_Mutation_p.K517E|PLCE1_ENST00000371385.3_Missense_Mutation_p.K517E|PLCE1_ENST00000371380.2_Missense_Mutation_p.K825E	p.K825E	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			8	3107	+		Colorectal(252;0.0458)	825					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.2473A>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682643	0.47991	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	6.04	3.67	0.42095	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.175505	0.48286	D	0.000191	T	0.37265	0.0997	L	0.59436	1.845	0.36442	D	0.865526	D;P;B	0.53745	0.962;0.804;0.152	P;B;B	0.47786	0.557;0.225;0.043	T	0.46721	-0.9171	10	0.54805	T	0.06	.	13.2218	0.59892	0.7495:0.2505:0.0:0.0	.	825;517;825	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	E	825;825;517;517	ENSP00000260766:K825E;ENSP00000360431:K825E;ENSP00000360438:K517E;ENSP00000360426:K517E	ENSP00000260766:K825E	K	+	1	0	PLCE1	95995745	1.000000	0.71417	0.997000	0.53966	0.801000	0.45260	5.520000	0.67080	0.505000	0.28104	0.477000	0.44152	AAA		0.433	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		110	295	0	0	0	0.870114	0	110	295				
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T	rs201079775		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274																																						ENST00000228347.4																			4	Substitution - Missense(4)	p.L368F(4)	kidney(3)|lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.e13-1		polymerase (RNA) III (DNA directed) polypeptide B							10.0	11.0	10.0					12																	106820975		2176	4287	6463	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820975C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1C>T	12.37:g.106820975C>T						POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice|POLR3B_ENST00000549195.1_3'UTR	p.L368_splice	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1324	+			368					A8K6H0|B3KV73|F5H1E6|Q9NW59	Splice_Site	SNP	ENST00000228347.4	37	c.1101_splice	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81996	-1.44;-1.44;-1.56	5.62	5.62	0.85841	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.97682	4.055	0.80722	D	1	B	0.33807	0.426	P	0.49597	0.616	D	0.93705	0.7019	9	.	.	.	-18.9461	20.02	0.97489	0.0:1.0:0.0:0.0	.	368	Q9NW08	RPC2_HUMAN	F	368;368;310;126;31	ENSP00000228347:L368F;ENSP00000445721:L310F;ENSP00000448398:L126F	.	L	+	1	0	POLR3B	105345105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	2.809000	0.96659	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Missense_Mutation	8	42	0	0	0	0.411799	0	8	42				
COL6A1	1291	broad.mit.edu	37	21	47422162	47422162	+	Silent	SNP	C	C	T	rs537366421		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr21:47422162C>T	ENST00000361866.3	+	32	2211	c.2097C>T	c.(2095-2097)ggC>ggT	p.G699G	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	699	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GGATGGCGGGCGGCACCTTCA	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		14742	0.0		0.0	False		,,,				2504	0.001					ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2095-2097)ggC>ggT		collagen, type VI, alpha 1	Palifermin(DB00039)						11.0	11.0	11.0					21																	47422162		2160	4264	6424	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47422162C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2097C>T	21.37:g.47422162C>T						COL6A1_ENST00000498614.1_3'UTR	p.G699G	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	32	2211	+	all_hematologic(128;0.24)		699			C-terminal globular domain.|VWFA 2.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2097C>T	CCDS13727.1																																																																																				0.697	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		21	54	0	0	0	0.592651	0	21	54				
SHC4	399694	broad.mit.edu	37	15	49255053	49255053	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:49255053C>T	ENST00000332408.4	-	1	588	c.160G>A	c.(160-162)Ggc>Agc	p.G54S		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	54	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TGCGGCGAGCCCTTGTTCCCG	0.662																																						ENST00000332408.4																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(160-162)Ggc>Agc		SHC (Src homology 2 domain containing) family, member 4							36.0	40.0	38.0					15																	49255053		2197	4295	6492	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49255053C>T	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.160G>A	15.37:g.49255053C>T	ENSP00000329668:p.Gly54Ser						p.G54S	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	588	-		all_lung(180;0.00466)	54			CH2.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.160G>A	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	9.288	1.049779	0.19827	.	.	ENSG00000185634	ENST00000332408	T	0.40225	1.04	4.63	1.66	0.24008	.	0.610891	0.15419	N	0.263333	T	0.26846	0.0657	L	0.34521	1.04	0.80722	D	1	B	0.18863	0.031	B	0.15870	0.014	T	0.06320	-1.0833	10	0.08837	T	0.75	-5.508	9.9608	0.41695	0.0:0.7689:0.0:0.2311	.	54	Q6S5L8	SHC4_HUMAN	S	54	ENSP00000329668:G54S	ENSP00000329668:G54S	G	-	1	0	SHC4	47042345	1.000000	0.71417	0.987000	0.45799	0.969000	0.65631	2.254000	0.43214	0.575000	0.29434	-0.140000	0.14226	GGC		0.662	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		150	418	0	0	0	0.870114	0	150	418				
HRC	3270	broad.mit.edu	37	19	49658442	49658442	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:49658442G>T	ENST00000252825.4	-	1	239	c.53C>A	c.(52-54)gCc>gAc	p.A18D	TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000355712.5_5'Flank|TRPM4_ENST00000427978.2_5'Flank|HRC_ENST00000595625.1_Missense_Mutation_p.A18D	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	18					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GAGCAGGCTGGCCACCCCAGC	0.667																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(52-54)gCc>gAc		histidine rich calcium binding protein							34.0	37.0	36.0					19																	49658442		2203	4299	6502	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49658442G>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.53C>A	19.37:g.49658442G>T	ENSP00000252825:p.Ala18Asp					HRC_ENST00000595625.1_Missense_Mutation_p.A18D	p.A18D	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	239	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	18					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.53C>A	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104823	0.56291	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.48522	0.81	3.48	1.29	0.21616	.	.	.	.	.	T	0.52996	0.1769	M	0.64997	1.995	0.09310	N	0.999999	D	0.64830	0.994	P	0.56343	0.796	T	0.41945	-0.9480	9	0.87932	D	0	-3.1555	3.8354	0.08891	0.2322:0.2024:0.5654:0.0	.	18	P23327	SRCH_HUMAN	D	18	ENSP00000252825:A18D	ENSP00000252825:A18D	A	-	2	0	HRC	54350254	0.999000	0.42202	0.131000	0.22000	0.898000	0.52572	0.374000	0.20501	0.443000	0.26582	0.561000	0.74099	GCC		0.667	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		107	313	1	0	4.22592e-57	0.870114	4.64852e-57	107	313				
