#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
GABRB1	2560	broad.mit.edu	37	4	47427842	47427842	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr4:47427842G>A	ENST00000295454.3	+	9	1524	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	GABRB1_ENST00000538619.1_Missense_Mutation_p.R341H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	411					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGAGCAGCCGCGAGGCCTAC	0.662																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1231-1233)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						37.0	43.0	41.0					4																	47427842		2203	4299	6502	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427842G>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1232G>A	4.37:g.47427842G>A	ENSP00000295454:p.Arg411His					GABRB1_ENST00000538619.1_Missense_Mutation_p.R341H	p.R411H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1524	+			411					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1232G>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413160	0.42817	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.86230	-2.09;-2.09	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.143817	0.40818	N	0.001013	D	0.90515	0.7028	L	0.56340	1.77	0.48288	D	0.999628	B;D	0.64830	0.043;0.994	B;P	0.56398	0.045;0.797	D	0.90270	0.4307	10	0.52906	T	0.07	-9.3924	19.3205	0.94236	0.0:0.0:1.0:0.0	.	341;411	F5GXV5;P18505	.;GBRB1_HUMAN	H	411;341	ENSP00000295454:R411H;ENSP00000440330:R341H	ENSP00000295454:R411H	R	+	2	0	GABRB1	47122599	1.000000	0.71417	0.997000	0.53966	0.072000	0.16883	6.016000	0.70798	2.803000	0.96430	0.650000	0.86243	CGC		0.662	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			3	49	0	0	0	1	0	3	49				
TSHZ3	57616	broad.mit.edu	37	19	31768395	31768395	+	Silent	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:31768395G>A	ENST00000240587.4	-	2	2631	c.2304C>T	c.(2302-2304)ccC>ccT	p.P768P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	768					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGACTGCAGGGGCGGCGGGG	0.597																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2302-2304)ccC>ccT		teashirt zinc finger homeobox 3							72.0	69.0	70.0					19																	31768395		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768395G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2304C>T	19.37:g.31768395G>A							p.P768P	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	2631	-	Esophageal squamous(110;0.226)		768					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.2304C>T	CCDS12421.2																																																																																				0.597	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		14	46	0	0	0	1	0	14	46				
CCT2	10576	broad.mit.edu	37	12	69981294	69981294	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr12:69981294C>A	ENST00000299300.6	+	4	342	c.154C>A	c.(154-156)Ctt>Att	p.L52I	MIR3913-2_ENST00000577744.1_RNA|CCT2_ENST00000543146.2_Missense_Mutation_p.L5I|CCT2_ENST00000544368.2_Missense_Mutation_p.L52I	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	52					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGACAAAATTCTTCTAAGCAG	0.378																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(13-15)Ctt>Att		chaperonin containing TCP1, subunit 2 (beta)							92.0	81.0	85.0					12																	69981294		2203	4300	6503	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69981294C>A	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.154C>A	12.37:g.69981294C>A	ENSP00000299300:p.Leu52Ile					CCT2_ENST00000299300.6_Missense_Mutation_p.L52I|CCT2_ENST00000544368.2_Missense_Mutation_p.L52I	p.L5I	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		4	495	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		52					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.13C>A	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325473	0.60743	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	D;D;D	0.81499	-1.5;-1.5;-1.5	6.06	5.18	0.71444	Chaperonin TCP-1, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.86481	0.5943	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.83275	0.996;0.995	D	0.85839	0.1396	9	.	.	.	-24.2385	15.0874	0.72165	0.0:0.9317:0.0:0.0683	.	52;52	F5GWF6;P78371	.;TCPB_HUMAN	I	52;52;5	ENSP00000299300:L52I;ENSP00000441847:L52I;ENSP00000445471:L5I	.	L	+	1	0	CCT2	68267561	1.000000	0.71417	0.991000	0.47740	0.960000	0.62799	2.150000	0.42254	1.582000	0.49881	0.650000	0.86243	CTT		0.378	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		5	33	1	0	0.184627	1	0.184627	5	33				
SPOP	8405	broad.mit.edu	37	17	47696438	47696438	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr17:47696438T>C	ENST00000393328.2	-	6	750	c.385A>G	c.(385-387)Aaa>Gaa	p.K129E	SPOP_ENST00000503676.1_Missense_Mutation_p.K129E|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.K129E|SPOP_ENST00000393331.3_Missense_Mutation_p.K129E|SPOP_ENST00000504102.1_Missense_Mutation_p.K129E	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	129	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.K129E(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CCCCAGTCTTTGCCTTGCACA	0.453										Prostate(2;0.17)																												ENST00000393331.3																			1	Substitution - Missense(1)	p.K129E(1)	prostate(1)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(385-387)Aaa>Gaa		speckle-type POZ protein							120.0	123.0	122.0					17																	47696438		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696438T>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.385A>G	17.37:g.47696438T>C	ENSP00000377001:p.Lys129Glu	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.K129E|SPOP_ENST00000503676.1_Missense_Mutation_p.K129E|SPOP_ENST00000347630.2_Missense_Mutation_p.K129E|SPOP_ENST00000393328.2_Missense_Mutation_p.K129E	p.K129E	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	855	-			129			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.385A>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496558	0.85069	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	L	0.33245	0.995	0.80722	D	1	P	0.51653	0.947	P	0.57679	0.825	T	0.20907	-1.0261	10	0.15066	T	0.55	-5.7425	15.258	0.73599	0.0:0.0:0.0:1.0	.	129	O43791	SPOP_HUMAN	E	129;129;129;129;13;129;82;129;129;129;129	ENSP00000377001:K129E;ENSP00000377004:K129E;ENSP00000240327:K129E;ENSP00000425905:K129E;ENSP00000420908:K129E;ENSP00000426986:K129E;ENSP00000420960:K129E;ENSP00000426262:K129E;ENSP00000424119:K129E	ENSP00000240327:K129E	K	-	1	0	SPOP	45051437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.861000	0.87004	2.261000	0.74972	0.460000	0.39030	AAA		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		6	134	0	0	0	1	0	6	134				