PLXDC2	84898	broad.mit.edu	37	10	20534299	20534299	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:20534299G>C	ENST00000377252.4	+	13	2179	c.1338G>C	c.(1336-1338)gaG>gaC	p.E446D	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.E397D	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	446					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GTGCAGCTGAGAAGAAAGGGG	0.468																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(1336-1338)gaG>gaC		plexin domain containing 2							129.0	116.0	120.0					10																	20534299		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20534299G>C	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1338G>C	10.37:g.20534299G>C	ENSP00000366460:p.Glu446Asp					PLXDC2_ENST00000377242.3_Missense_Mutation_p.E397D|PLXDC2_ENST00000377238.2_3'UTR	p.E446D	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			13	2179	+			446					Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1338G>C	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343622	0.41498	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.23552	1.9;1.94	5.9	3.0	0.34707	.	0.136616	0.64402	D	0.000002	T	0.15478	0.0373	N	0.20685	0.6	0.48452	D	0.999655	B;B	0.18013	0.025;0.005	B;B	0.18561	0.022;0.006	T	0.06734	-1.0810	10	0.21014	T	0.42	.	11.6336	0.51189	0.1965:0.0:0.8035:0.0	.	397;446	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	D	446;397;309;432	ENSP00000366460:E446D;ENSP00000366450:E397D	ENSP00000366446:E309D	E	+	3	2	PLXDC2	20574305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.102000	0.41796	0.819000	0.34492	0.650000	0.86243	GAG		0.468	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		84	329	0	0	0	0.870114	0	84	329				
TAF2	6873	broad.mit.edu	37	8	120843973	120843973	+	Splice_Site	SNP	T	T	C			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr8:120843973T>C	ENST00000378164.2	-	2	382		c.e2-2			NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGATGGGTTGtatattaataa	0.244																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.e2-2		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							32.0	35.0	34.0					8																	120843973		2189	4297	6486	SO:0001630	splice_region_variant	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120843973T>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.84-2A>G	8.37:g.120843973T>C								NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		2	382	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)							B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Splice_Site	SNP	ENST00000378164.2	37		CCDS34937.1																																																																																				0.244	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	Intron	60	158	0	0	0	0.870114	0	60	158				
MTMR4	9110	broad.mit.edu	37	17	56582201	56582201	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:56582201C>T	ENST00000323456.5	-	12	1362	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	MTMR4_ENST00000579925.1_Missense_Mutation_p.R413H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	413	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.|Substrate binding. {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCGGTGTGCGGTCCCAGCC	0.532																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(1237-1239)cGc>cAc		myotubularin related protein 4							131.0	124.0	127.0					17																	56582201		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56582201C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1238G>A	17.37:g.56582201C>T	ENSP00000325285:p.Arg413His					MTMR4_ENST00000579925.1_Missense_Mutation_p.R413H	p.R413H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			12	1362	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		413			Myotubularin phosphatase.|Substrate binding (By similarity).		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.1238G>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211568	0.95069	.	.	ENSG00000108389	ENST00000323456	D	0.91740	-2.9	5.58	4.61	0.57282	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.050255	0.85682	N	0.000000	D	0.97892	0.9307	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98781	1.0732	10	0.87932	D	0	.	13.7194	0.62717	0.0:0.9259:0.0:0.0741	.	413	Q9NYA4	MTMR4_HUMAN	H	413	ENSP00000325285:R413H	ENSP00000325285:R413H	R	-	2	0	MTMR4	53937200	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	1.503000	0.48686	0.591000	0.81541	CGC		0.532	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		9	761	0	0	0	0.307466	0	9	761				
COL6A5	256076	broad.mit.edu	37	3	130095344	130095344	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr3:130095344G>C	ENST00000432398.2	+	3	826	c.332G>C	c.(331-333)gGa>gCa	p.G111A	COL6A5_ENST00000265379.6_Missense_Mutation_p.G111A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	111	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTGCAGATAGGAAAGGCTCTT	0.502																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(331-333)gGa>gCa		collagen, type VI, alpha 5							52.0	49.0	50.0					3																	130095344		692	1591	2283	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130095344G>C	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.332G>C	3.37:g.130095344G>C	ENSP00000390895:p.Gly111Ala					COL6A5_ENST00000432398.2_Missense_Mutation_p.G111A	p.G111A			A8TX70	CO6A5_HUMAN			3	826	+			111			Nonhelical region.|VWFA 1.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.332G>C		.	.	.	.	.	.	.	.	.	.	G	12.17	1.857444	0.32791	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.84873	-1.91;-1.91	5.14	5.14	0.70334	.	.	.	.	.	D	0.94374	0.8191	M	0.93808	3.46	0.50039	D	0.99984	D	0.89917	1.0	D	0.87578	0.998	D	0.95050	0.8186	9	0.52906	T	0.07	.	17.7384	0.88401	0.0:0.0:1.0:0.0	.	111	A8TX70-2	.	A	111	ENSP00000390895:G111A;ENSP00000265379:G111A	ENSP00000265379:G111A	G	+	2	0	COL6A5	131578034	1.000000	0.71417	0.101000	0.21167	0.011000	0.07611	6.732000	0.74790	2.552000	0.86080	0.557000	0.71058	GGA		0.502	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		15	42	0	0	0	0.457914	0	15	42				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		6	270	0	0	0	0.217242	0	6	270				