TRIM5	85363	broad.mit.edu	37	11	5686494	5686494	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr11:5686494T>A	ENST00000380034.3	-	8	1283	c.1027A>T	c.(1027-1029)Aat>Tat	p.N343Y	TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000305836.5_Missense_Mutation_p.N343Y|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	343	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GTACAATAATTGAAATTCACA	0.443																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1027-1029)Aat>Tat		tripartite motif containing 5							98.0	94.0	95.0					11																	5686494		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686494T>A	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1027A>T	11.37:g.5686494T>A	ENSP00000369373:p.Asn343Tyr					TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Missense_Mutation_p.N343Y	p.N343Y			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1329	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	343			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.1027A>T	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	T	3.198	-0.164312	0.06502	.	.	ENSG00000132256	ENST00000305836;ENST00000380034	T;T	0.60424	0.19;0.19	1.53	-3.05	0.05396	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	2.123210	0.02827	N	0.126339	T	0.33673	0.0871	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17715	-1.0360	10	0.30078	T	0.28	.	7.7767	0.29041	0.0:0.6417:0.0:0.3583	.	343	Q9C035	TRIM5_HUMAN	Y	343	ENSP00000307031:N343Y;ENSP00000369373:N343Y	ENSP00000307031:N343Y	N	-	1	0	TRIM5	5643070	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.223000	0.09177	-1.509000	0.01798	-0.464000	0.05259	AAT		0.443	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		24	98	0	0	0	1	0	24	98				
AP1M2	10053	broad.mit.edu	37	19	10692007	10692007	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:10692007A>C	ENST00000250244.6	-	6	690	c.608T>G	c.(607-609)tTt>tGt	p.F203C	AP1M2_ENST00000590923.1_Missense_Mutation_p.F203C	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	203	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TCCTGACAGAAACACCTTGAG	0.542											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000590923.1																			0				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(607-609)tTt>tGt		adaptor-related protein complex 1, mu 2 subunit							54.0	57.0	56.0					19																	10692007		2061	4213	6274	SO:0001583	missense	10053				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:10692007A>C	AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.608T>G	19.37:g.10692007A>C	ENSP00000250244:p.Phe203Cys		OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	666	AP1M2_ENST00000250244.6_Missense_Mutation_p.F203C	p.F203C			Q9Y6Q5	AP1M2_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		6	691	-			203			MHD.		B2RDV5|Q9BSI8	Missense_Mutation	SNP	ENST00000250244.6	37	c.608T>G	CCDS45964.1	.	.	.	.	.	.	.	.	.	.	a	14.52	2.559451	0.45590	.	.	ENSG00000129354	ENST00000250244	T	0.21031	2.03	5.28	4.25	0.50352	Clathrin adaptor, mu subunit, C-terminal (3);	0.108077	0.64402	D	0.000008	T	0.42063	0.1186	M	0.80616	2.505	0.45777	D	0.998667	B;D	0.59767	0.046;0.986	B;P	0.58520	0.047;0.84	T	0.38067	-0.9678	10	0.62326	D	0.03	-16.2973	11.4368	0.50072	0.8485:0.1515:0.0:0.0	.	203;203	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	C	203	ENSP00000250244:F203C	ENSP00000250244:F203C	F	-	2	0	AP1M2	10553007	1.000000	0.71417	0.990000	0.47175	0.680000	0.39746	9.284000	0.95882	0.832000	0.34804	0.449000	0.29647	TTT		0.542	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			11	37	0	0	0	1	0	11	37				
A2M	2	broad.mit.edu	37	12	9230011	9230011	+	Silent	SNP	T	T	G			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr12:9230011T>G	ENST00000318602.7	-	27	3589	c.3282A>C	c.(3280-3282)ggA>ggC	p.G1094G	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1094					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CATCTTCTACTCCTCCCTGTG	0.448																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(3280-3282)ggA>ggC		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						92.0	93.0	93.0					12																	9230011		2192	4299	6491	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9230011T>G	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3282A>C	12.37:g.9230011T>G							p.G1094G	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			27	3589	-			1094					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.3282A>C	CCDS44827.1																																																																																				0.448	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		3	9	0	0	0	1	0	3	9				
ZNF799	90576	broad.mit.edu	37	19	12502046	12502046	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:12502046C>T	ENST00000430385.3	-	4	1366	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.G357E	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AGGTCCATCTCCAGTGTGCAT	0.423																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1069-1071)gGa>gAa		zinc finger protein 799							183.0	175.0	178.0					19																	12502046		2203	4300	6503	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502046C>T	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1166G>A	19.37:g.12502046C>T	ENSP00000411084:p.Gly389Glu					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.G389E	p.G357E			Q96GE5	ZN799_HUMAN			4	1819	-			389						Missense_Mutation	SNP	ENST00000430385.3	37	c.1070G>A	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115795	0.77323	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.25749	1.78;1.78	1.31	1.31	0.21738	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37679	0.1012	L	0.45422	1.42	0.38348	D	0.944251	D	0.89917	1.0	D	0.97110	1.0	T	0.35226	-0.9797	9	0.66056	D	0.02	.	8.5098	0.33211	0.0:1.0:0.0:0.0	.	389	Q96GE5	ZN799_HUMAN	E	357;389	ENSP00000415278:G357E;ENSP00000411084:G389E	ENSP00000415278:G357E	G	-	2	0	ZNF799	12363046	0.003000	0.15002	0.175000	0.22980	0.928000	0.56348	0.883000	0.28200	1.021000	0.39600	0.430000	0.28490	GGA		0.423	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	198	0	0	0	1	0	5	198				
SMAD9	4093	broad.mit.edu	37	13	37453545	37453545	+	Silent	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr13:37453545G>A	ENST00000399275.2	-	1	421	c.282C>T	c.(280-282)cgC>cgT	p.R94R	SMAD9_ENST00000350148.5_Silent_p.R94R|SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000379826.4_Silent_p.R94R			O15198	SMAD9_HUMAN	SMAD family member 9	94	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGCGCCACACGCGACAGTAAA	0.632																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(280-282)cgC>cgT		SMAD family member 9							35.0	37.0	36.0					13																	37453545		2203	4300	6503	SO:0001819	synonymous_variant	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37453545G>A		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.282C>T	13.37:g.37453545G>A						SMAD9_ENST00000350148.5_Silent_p.R94R|SMAD9_ENST00000399275.2_Silent_p.R94R	p.R94R	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	2	624	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	94			MH1.		A2A2Y6|O14989|Q5TBA1	Silent	SNP	ENST00000399275.2	37	c.282C>T	CCDS45032.1																																																																																				0.632	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		4	13	0	0	0	1	0	4	13				