LINC01057	101928079	broad.mit.edu	37	1	95215655	95215656	+	lincRNA	INS	-	-	AG			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:95215655_95215656insAG	ENST00000452922.1	-	0	326					NR_104131.1				long intergenic non-protein coding RNA 1057																		gaaagaaagaaagaaagaaaga	0.312																																						ENST00000452922.1																			0																																																			0							g.chr1:95215655_95215656insAG	BC030750		1p21.3	2013-08-19			ENSG00000224081	ENSG00000224081		"""Long non-coding RNAs"""	49057	non-coding RNA	RNA, long non-coding							Standard	NR_104131		Approved				OTTHUMG00000010701		1.37:g.95215656_95215657dupAG														0	326	-									RNA	INS	ENST00000452922.1	37																																																																																						0.312	LINC01057-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000029548.1			2	4						2	4	---	---	---	---
LINC01350	101929093	broad.mit.edu	37	1	185588813	185588814	+	lincRNA	DEL	AC	AC	-	rs113755277|rs548664564|rs34802713	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:185588813_185588814delAC	ENST00000436955.1	-	0	424																											TATATTacagacacacacacac	0.381														1116	0.222843	0.2685	0.1916	5008	,	,		22831	0.2966		0.1153	False		,,,				2504	0.2178					ENST00000436955.1																			0																																																			0							g.chr1:185588813_185588814delAC																													1.37:g.185588823_185588824delAC														0	424	-									RNA	DEL	ENST00000436955.1	37																																																																																						0.381	GS1-204I12.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000086350.2			2	4						2	4	---	---	---	---
MIR3681HG	100506457	broad.mit.edu	37	2	12607546	12607549	+	lincRNA	DEL	CTAT	CTAT	-	rs146884685|rs7568368|rs7571135|rs70955846		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:12607546_12607549delCTAT	ENST00000412294.1	+	0	412																											tccttccttcctatcttccttcct	0.471																																						ENST00000412294.1																			0																																																			0							g.chr2:12607546_12607549delCTAT																													2.37:g.12607546_12607549delCTAT														0	412	+									RNA	DEL	ENST00000412294.1	37																																																																																						0.471	AC096559.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000323583.2			8	5						8	5	---	---	---	---
LINC01158	100506421	broad.mit.edu	37	2	105440965	105440966	+	RNA	INS	-	-	TGG	rs200827416|rs376797707		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:105440965_105440966insTGG	ENST00000458253.1	-	0	147				AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000454729.1_RNA																							gatggtggtgatggtggtggtg	0.569																																						ENST00000458253.1																			0																																																			0							g.chr2:105440965_105440966insTGG																													2.37:g.105440972_105440974dupTGG						AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000413121.1_RNA								0	147	-									RNA	INS	ENST00000458253.1	37																																																																																						0.569	AC018730.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000329327.1			6	7						6	7	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			7	36						7	36	---	---	---	---
HOXD3	3232	broad.mit.edu	37	2	177000879	177000882	+	IGR	DEL	ACAC	ACAC	-	rs199941774|rs66771994|rs71409069|rs67556956|rs144957801|rs59378297|rs200113359		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:177000879_177000882delACAC	ENST00000459979.2	+	0	0				HOXD-AS2_ENST00000440016.2_RNA|HOXD-AS2_ENST00000426965.1_RNA			P31249	HXD3_HUMAN	homeobox D3						anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AAAGAAAAGAacacacacacacac	0.5																																						ENST00000440016.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr2:177000879_177000882delACAC		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517		2.37:g.177000887_177000890delACAC						HOXD-AS2_ENST00000426965.1_RNA								0	393	-								Q99955|Q9BSC5	RNA	DEL	ENST00000459979.2	37																																																																																						0.500	HOXD3-003	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000334249.2			3	3						3	3	---	---	---	---
LOC253573	253573	broad.mit.edu	37	3	186173679	186173680	+	lincRNA	DEL	AC	AC	-	rs550446131|rs202084526|rs34021337	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr3:186173679_186173680delAC	ENST00000427914.1	-	0	1763					NR_033844.1																						CACCCCAAAGacacacacacac	0.416														656	0.13099	0.1815	0.098	5008	,	,		17707	0.0992		0.1262	False		,,,				2504	0.1237					ENST00000427914.1																			0																																																			0							g.chr3:186173679_186173680delAC																													3.37:g.186173689_186173690delAC								NR_033844.1						0	1763	-									RNA	DEL	ENST00000427914.1	37																																																																																						0.416	RP11-48F14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000344803.1			2	4						2	4	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	212236	212236	+	RNA	DEL	A	A	-	rs80061878		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr4:212236delA	ENST00000356347.3	+	0	172					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ctaaaaatacaaaaaaaaaaa	0.493																																						ENST00000356347.3																			0																																																			0							g.chr4:212236delA	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.212236delA								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.493	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		3	5						3	5	---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1435-1437)cfs		fibroblast growth factor receptor-like 1																																				SO:0001589	frameshift_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019055_1019056delCA		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs					FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs	p.H479fs			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	2015_2016	+			479			His-rich.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	ENST00000398484.2	37	c.1435_1436delCA	CCDS3344.1																																																																																				0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		8	87						8	87	---	---	---	---
RP11-125O18.1	0	broad.mit.edu	37	4	128018839	128018840	+	lincRNA	INS	-	-	GT	rs4000742|rs66682414|rs71587304|rs551681504	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr4:128018839_128018840insGT	ENST00000504050.1	-	0	483																											AATGCGTGCACgtgtgtgtgtg	0.391																																						ENST00000504050.1																			0																																																			0							g.chr4:128018839_128018840insGT																													4.37:g.128018848_128018849dupGT														0	483	-									RNA	INS	ENST00000504050.1	37																																																																																						0.391	RP11-125O18.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366023.1			4	2						4	2	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170.0	183.0	179.0					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	1315						7	1315	---	---	---	---
NR2F1-AS1	441094	broad.mit.edu	37	5	92791549	92791550	+	RNA	INS	-	-	CA	rs148016646|rs562722581|rs199591682	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:92791549_92791550insCA	ENST00000607797.1	-	0	1229				NR2F1-AS1_ENST00000510254.1_RNA|NR2F1-AS1_ENST00000606739.1_RNA|NR2F1-AS1_ENST00000607831.1_RNA|NR2F1-AS1_ENST00000606233.1_RNA	NR_015369.1				NR2F1 antisense RNA 1																		acacacacacgcacacacacac	0.322																																						ENST00000607797.1																			0																																																			0							g.chr5:92791549_92791550insCA	BC010610, DA718791		5q15	2013-05-28	2013-05-28	2013-05-28	ENSG00000237187	ENSG00000237187		"""Long non-coding RNAs"""	48622	non-coding RNA	RNA, long non-coding						23583100	Standard	NR_109824		Approved	FLJ42709			OTTHUMG00000162643		5.37:g.92791558_92791559dupCA						NR2F1-AS1_ENST00000606739.1_RNA|NR2F1-AS1_ENST00000607831.1_RNA|NR2F1-AS1_ENST00000510254.1_RNA|NR2F1-AS1_ENST00000606233.1_RNA		NR_015369.1						0	1229	-									RNA	INS	ENST00000607797.1	37																																																																																						0.322	NR2F1-AS1-008	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000369870.2	NR_021490		3	4						3	4	---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agcacc>agc	p.T376del	UNC5A_ENST00000261961.3_In_Frame_Del_p.T336del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	376					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGACCTCAGCACCACCACCACC	0.645																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1111-1116)agc>ag		unc-5 homolog A (C. elegans)																																				SO:0001651	inframe_deletion	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301302_176301304delCAC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1113_1115delCAC	5.37:g.176301311_176301313delCAC	ENSP00000332737:p.Thr376del					UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	p.ST371del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1387_1389	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	371					B2RXE6|Q8TF26|Q96GP4	In_Frame_Del	DEL	ENST00000329542.4	37	c.1113_1115delCAC	CCDS34299.1																																																																																				0.645	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		7	823						7	823	---	---	---	---
LOC101926934	101926934	broad.mit.edu	37	6	46652103	46652104	+	RNA	DEL	TG	TG	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr6:46652103_46652104delTG	ENST00000434329.2	-	0	232				RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA																							agcacacatttgtgtgtgtgtg	0.381																																						ENST00000434329.2																			0																																																			0							g.chr6:46652103_46652104delTG																													6.37:g.46652113_46652114delTG						RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA								0	232	-									RNA	DEL	ENST00000434329.2	37																																																																																						0.381	RP11-446F17.3-002	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000040799.2			4	4						4	4	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100281686	100281688	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr7:100281686_100281688delGCT	ENST00000275732.5	-	15	3032_3034	c.1823_1825delAGC	c.(1822-1827)cagctc>ctc	p.Q608del	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	608	Gln-rich.|Poly-Gln.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AATGCCGTGAGCTGCTGCTGCTG	0.69																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1822-1827)ctc>c		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100281686_100281688delGCT	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1823_1825delAGC	7.37:g.100281695_100281697delGCT	ENSP00000275732:p.Gln608del						p.QL608del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			15	3032_3034	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		608			Gln-rich.|Poly-Gln.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.1823_1825delAGC	CCDS34708.1																																																																																				0.690	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	187						7	187	---	---	---	---