KIAA1324	57535	broad.mit.edu	37	1	109742748	109742748	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr1:109742748T>G	ENST00000369939.3	+	20	2879	c.2696T>G	c.(2695-2697)gTc>gGc	p.V899G	KIAA1324_ENST00000529753.1_Missense_Mutation_p.V812G|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	899					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GAGCAGAGAGTCACCATCTGC	0.498																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2695-2697)gTc>gGc		KIAA1324							84.0	83.0	83.0					1																	109742748		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109742748T>G	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2696T>G	1.37:g.109742748T>G	ENSP00000358955:p.Val899Gly					KIAA1324_ENST00000529753.1_Missense_Mutation_p.V812G|KIAA1324_ENST00000369938.1_3'UTR	p.V899G	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	20	2879	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	899					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.2696T>G	CCDS794.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.190774	0.78789	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.16073	2.57;2.37;2.58	5.8	5.8	0.92144	.	0.212100	0.41194	D	0.000938	T	0.29749	0.0743	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.76494	0.971;0.999;0.971;0.971	P;D;P;P	0.69654	0.879;0.965;0.879;0.815	T	0.03750	-1.1007	10	0.87932	D	0	-32.9064	15.1432	0.72626	0.0:0.0:0.0:1.0	.	899;812;899;899	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	G	899;849;812	ENSP00000358955:V899G;ENSP00000393964:V849G;ENSP00000434595:V812G	ENSP00000358955:V899G	V	+	2	0	KIAA1324	109544271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.185000	0.50934	2.227000	0.72691	0.460000	0.39030	GTC		0.498	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		7	69	0	0	0	1	0	7	69				
TMEM39A	55254	broad.mit.edu	37	3	119153689	119153689	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr3:119153689G>A	ENST00000319172.5	-	8	1573	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	385						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CTGCTGTGCCGCACCAGCACC	0.438																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(1153-1155)Cgg>Tgg		transmembrane protein 39A							101.0	93.0	96.0					3																	119153689		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119153689G>A	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.1153C>T	3.37:g.119153689G>A	ENSP00000326063:p.Arg385Trp						p.R385W	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	8	1573	-			385					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.1153C>T	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.845922	0.71603	.	.	ENSG00000176142	ENST00000319172	T	0.55234	0.53	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75502	-0.3295	10	0.87932	D	0	-7.673	17.3349	0.87277	0.0:0.0:1.0:0.0	.	385	Q9NV64	TM39A_HUMAN	W	385	ENSP00000326063:R385W	ENSP00000326063:R385W	R	-	1	2	TMEM39A	120636379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.089000	0.64492	2.636000	0.89361	0.655000	0.94253	CGG		0.438	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		4	80	0	0	0	1	0	4	80				
BTG4	54766	broad.mit.edu	37	11	111368082	111368082	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr11:111368082C>G	ENST00000356018.2	-	4	563	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	BTG4_ENST00000525791.1_Missense_Mutation_p.E122Q	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	122					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		TCCCATTCCTCCCATCTGCCT	0.393																																						ENST00000525791.1																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(364-366)Gag>Cag		B-cell translocation gene 4							107.0	103.0	104.0					11																	111368082		2201	4297	6498	SO:0001583	missense	54766				cell cycle arrest|negative regulation of cell proliferation|neuron differentiation			g.chr11:111368082C>G	AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.364G>C	11.37:g.111368082C>G	ENSP00000348300:p.Glu122Gln					BTG4_ENST00000356018.2_Missense_Mutation_p.E122Q	p.E122Q			Q9NY30	BTG4_HUMAN		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)	4	548	-		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	122					Q8NEH7	Missense_Mutation	SNP	ENST00000356018.2	37	c.364G>C	CCDS8346.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013801	0.75161	.	.	ENSG00000137707	ENST00000356018;ENST00000525791;ENST00000456861	.	.	.	5.21	5.21	0.72293	.	10.356700	0.05402	U	0.540893	T	0.72526	0.3471	M	0.73962	2.25	0.29790	N	0.833315	D;D	0.63046	0.992;0.991	P;P	0.58520	0.84;0.606	T	0.63761	-0.6564	9	0.29301	T	0.29	.	17.3406	0.87294	0.0:1.0:0.0:0.0	.	122;122	Q8NEH7;Q9NY30	.;BTG4_HUMAN	Q	122	.	ENSP00000348300:E122Q	E	-	1	0	BTG4	110873292	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.239000	0.43079	2.428000	0.82296	0.650000	0.86243	GAG		0.393	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391177.1			8	49	0	0	0	1	0	8	49				
CPSF3L	54973	broad.mit.edu	37	1	1250305	1250305	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr1:1250305T>A	ENST00000435064.1	-	7	683	c.601A>T	c.(601-603)Atc>Ttc	p.I201F	CPSF3L_ENST00000545578.1_Missense_Mutation_p.I172F|CPSF3L_ENST00000450926.2_Missense_Mutation_p.I179F|CPSF3L_ENST00000540437.1_Missense_Mutation_p.I207F|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000411962.1_Missense_Mutation_p.I103F|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000419704.1_Missense_Mutation_p.I100F|CPSF3L_ENST00000421495.2_5'UTR	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	201					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GACTCTGTGATGAGCAGGTTG	0.632																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(619-621)Atc>Ttc		cleavage and polyadenylation specific factor 3-like							82.0	70.0	75.0					1																	1250305		2201	4297	6498	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1250305T>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.601A>T	1.37:g.1250305T>A	ENSP00000413493:p.Ile201Phe					CPSF3L_ENST00000411962.1_Missense_Mutation_p.I103F|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Missense_Mutation_p.I172F|CPSF3L_ENST00000419704.1_Missense_Mutation_p.I100F|CPSF3L_ENST00000450926.2_Missense_Mutation_p.I179F|CPSF3L_ENST00000435064.1_Missense_Mutation_p.I201F|CPSF3L_ENST00000421495.2_5'UTR	p.I207F	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	9	1074	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	201					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.619A>T	CCDS21.1	.	.	.	.	.	.	.	.	.	.	t	20.9	4.069004	0.76301	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000526332;ENST00000527719;ENST00000530031	T;T;T;T;T;T;T;T;T	0.62105	0.65;0.65;0.65;0.65;0.33;0.65;0.05;0.35;0.28	5.53	5.53	0.82687	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.84763	0.5544	H	0.94808	3.585	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.996;0.997;0.999;0.999	D	0.89235	0.3580	10	0.87932	D	0	-46.962	15.6581	0.77158	0.0:0.0:0.0:1.0	.	179;172;103;100;207;201	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	F	201;103;100;207;179;172;231;77;207;248	ENSP00000413493:I201F;ENSP00000404886:I100F;ENSP00000445001:I207F;ENSP00000392848:I179F;ENSP00000444672:I172F;ENSP00000411233:I231F;ENSP00000434790:I77F;ENSP00000436743:I207F;ENSP00000432009:I248F	ENSP00000400548:I103F	I	-	1	0	CPSF3L	1240168	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.578000	0.82498	2.102000	0.63906	0.529000	0.55759	ATC		0.632	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		6	29	0	0	0	1	0	6	29				