TMEM229A	730130	broad.mit.edu	37	7	123674369	123674370	+	5'Flank	INS	-	-	TCCT	rs142512049		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr7:123674369_123674370insTCCT	ENST00000455783.1	-	0	0				RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A							host cell nucleus (GO:0042025)|integral component of membrane (GO:0016021)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)	6						ccctctttATCtccttccttcc	0.55																																						ENST00000484322.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr7:123674369_123674370insTCCT	BC157828	CCDS47694.1	7q31.32	2009-09-22			ENSG00000234224	ENSG00000234224			37279	protein-coding gene	gene with protein product							Standard	NM_001136002		Approved		uc011kob.2	B2RXF0	OTTHUMG00000154762		7.37:g.123674374_123674377dupTCCT	Exception_encountered													0	75	+								A4D0X6	RNA	INS	ENST00000455783.1	37		CCDS47694.1																																																																																				0.550	TMEM229A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336960.3	NM_001136002		5	5						5	5	---	---	---	---
LOC102724710	102724710	broad.mit.edu	37	8	93644950	93644951	+	lincRNA	INS	-	-	TGTG	rs199879432|rs397939926|rs138735990|rs60570967	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr8:93644950_93644951insTGTG	ENST00000523284.1	-	0	272				AC091096.1_ENST00000408245.1_RNA																							GGTAGGCTGCAtgtgtgtgtgt	0.366														1335	0.266573	0.2844	0.2622	5008	,	,		18340	0.2956		0.2227	False		,,,				2504	0.2607					ENST00000523284.1																			0																																																			0							g.chr8:93644950_93644951insTGTG																													8.37:g.93644955_93644958dupTGTG														0	272	-									RNA	INS	ENST00000523284.1	37																																																																																						0.366	RP11-587H10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000377512.1			4	3						4	3	---	---	---	---
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	CTG	-	rs370606246		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr9:35906348_35906350delCTG	ENST00000354323.2	+	1	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	28						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.67																																						ENST00000354323.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(64-66)del		histidine rich carboxyl terminus 1				367,3839		38,291,1774						-8.3	0.0			23	737,7385		88,561,3412	no	coding	HRCT1	NM_001039792.1		126,852,5186	A1A1,A1R,RR		9.0741,8.7256,8.9552				1104,11224				SO:0001651	inframe_deletion	646962					integral to membrane		g.chr9:35906348_35906350delCTG		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.64_66delCTG	9.37:g.35906357_35906359delCTG	ENSP00000346283:p.Leu28del						p.L28del	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	160_162	+			28					B7ZBJ1	In_Frame_Del	DEL	ENST00000354323.2	37	c.64_66delCTG	CCDS35012.1																																																																																				0.670	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		8	209						8	209	---	---	---	---
RP11-531H8.1	0	broad.mit.edu	37	11	15607493	15607494	+	lincRNA	INS	-	-	AC	rs33953069|rs10625320|rs397795498	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:15607493_15607494insAC	ENST00000527770.1	+	0	550				RP11-531H8.2_ENST00000533082.1_lincRNA																							tgagtATTCAAacacacacaca	0.366																																						ENST00000527770.1																			0																																																			0							g.chr11:15607493_15607494insAC																													11.37:g.15607502_15607503dupAC						RP11-531H8.2_ENST00000533082.1_lincRNA								0	550	+									RNA	INS	ENST00000527770.1	37																																																																																						0.366	RP11-531H8.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000386597.1			4	2						4	2	---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2064701	2064701	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:2064701delT	ENST00000280665.6	-	6	627	c.548delA	c.(547-549)aagfs	p.K183fs	DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs|DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs|DCP1B_ENST00000541700.1_Intron	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	183					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ACTGGTTATCTTTTTTGGCTC	0.378																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(547-549)agfs		decapping mRNA 1B							190.0	184.0	186.0					12																	2064701		2203	4300	6503	SO:0001589	frameshift_variant	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2064701delT	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.548delA	12.37:g.2064701delT	ENSP00000280665:p.Lys183fs					DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs|DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs	p.K183fs	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		6	627	-			183					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Frame_Shift_Del	DEL	ENST00000280665.6	37	c.548delA	CCDS31727.1																																																																																				0.378	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		9	1014						9	1014	---	---	---	---
RP11-654D12.2	0	broad.mit.edu	37	12	90305779	90305782	+	lincRNA	DEL	ATGT	ATGT	-	rs146158559|rs57648028|rs569428430|rs7965584|rs141875161|rs567888741|rs34105374|rs398044634	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:90305779_90305782delATGT	ENST00000547370.1	+	0	227																											AAGTAAgtgcatgtgtgtgtgtgt	0.387																																						ENST00000547370.1																			0																																																			0							g.chr12:90305779_90305782delATGT																													12.37:g.90305779_90305782delATGT														0	227	+									RNA	DEL	ENST00000547370.1	37																																																																																						0.387	RP11-654D12.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000406664.1			3	3						3	3	---	---	---	---