GRN	2896	broad.mit.edu	37	17	42428524	42428524	+	Silent	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr17:42428524G>A	ENST00000053867.3	+	8	890	c.828G>A	c.(826-828)gcG>gcA	p.A276A	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	276					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)	p.A276A(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGCTGCCTGCGCACACAGGTA	0.587											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000053867.3																			1	Substitution - coding silent(1)	p.A276A(1)	central_nervous_system(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(826-828)gcG>gcA		granulin							89.0	88.0	88.0					17																	42428524		2203	4300	6503	SO:0001819	synonymous_variant	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42428524G>A	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.828G>A	17.37:g.42428524G>A			OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	908	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_Intron	p.A276A	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	8	890	+		Prostate(33;0.0181)	276					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Silent	SNP	ENST00000053867.3	37	c.828G>A	CCDS11483.1																																																																																				0.587	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		10	42	0	0	0	1	0	10	42				
HCFC1	3054	broad.mit.edu	37	X	153216312	153216312	+	Silent	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chrX:153216312C>T	ENST00000310441.7	-	23	6621	c.5655G>A	c.(5653-5655)acG>acA	p.T1885T	HCFC1_ENST00000369984.4_Silent_p.T1930T|HCFC1_ENST00000354233.3_Silent_p.T1816T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1885	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCAGGCACGTCTTAAAGG	0.572																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(5653-5655)acG>acA		host cell factor C1 (VP16-accessory protein)							105.0	113.0	111.0					X																	153216312		1937	4115	6052	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153216312C>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5655G>A	X.37:g.153216312C>T						HCFC1_ENST00000369984.4_Silent_p.T1930T|HCFC1_ENST00000354233.3_Silent_p.T1816T	p.T1885T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			23	6621	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1885					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.5655G>A	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	9.109	1.006190	0.19199	.	.	ENSG00000172534	ENST00000444191	.	.	.	5.64	-9.0	0.00747	.	.	.	.	.	T	0.31796	0.0808	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39143	-0.9628	4	.	.	.	.	0.7064	0.00917	0.207:0.1984:0.2115:0.3831	.	.	.	.	M	461	.	.	V	-	1	0	HCFC1	152869506	0.000000	0.05858	0.449000	0.26957	0.894000	0.52154	-9.255000	0.00012	-1.992000	0.00975	-1.202000	0.01658	GTG		0.572	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		42	57	0	0	0	1	0	42	57				
EPHB1	2047	broad.mit.edu	37	3	134977925	134977925	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr3:134977925G>C	ENST00000398015.3	+	16	3288	c.2918G>C	c.(2917-2919)aGg>aCg	p.R973T	EPHB1_ENST00000493838.1_Missense_Mutation_p.R534T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	973	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.		R -> W (in dbSNP:rs1042784). {ECO:0000269|PubMed:9430661}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATTCTATGAGGGTCCAGATA	0.502																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2917-2919)aGg>aCg		EPH receptor B1							75.0	68.0	71.0					3																	134977925		1947	4156	6103	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134977925G>C	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2918G>C	3.37:g.134977925G>C	ENSP00000381097:p.Arg973Thr					EPHB1_ENST00000493838.1_Missense_Mutation_p.R534T	p.R973T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			16	3288	+			973		R -> W (in dbSNP:rs1042784).	SAM.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2918G>C	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737628	0.69304	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.53423	0.62;0.62	5.63	5.63	0.86233	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.84846	2.72	0.53688	D	0.999978	B	0.32653	0.379	B	0.38378	0.272	T	0.66396	-0.5934	10	0.87932	D	0	.	19.6855	0.95978	0.0:0.0:1.0:0.0	.	973	P54762	EPHB1_HUMAN	T	973;534	ENSP00000381097:R973T;ENSP00000419574:R534T	ENSP00000381097:R973T	R	+	2	0	EPHB1	136460615	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.789000	0.85783	2.637000	0.89404	0.561000	0.74099	AGG		0.502	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		3	11	0	0	0	1	0	3	11				
RP1	6101	broad.mit.edu	37	8	55537426	55537426	+	Silent	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr8:55537426C>T	ENST00000220676.1	+	4	1132	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	328					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTAATCAAGACGGCACTATGA	0.323																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(982-984)gaC>gaT		retinitis pigmentosa 1 (autosomal dominant)							64.0	65.0	65.0					8																	55537426		2203	4299	6502	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537426C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.984C>T	8.37:g.55537426C>T							p.D328D	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1132	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	328						Silent	SNP	ENST00000220676.1	37	c.984C>T	CCDS6160.1																																																																																				0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		3	39	0	0	0	1	0	3	39				