LINC00566	100861547	broad.mit.edu	37	13	24906734	24906735	+	lincRNA	INS	-	-	TGTG	rs71186826|rs3075323	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr13:24906734_24906735insTGTG	ENST00000561557.1	+	0	87									long intergenic non-protein coding RNA 566																		attccataatatgtgtgtgtgt	0.396																																						ENST00000561557.1																			0																																																			0							g.chr13:24906734_24906735insTGTG	BC038727		13q12.12	2012-10-12				ENSG00000261498		"""Long non-coding RNAs"""	43710	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000175964		13.37:g.24906739_24906742dupTGTG														0	87	+									RNA	INS	ENST00000561557.1	37																																																																																						0.396	LINC00566-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000431320.1			3	3						3	3	---	---	---	---
LINC00519	161342	broad.mit.edu	37	14	51783551	51783552	+	lincRNA	DEL	CA	CA	-	rs55840808|rs141442306|rs145322732|rs56938689|rs34055190|rs201712108	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr14:51783551_51783552delCA	ENST00000557518.1	-	0	257									long intergenic non-protein coding RNA 519																		ATTTGGGATGcacacacacaca	0.356																																						ENST00000557518.1																			0																																																			0							g.chr14:51783551_51783552delCA	BG121773		14q22.1	2012-10-12	2011-11-29	2011-11-29	ENSG00000258955	ENSG00000258955		"""Long non-coding RNAs"""	19838	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 30"""	C14orf30			Standard			Approved				OTTHUMG00000171090		14.37:g.51783561_51783562delCA														0	257	-									RNA	DEL	ENST00000557518.1	37																																																																																						0.356	LINC00519-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000411624.1			2	4						2	4	---	---	---	---
SNORA11	677799	broad.mit.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs566317626		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr14:70270922delT	ENST00000408133.1	-	0	126									small nucleolar RNA, H/ACA box 11																		ATGGATTCTCTTTTTTTTTTT	0.353																																						ENST00000408133.1																			0																																																			0							g.chr14:70270922delT	AM055729		Xp11.21	2013-09-05			ENSG00000221716	ENSG00000221716		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32599	non-coding RNA	RNA, small nucleolar	"""small nucleolar RNA, H/ACA box 11A"""	300662				16361266, 16381836	Standard	NR_002953		Approved	U107, SNORA11A	uc021ptl.1				14.37:g.70270922delT														0	126	-									RNA	DEL	ENST00000408133.1	37																																																																																						0.353	SNORA11.1-201	NOVEL	basic	snoRNA	snoRNA		NR_002953		10	52						10	52	---	---	---	---
LOC101928767	101928767	broad.mit.edu	37	14	86538163	86538164	+	lincRNA	INS	-	-	GAGAGAGAGAAA	rs140881841|rs374605703	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr14:86538163_86538164insGAGAGAGAGAAA	ENST00000553668.1	+	0	182																											aggaagaaagggagagagagaa	0.416																																						ENST00000553668.1																			0																																																			0							g.chr14:86538163_86538164insGAGAGAGAGAAA																													14.37:g.86538163_86538164insGAGAGAGAGAAA														0	182	+									RNA	INS	ENST00000553668.1	37																																																																																						0.416	CTD-2341M24.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000413202.1			8	57						8	57	---	---	---	---
PAQR5	54852	broad.mit.edu	37	15	69701563	69701564	+	IGR	DEL	AC	AC	-	rs62007330|rs375092177		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:69701563_69701564delAC	ENST00000340965.3	+	0	5480				RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|RP11-253M7.1_ENST00000558107.1_RNA|Y_RNA_ENST00000384665.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V						multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						caactccccaacacacacacac	0.356																																						ENST00000558617.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr15:69701563_69701564delAC		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322		15.37:g.69701573_69701574delAC						RP11-253M7.1_ENST00000560539.1_RNA|RP11-253M7.1_ENST00000558107.1_RNA								0	878	-								Q8IXU2	RNA	DEL	ENST00000340965.3	37		CCDS10232.1																																																																																				0.356	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		3	5						3	5	---	---	---	---
RP11-255M2.2	0	broad.mit.edu	37	15	95641967	95641968	+	lincRNA	DEL	AC	AC	-	rs398043584|rs72171488|rs35731194|rs58840886|rs570875117	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:95641967_95641968delAC	ENST00000554787.1	-	0	266																											gcaaaactgtacacacacacac	0.307														2105	0.420327	0.5514	0.3501	5008	,	,		13410	0.246		0.4801	False		,,,				2504	0.411					ENST00000554787.1																			0																																																			0							g.chr15:95641967_95641968delAC																													15.37:g.95641977_95641978delAC														0	266	-									RNA	DEL	ENST00000554787.1	37																																																																																						0.307	RP11-255M2.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415212.1			2	4						2	4	---	---	---	---