MUC17	140453	broad.mit.edu	37	7	100683876	100683876	+	Missense_Mutation	SNP	T	T	G	rs145514577		TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr7:100683876T>G	ENST00000306151.4	+	3	9243	c.9179T>G	c.(9178-9180)aTt>aGt	p.I3060S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3060	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTGGCCATTCCTGAGGCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		25521	0.0		0.001	False		,,,				2504	0.0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9178-9180)aTt>aGt		mucin 17, cell surface associated							275.0	283.0	280.0					7																	100683876		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683876T>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9179T>G	7.37:g.100683876T>G	ENSP00000302716:p.Ile3060Ser						p.I3060S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9243	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3060			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9179T>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.327	-0.958208	0.02267	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	0.814	-0.258	0.12975	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.48681	-0.9014	9	0.17369	T	0.5	.	3.7091	0.08413	0.0:0.5408:0.2591:0.2001	.	3060	Q685J3	MUC17_HUMAN	S	3060	ENSP00000302716:I3060S	ENSP00000302716:I3060S	I	+	2	0	MUC17	100470596	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.610000	0.00209	-0.661000	0.05345	-2.058000	0.00401	ATT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		4	188	0	0	0	1	0	4	188				
GAK	2580	broad.mit.edu	37	4	870995	870995	+	Splice_Site	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr4:870995C>T	ENST00000314167.4	-	17	1967	c.1857G>A	c.(1855-1857)cgG>cgA	p.R619R	GAK_ENST00000511163.1_Splice_Site_p.R540R	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	619	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCTTAAAGTCCCTAAGGACAG	0.443																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.e17-1		cyclin G associated kinase							45.0	47.0	46.0					4																	870995		2203	4300	6503	SO:0001630	splice_region_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:870995C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1857-1G>A	4.37:g.870995C>T						GAK_ENST00000511163.1_Splice_Site_p.R540_splice	p.R619_splice	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	17	1967	-			619			C2 tensin-type.		Q5U4P5|Q9BVY6	Splice_Site	SNP	ENST00000314167.4	37	c.1856_splice	CCDS3340.1																																																																																				0.443	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	Silent	11	34	0	0	0	1	0	11	34				
OR8U1	219417	broad.mit.edu	37	11	56143599	56143599	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr11:56143599C>T	ENST00000302270.1	+	1	500	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TTCCGCCTCTCCTATTGCCAC	0.448																																						ENST00000302270.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39						c.(499-501)tCc>tTc		olfactory receptor, family 8, subfamily U, member 1							229.0	220.0	223.0					11																	56143599		2105	4225	6330	SO:0001583	missense	219417							g.chr11:56143599C>T	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.500C>T	11.37:g.56143599C>T	ENSP00000304188:p.Ser167Phe						p.S167F	NM_001005204.1	NP_001005204.1					1	500	+	Esophageal squamous(21;0.00448)								Missense_Mutation	SNP	ENST00000302270.1	37	c.500C>T	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874627	0.17395	.	.	ENSG00000172199	ENST00000302270	T	0.00130	8.69	5.78	1.23	0.21249	GPCR, rhodopsin-like superfamily (1);	0.428844	0.19994	N	0.101493	T	0.00328	0.0010	M	0.88842	2.985	0.09310	N	1	P	0.41498	0.752	P	0.47705	0.555	T	0.15206	-1.0445	10	0.66056	D	0.02	.	11.0411	0.47831	0.0:0.7324:0.1275:0.1401	.	167	Q8NH10	OR8U1_HUMAN	F	167	ENSP00000304188:S167F	ENSP00000304188:S167F	S	+	2	0	OR8U1	55900175	0.000000	0.05858	0.394000	0.26270	0.003000	0.03518	-0.272000	0.08560	-0.044000	0.13491	-0.950000	0.02660	TCC		0.448	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		5	198	0	0	0	1	0	5	198				
CPS1	1373	broad.mit.edu	37	2	211518758	211518758	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr2:211518758G>A	ENST00000233072.5	+	29	3686	c.3490G>A	c.(3490-3492)Gtg>Atg	p.V1164M	CPS1_ENST00000451903.2_Missense_Mutation_p.V713M|CPS1_ENST00000430249.2_Missense_Mutation_p.V1170M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1164	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GGAGCACCCAGTGGTGCTGAC	0.423																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(3490-3492)Gtg>Atg		carbamoyl-phosphate synthase 1, mitochondrial							106.0	106.0	106.0					2																	211518758		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211518758G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3490G>A	2.37:g.211518758G>A	ENSP00000233072:p.Val1164Met					CPS1_ENST00000451903.2_Missense_Mutation_p.V713M|CPS1_ENST00000430249.2_Missense_Mutation_p.V1170M	p.V1164M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	29	3686	+			1164			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3490G>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523441	0.85600	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97906	-4.6;-4.6;-4.6	5.77	5.77	0.91146	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.95611	3.695	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98979	1.0804	10	0.87932	D	0	-8.651	20.3472	0.98799	0.0:0.0:1.0:0.0	.	1174;1164	Q59HF8;P31327	.;CPSM_HUMAN	M	1170;1172;1164;713	ENSP00000402608:V1170M;ENSP00000233072:V1164M;ENSP00000406136:V713M	ENSP00000233072:V1164M	V	+	1	0	CPS1	211227003	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.580000	0.90784	2.890000	0.99128	0.650000	0.86243	GTG		0.423	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			15	73	0	0	0	1	0	15	73				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	31	0	0	0	1	0	3	31				
PCDHB6	56130	broad.mit.edu	37	5	140530897	140530897	+	Silent	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr5:140530897C>T	ENST00000231136.1	+	1	1059	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	PCDHB6_ENST00000543635.1_Silent_p.L217L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	353	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCATCAGCCTCATCCCAGAAA	0.458																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1057-1059)ctC>ctT									109.0	101.0	104.0					5																	140530897		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530897C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1059C>T	5.37:g.140530897C>T						PCDHB6_ENST00000543635.1_Silent_p.L217L	p.L353L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1059	+			353			Cadherin 4.		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1059C>T	CCDS4248.1																																																																																				0.458	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		13	47	0	0	0	1	0	13	47				