PRRT2	112476	broad.mit.edu	37	16	29825016	29825016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:29825016delC	ENST00000358758.7	+	2	924	c.641delC	c.(640-642)gccfs	p.A214fs	PAGR1_ENST00000609618.1_5'Flank|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000300797.6_Frame_Shift_Del_p.A214fs|AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000567659.1_Frame_Shift_Del_p.A214fs|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567551.1_3'UTR	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	214	Pro-rich.		A -> P. {ECO:0000269|PubMed:22101681}.	A -> AP (in Ref. 3; CAD38881). {ECO:0000305}.	neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R217fs*12(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GCCAATGGGGCCCCCCCCCGA	0.652																																						ENST00000300797.6																			1	Deletion - Frameshift(1)	p.R217fs*12(1)	large_intestine(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(640-642)gcfs		proline-rich transmembrane protein 2				156,267,3649		3,1,149,6,254,1623	9.0	10.0	10.0			3.9	1.0	16		10	258,545,7149		8,2,240,21,501,3204	no	codingComplex	PRRT2	NM_145239.2		11,3,389,27,755,4827	A1A1,A1A2,A1R,A2A2,A2R,RR		10.0981,10.388,10.1963			29825016	414,812,10798	2137	4212	6349	SO:0001589	frameshift_variant	112476				response to biotic stimulus	integral to membrane		g.chr16:29825016delC	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.641delC	16.37:g.29825016delC	ENSP00000351608:p.Ala214fs					AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567659.1_Frame_Shift_Del_p.A214fs|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000358758.7_Frame_Shift_Del_p.A214fs	p.A214fs			Q7Z6L0	PRRT2_HUMAN			2	815	+			214	A -> AP (in Ref. 3; CAD38881).		Pro-rich.		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Frame_Shift_Del	DEL	ENST00000358758.7	37	c.641delC	CCDS10654.1																																																																																				0.652	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		9	143						9	143	---	---	---	---
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327																																						ENST00000565421.1																			0																																																			0							g.chr16:53404542_53404543insA																													16.37:g.53404545_53404545dupA														0	410	-									RNA	INS	ENST00000565421.1	37																																																																																						0.327	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			16	189						16	189	---	---	---	---
RP11-467L24.1	0	broad.mit.edu	37	16	64519146	64519147	+	lincRNA	DEL	AC	AC	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:64519146_64519147delAC	ENST00000564046.1	+	0	354																											GCGTGCATGGacacacacacac	0.396																																						ENST00000564046.1																			0																																																			0							g.chr16:64519146_64519147delAC																													16.37:g.64519156_64519157delAC														0	354	+									RNA	DEL	ENST00000564046.1	37																																																																																						0.396	RP11-467L24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420524.2			2	4						2	4	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183626	+	RNA	DEL	TT	TT	-	rs537660277|rs5818322|rs10617579	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:81183625_81183626delTT	ENST00000525539.1	-	0	4553				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCACACtttttttttttt	0.465														3562	0.711262	0.6044	0.7637	5008	,	,		18089	0.625		0.831	False		,,,				2504	0.7843					ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183625_81183626delTT	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183635_81183636delTT						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	4553	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000525539.1	37																																																																																						0.465	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			8	10						8	10	---	---	---	---
HCRT	3060	broad.mit.edu	37	17	40336501	40336503	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:40336501_40336503delGCA	ENST00000293330.1	-	2	151_153	c.65_67delTGC	c.(64-69)ctgccg>ccg	p.L22del		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	22					eating behavior (GO:0042755)|negative regulation of DNA replication (GO:0008156)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of transmission of nerve impulse (GO:0051970)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transmission of nerve impulse (GO:0051971)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)		p.L22delL(1)		breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGCGCGGgcggcagcagcagcag	0.704																																						ENST00000293330.1																			1	Deletion - In frame(1)	p.L22delL(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)	2						c.(64-69)ccg>c		hypocretin (orexin) neuropeptide precursor																																				SO:0001651	inframe_deletion	3060				neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle		g.chr17:40336501_40336503delGCA	AF041240	CCDS11421.1	17q21	2013-02-28				ENSG00000161610		"""Endogenous ligands"""	4847	protein-coding gene	gene with protein product	"""prepro-orexin"""	602358				9419374, 9491897	Standard	NM_001524		Approved	PPOX, OX	uc002hzc.1	O43612		ENST00000293330.1:c.65_67delTGC	17.37:g.40336510_40336512delGCA	ENSP00000293330:p.Leu22del						p.LP22del	NM_001524.1	NP_001515.1	O43612	OREX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	151_153	-		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)	22						In_Frame_Del	DEL	ENST00000293330.1	37	c.65_67delTGC	CCDS11421.1																																																																																				0.704	HCRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449792.1	NM_001524		7	112						7	112	---	---	---	---
DSCAS	101927698	broad.mit.edu	37	18	28696726	28696727	+	RNA	INS	-	-	AAGG	rs71175759|rs71372016		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr18:28696726_28696727insAAGG	ENST00000581836.1	+	0	208																											aggaaggaaggaagaaagaaag	0.426																																						ENST00000581836.1																			0																																																			0							g.chr18:28696726_28696727insAAGG																													18.37:g.28696723_28696726dupAAGG														0	208	+									RNA	INS	ENST00000581836.1	37																																																																																						0.426	RP11-408H20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000447388.1			2	4						2	4	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36214865	36214866	+	Frame_Shift_Ins	INS	-	-	G	rs34014681	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:36214865_36214866insG	ENST00000222270.7	+	8	3291_3292	c.3291_3292insG	c.(3292-3294)gggfs	p.G1098fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Ins_p.G1098fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1098					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ACTCGGAGCCCGGGGGCCCCCC	0.574																																						ENST00000420124.1																			0											c.(3289-3294)ccggggfs																																						SO:0001589	frameshift_variant	0							g.chr19:36214865_36214866insG	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3296dupG	19.37:g.36214870_36214870dupG	ENSP00000222270:p.Gly1098fs					WBP7_ENST00000222270.7_Frame_Shift_Ins_p.PG1097fs|KMT2B_ENST00000607650.1_RNA	p.PG1097fs							8	3291_3292	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Ins	INS	ENST00000222270.7	37	c.3291_3292insG	CCDS46055.1																																																																																				0.574	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		13	374						13	374	---	---	---	---