MYH8	4626	broad.mit.edu	37	17	10295860	10295860	+	Splice_Site	SNP	T	T	C			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr17:10295860T>C	ENST00000403437.2	-	38	5661	c.5567A>G	c.(5566-5568)cAg>cGg	p.Q1856R	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1856					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCCTTTACCTGGTAGGTGAG	0.408									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.e38+1		myosin, heavy chain 8, skeletal muscle, perinatal							168.0	156.0	160.0					17																	10295860		2202	4300	6502	SO:0001630	splice_region_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10295860T>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5568+1A>G	17.37:g.10295860T>C						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.Q1856_splice	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			38	5661	-			1856					Q14910	Splice_Site	SNP	ENST00000403437.2	37	c.5568_splice	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.001937	0.93227	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.81247	-1.47	5.03	5.03	0.67393	Myosin tail (1);	0.000000	0.39759	U	0.001269	D	0.88265	0.6390	M	0.92077	3.27	0.54753	D	0.999985	B	0.32188	0.359	B	0.42653	0.394	D	0.89943	0.4074	10	0.87932	D	0	.	14.9443	0.71016	0.0:0.0:0.0:1.0	.	1856	P13535	MYH8_HUMAN	R	1856	ENSP00000384330:Q1856R	ENSP00000252173:Q1856R	Q	-	2	0	MYH8	10236585	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.825000	0.86693	2.110000	0.64415	0.528000	0.53228	CAG		0.408	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	Missense_Mutation	6	100	0	0	0	1	0	6	100				
ZNF83	55769	broad.mit.edu	37	19	53122295	53122295	+	5'UTR	SNP	A	A	G	rs11669959	byFrequency	TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:53122295A>G	ENST00000544146.1	-	0	188				ZNF83_ENST00000600714.1_Silent_p.D12D|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000601257.1_Silent_p.D12D|ZNF83_ENST00000596930.1_Silent_p.D12D|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000597161.1_Silent_p.D12D|ZNF83_ENST00000594682.2_Silent_p.D12D|ZNF83_ENST00000541777.2_5'Flank	NM_001105549.1	NP_001099019.1	P51522	ZNF83_HUMAN	zinc finger protein 83						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTATGGCCACATCCCTGAATG	0.433																																						ENST00000600714.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(34-36)gaT>gaC		zinc finger protein 83																																				SO:0001623	5_prime_UTR_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53122295A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000544146.1:c.-554T>C	19.37:g.53122295A>G						ZNF83_ENST00000596930.1_Silent_p.D12D|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000597161.1_Silent_p.D12D|ZNF83_ENST00000601257.1_Silent_p.D12D|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000597597.1_Intron	p.D12D			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	4	318	-			111					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000544146.1	37	c.36T>C	CCDS12854.1																																																																																				0.433	ZNF83-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018300		4	122	0	0	0	1	0	4	122				
UNC79	57578	broad.mit.edu	37	14	94089082	94089082	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr14:94089082C>G	ENST00000393151.2	+	30	5503	c.5503C>G	c.(5503-5505)Ccc>Gcc	p.P1835A	UNC79_ENST00000553484.1_Missense_Mutation_p.P1857A|UNC79_ENST00000555664.1_Missense_Mutation_p.P1835A|UNC79_ENST00000256339.4_Missense_Mutation_p.P1658A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1835					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCAGATTGTTCCCAGGCAGAG	0.463																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5569-5571)Ccc>Gcc		unc-79 homolog (C. elegans)							69.0	65.0	66.0					14																	94089082		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94089082C>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5503C>G	14.37:g.94089082C>G	ENSP00000376858:p.Pro1835Ala					UNC79_ENST00000256339.4_Missense_Mutation_p.P1658A|UNC79_ENST00000393151.2_Missense_Mutation_p.P1835A|UNC79_ENST00000555664.1_Missense_Mutation_p.P1835A	p.P1857A			Q9P2D8	UNC79_HUMAN			31	5723	+			1835					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.5569C>G		.	.	.	.	.	.	.	.	.	.	C	18.42	3.620292	0.66787	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.35605	1.42;1.3;1.43;1.42	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	L	0.32530	0.975	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	T	0.50988	-0.8762	10	0.54805	T	0.06	-19.8297	19.535	0.95247	0.0:1.0:0.0:0.0	.	1857	C9JQL1	.	A	1658;1835;1857;1835;1857	ENSP00000256339:P1658A;ENSP00000450868:P1835A;ENSP00000451360:P1857A;ENSP00000376858:P1835A	ENSP00000256339:P1658A	P	+	1	0	KIAA1409	93158835	1.000000	0.71417	0.971000	0.41717	0.985000	0.73830	7.487000	0.81328	2.629000	0.89072	0.484000	0.47621	CCC		0.463	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		6	34	0	0	0	1	0	6	34				
SYNGAP1	8831	broad.mit.edu	37	6	33411088	33411088	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr6:33411088A>C	ENST00000418600.2	+	15	2860	c.2759A>C	c.(2758-2760)cAa>cCa	p.Q920P	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.Q920P|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.Q861P	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	920					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCTGCCCAGCAACTGCGAATC	0.677																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2758-2760)cAa>cCa		synaptic Ras GTPase activating protein 1							147.0	141.0	143.0					6																	33411088		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411088A>C	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2759A>C	6.37:g.33411088A>C	ENSP00000403636:p.Gln920Pro					SYNGAP1_ENST00000428982.2_Missense_Mutation_p.Q861P|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.Q920P	p.Q920P	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2860	+			920					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.2759A>C	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	A	17.90	3.502656	0.64298	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.13538	2.58;2.58;2.58	4.45	4.45	0.53987	.	0.456366	0.20234	N	0.096427	T	0.12347	0.0300	N	0.17082	0.46	0.46131	D	0.998885	D;D;D	0.71674	0.989;0.998;0.998	P;D;D	0.78314	0.834;0.991;0.991	T	0.09058	-1.0692	10	0.52906	T	0.07	.	11.7176	0.51663	1.0:0.0:0.0:0.0	.	920;920;920	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	P	920;920;906;861	ENSP00000293748:Q920P;ENSP00000403636:Q920P;ENSP00000412475:Q861P	ENSP00000293748:Q920P	Q	+	2	0	SYNGAP1	33519066	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.323000	0.90002	1.865000	0.54081	0.482000	0.46254	CAA		0.677	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		13	178	0	0	0	1	0	13	178				
PPP4C	5531	broad.mit.edu	37	16	30094161	30094161	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr16:30094161C>T	ENST00000279387.7	+	5	464	c.296C>T	c.(295-297)gCa>gTa	p.A99V	PPP4C_ENST00000561610.1_Missense_Mutation_p.A99V	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	99					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CTGCTGCTGGCACTTAAGGTG	0.617																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(295-297)gCa>gTa		protein phosphatase 4, catalytic subunit							96.0	76.0	83.0					16																	30094161		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30094161C>T		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.296C>T	16.37:g.30094161C>T	ENSP00000279387:p.Ala99Val					PPP4C_ENST00000561610.1_Missense_Mutation_p.A99V	p.A99V	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			5	464	+			99					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.296C>T	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	C	37	6.007233	0.97195	.	.	ENSG00000149923	ENST00000279387	T	0.07567	3.18	5.4	5.4	0.78164	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.14527	0.0351	M	0.68317	2.08	0.80722	D	1	P	0.46784	0.884	B	0.41374	0.355	T	0.00733	-1.1589	10	0.72032	D	0.01	.	18.0958	0.89489	0.0:1.0:0.0:0.0	.	99	P60510	PP4C_HUMAN	V	99	ENSP00000279387:A99V	ENSP00000279387:A99V	A	+	2	0	PPP4C	30001662	1.000000	0.71417	0.994000	0.49952	0.933000	0.57130	5.767000	0.68850	2.813000	0.96785	0.561000	0.74099	GCA		0.617	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		3	37	0	0	0	1	0	3	37				
PRX	57716	broad.mit.edu	37	19	40902691	40902691	+	Missense_Mutation	SNP	A	A	G	rs550446238	byFrequency	TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:40902691A>G	ENST00000324001.7	-	7	1838	c.1568T>C	c.(1567-1569)cTg>cCg	p.L523P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	523	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L523P(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGACACTTTCAGCAGCTGTAC	0.567													A|||	2	0.000399361	0.0015	0.0	5008	,	,		17189	0.0		0.0	False		,,,				2504	0.0					ENST00000324001.7																			1	Substitution - Missense(1)	p.L523P(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1567-1569)cTg>cCg		periaxin							83.0	96.0	91.0					19																	40902691		2202	4300	6502	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902691A>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1568T>C	19.37:g.40902691A>G	ENSP00000326018:p.Leu523Pro					PRX_ENST00000291825.7_3'UTR	p.L523P	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1838	-			523			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1568T>C	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	A	0.220	-1.029187	0.02045	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02121	4.44	4.06	1.9	0.25705	.	0.144240	0.32357	N	0.006204	T	0.00496	0.0016	N	0.00082	-2.215	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47045	-0.9147	10	0.02654	T	1	.	7.7836	0.29078	0.2047:0.0:0.7953:0.0	.	523	Q9BXM0	PRAX_HUMAN	P	523	ENSP00000326018:L523P	ENSP00000326018:L523P	L	-	2	0	PRX	45594531	0.009000	0.17119	0.401000	0.26359	0.052000	0.14988	0.748000	0.26305	0.370000	0.24538	-0.252000	0.11476	CTG		0.567	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		5	172	0	0	0	1	0	5	172				
TBX18	9096	broad.mit.edu	37	6	85472370	85472370	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr6:85472370C>G	ENST00000369663.5	-	2	726	c.389G>C	c.(388-390)gGg>gCg	p.G130A	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	130					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAGAGGGGTCCCGGGCCGGGC	0.697																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(388-390)gGg>gCg		T-box 18							26.0	32.0	30.0					6																	85472370		2197	4282	6479	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85472370C>G	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.389G>C	6.37:g.85472370C>G	ENSP00000358677:p.Gly130Ala					TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR	p.G130A	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	2	726	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	130					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.389G>C	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	2.338	-0.351713	0.05173	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.86366	-2.11	5.74	3.97	0.46021	.	0.853808	0.10534	N	0.663426	T	0.51736	0.1692	N	0.08118	0	0.19775	N	0.999956	B	0.02656	0.0	B	0.01281	0.0	T	0.41893	-0.9483	10	0.10377	T	0.69	.	9.1127	0.36737	0.1466:0.7765:0.0:0.077	.	130	O95935	TBX18_HUMAN	A	45;130	ENSP00000358677:G130A	ENSP00000358677:G130A	G	-	2	0	TBX18	85529089	0.969000	0.33509	0.985000	0.45067	0.295000	0.27426	0.520000	0.22878	0.789000	0.33779	0.561000	0.74099	GGG		0.697	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		6	19	0	0	0	1	0	6	19				
OR4C11	219429	broad.mit.edu	37	11	55371016	55371016	+	Silent	SNP	G	G	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr11:55371016G>T	ENST00000302231.4	-	1	858	c.834C>A	c.(832-834)ccC>ccA	p.P278P		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GATTGAGAAAGGGTGTTCCAA	0.393																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(832-834)ccC>ccA		olfactory receptor, family 4, subfamily C, member 11							68.0	60.0	63.0					11																	55371016		2178	4002	6180	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371016G>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.834C>A	11.37:g.55371016G>T							p.P278P	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	858	-			278					B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.834C>A	CCDS31503.1																																																																																				0.393	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		16	56	1	0	8.00594e-06	1	8.36176e-06	16	56				
ZNF365	22891	broad.mit.edu	37	10	64136655	64136655	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr10:64136655C>T	ENST00000395254.3	+	2	983	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	ZNF365_ENST00000395255.3_Missense_Mutation_p.R235C|ZNF365_ENST00000410046.3_Missense_Mutation_p.R235C|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACTGAGGCAACGCCTGACGGA	0.517																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(703-705)Cgc>Tgc		zinc finger protein 365							74.0	82.0	79.0					10																	64136655		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64136655C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.703C>T	10.37:g.64136655C>T	ENSP00000378674:p.Arg235Cys					ZNF365_ENST00000395255.3_Missense_Mutation_p.R235C|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.R235C	p.R235C	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			2	983	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Missense_Mutation	SNP	ENST00000395254.3	37	c.703C>T	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121915	0.77436	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.36157	1.27;1.27;1.27	5.73	4.83	0.62350	.	0.241182	0.37095	N	0.002244	T	0.56572	0.1994	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;P;P;D	0.65773	0.938;0.855;0.87;0.917	T	0.61237	-0.7103	10	0.72032	D	0.01	.	14.5855	0.68320	0.0:0.93:0.0:0.07	.	235;235;235;250	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	C	235	ENSP00000378674:R235C;ENSP00000378675:R235C;ENSP00000387091:R235C	ENSP00000378674:R235C	R	+	1	0	ZNF365	63806661	1.000000	0.71417	0.981000	0.43875	0.726000	0.41606	4.912000	0.63335	1.426000	0.47256	0.555000	0.69702	CGC		0.517	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		13	52	0	0	0	1	0	13	52				