ZNF428	126299	broad.mit.edu	37	19	44111875	44111877	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:44111875_44111877delTCC	ENST00000300811.3	-	3	905_907	c.459_461delGGA	c.(457-462)gaggaa>gaa	p.153_154EE>E	SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	153	Glu-rich.						metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				ctcctcctcttcctcctcctcct	0.66																																						ENST00000300811.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(457-462)gaa>ga		zinc finger protein 428																																				SO:0001651	inframe_deletion	126299					intracellular	zinc ion binding	g.chr19:44111875_44111877delTCC	AY257197	CCDS12626.1	19q13.31	2008-05-02	2006-07-04	2006-07-04				"""Zinc fingers, C2H2-type"""	20804	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 37"""	C19orf37			Standard	NM_182498		Approved	MGC51082, Zfp428	uc002oxa.3	Q96B54		ENST00000300811.3:c.459_461delGGA	19.37:g.44111884_44111886delTCC	ENSP00000300811:p.Glu158del					SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron	p.EE157del	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN			3	905_907	-		Prostate(69;0.0153)	157			Glu-rich.		O95054|Q6X3Y3	In_Frame_Del	DEL	ENST00000300811.3	37	c.459_461delGGA	CCDS12626.1																																																																																				0.660	ZNF428-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463349.1	NM_182498		7	189						7	189	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935504	47935507	+	Frame_Shift_Del	DEL	GCGA	GCGA	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:47935504_47935507delGCGA	ENST00000236877.6	-	9	2701_2704	c.2306_2309delTCGC	c.(2305-2310)ctcgccfs	p.LA769fs	SLC8A2_ENST00000542837.1_Frame_Shift_Del_p.LA525fs|SLC8A2_ENST00000539381.1_Frame_Shift_Del_p.LA232fs|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	769					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GAAGTGGGAGGCGAGGTCCCCAAT	0.623																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2305-2310)ccfs		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001589	frameshift_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935504_47935507delGCGA	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2306_2309delTCGC	19.37:g.47935504_47935507delGCGA	ENSP00000236877:p.Leu769fs					SLC8A2_ENST00000542837.1_Frame_Shift_Del_p.LA525fs|SLC8A2_ENST00000539381.1_Frame_Shift_Del_p.LA232fs	p.LA769fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2701_2704	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	769					B4DYQ9	Frame_Shift_Del	DEL	ENST00000236877.6	37	c.2306_2309delTCGC	CCDS33065.1																																																																																				0.623	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			97	337						97	337	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			8	724						8	724	---	---	---	---
RP11-545D19.1	0	broad.mit.edu	37	X	34332105	34332112	+	lincRNA	DEL	GTGTGTGT	GTGTGTGT	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrX:34332105_34332112delGTGTGTGT	ENST00000412652.1	-	0	357																											TGACTGAGTGgtgtgtgtgtgtgtgtgt	0.385																																						ENST00000412652.1																			0																																																			0							g.chrX:34332105_34332112delGTGTGTGT																													X.37:g.34332113_34332120delGTGTGTGT														0	357	-									RNA	DEL	ENST00000412652.1	37																																																																																						0.385	RP11-545D19.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000056208.1			3	4						3	4	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(334-339)ggg>gg		RNA binding motif protein 10			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1.0			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	p.GE112del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1078_1080	+			112					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.660	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		7	97						7	97	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70472554	70472555	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrX:70472554_70472555insA	ENST00000353904.2	-	2	738_739	c.551_552insT	c.(550-552)ccafs	p.P184fs	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373978.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373982.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373981.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.P184fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	184					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGGGCTCTGTGGCTGCCCTTG	0.604																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(550-552)ccafs		zinc finger, MYM-type 3																																				SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70472554_70472555insA	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.551_552insT	X.37:g.70472554_70472555insA	ENSP00000343909:p.Pro184fs					ZMYM3_ENST00000373978.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373981.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373982.1_Frame_Shift_Ins_p.P184fs	p.P184fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			2	1248_1249	-	Renal(35;0.156)		184					D3DVV3|O15089|Q96E26	Frame_Shift_Ins	INS	ENST00000353904.2	37	c.551_552insT	CCDS14409.1																																																																																				0.604	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		114	137						114	137	---	---	---	---