SV2A	9900	broad.mit.edu	37	1	149885042	149885042	+	Silent	SNP	C	C	T	rs200889129		TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr1:149885042C>T	ENST00000369146.3	-	2	841	c.351G>A	c.(349-351)gcG>gcA	p.A117A	SV2A_ENST00000369145.1_Silent_p.A117A	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	117					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGCCAGGGGCGCCCCATCTG	0.637																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(349-351)gcG>gcA		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						76.0	85.0	82.0					1																	149885042		2203	4300	6503	SO:0001819	synonymous_variant	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885042C>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.351G>A	1.37:g.149885042C>T						SV2A_ENST00000369145.1_Silent_p.A117A	p.A117A	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	841	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		117					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.351G>A	CCDS940.1																																																																																				0.637	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			13	75	0	0	0	1	0	13	75				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		5	14	0	0	0	1	0	5	14				
MYO1H	283446	broad.mit.edu	37	12	109874335	109874335	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr12:109874335G>C	ENST00000431443.2	+	21	2165	c.2165G>C	c.(2164-2166)aGa>aCa	p.R722T	MYO1H_ENST00000310903.5_Missense_Mutation_p.R712T	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	722	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CTAGGAAGGAGAGAATACGTG	0.403																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(2134-2136)aGa>aCa		myosin IH							68.0	66.0	67.0					12																	109874335		1923	4135	6058	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109874335G>C		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2165G>C	12.37:g.109874335G>C	ENSP00000444076:p.Arg722Thr					MYO1H_ENST00000431443.2_Missense_Mutation_p.R722T	p.R712T			B4DNW6	B4DNW6_HUMAN			22	2241	+			0					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.2135G>C		.	.	.	.	.	.	.	.	.	.	G	10.69	1.422531	0.25639	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	T;T	0.73469	-0.75;-0.75	4.95	4.95	0.65309	.	.	.	.	.	T	0.78723	0.4328	M	0.66939	2.045	0.41095	D	0.985626	P	0.51791	0.948	P	0.50708	0.648	T	0.78427	-0.2208	9	0.33141	T	0.24	.	15.6892	0.77436	0.0:0.0:1.0:0.0	.	712	F5H3C6	.	T	712;722	ENSP00000439182:R712T;ENSP00000444076:R722T	ENSP00000439182:R712T	R	+	2	0	MYO1H	108358718	1.000000	0.71417	0.225000	0.23894	0.044000	0.14063	3.763000	0.55257	2.298000	0.77334	0.655000	0.94253	AGA		0.403	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		4	10	0	0	0	1	0	4	10				
CASR	846	broad.mit.edu	37	3	121994724	121994724	+	Silent	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr3:121994724G>A	ENST00000490131.1	+	5	1815	c.1443G>A	c.(1441-1443)gaG>gaA	p.E481E	CASR_ENST00000296154.5_Silent_p.E481E|CASR_ENST00000498619.1_Silent_p.E481E	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	481					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCTTTGATGAGTGTGGTGACC	0.493																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1441-1443)gaG>gaA		calcium-sensing receptor	Cinacalcet(DB01012)						146.0	130.0	136.0					3																	121994724		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121994724G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1443G>A	3.37:g.121994724G>A						CASR_ENST00000296154.5_Silent_p.E481E|CASR_ENST00000490131.1_Silent_p.E481E	p.E481E	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	5	1881	+			481					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.1443G>A	CCDS3010.1																																																																																				0.493	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		20	61	0	0	0	1	0	20	61				
KMT2C	58508	broad.mit.edu	37	7	151874265	151874265	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr7:151874265G>A	ENST00000262189.6	-	38	8491	c.8273C>T	c.(8272-8274)gCa>gTa	p.A2758V	KMT2C_ENST00000355193.2_Missense_Mutation_p.A2758V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2758	Asp-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATCTGTATATGCAATGATATC	0.368																																						ENST00000355193.2																			0											c.(8272-8274)gCa>gTa		lysine (K)-specific methyltransferase 2C							118.0	117.0	117.0					7																	151874265		2203	4299	6502	SO:0001583	missense	58508							g.chr7:151874265G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8273C>T	7.37:g.151874265G>A	ENSP00000262189:p.Ala2758Val					KMT2C_ENST00000262189.6_Missense_Mutation_p.A2758V	p.A2758V							38	8491	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.8273C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766290	0.69878	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.95001	-3.58;-3.52	5.54	5.54	0.83059	.	0.000000	0.46145	D	0.000316	D	0.97303	0.9118	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	D	0.97697	1.0182	10	0.87932	D	0	.	19.4777	0.94995	0.0:0.0:1.0:0.0	.	2758;1819;2758	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	V	2758	ENSP00000262189:A2758V;ENSP00000347325:A2758V	ENSP00000262189:A2758V	A	-	2	0	MLL3	151505198	1.000000	0.71417	0.957000	0.39632	0.944000	0.59088	9.869000	0.99810	2.592000	0.87571	0.650000	0.86243	GCA		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			7	94	0	0	0	1	0	7	94				
RP11-159L20.2	0	broad.mit.edu	37	14	31291081	31291082	+	RNA	INS	-	-	A	rs111525555|rs377310507|rs538462736|rs553783936	byFrequency	TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr14:31291081_31291082insA	ENST00000554665.1	-	0	208																											AAATTAAAAAGAAAAAAAAAAC	0.312																																						ENST00000554665.1																			0																																																			0							g.chr14:31291081_31291082insA																													14.37:g.31291091_31291091dupA														0	208	-									RNA	INS	ENST00000554665.1	37																																																																																						0.312	RP11-159L20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000409699.1			3	6						3	6	---	---	---	---
PTBP1	5725	broad.mit.edu	37	19	808418	808418	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:808418delA	ENST00000349038.4	+	11	1207	c.1134delA	c.(1132-1134)ctafs	p.L378fs	PTBP1_ENST00000356948.6_Frame_Shift_Del_p.L404fs|PTBP1_ENST00000394601.4_Frame_Shift_Del_p.L397fs|PTBP1_ENST00000350092.4_Frame_Shift_Del_p.L44fs	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	378	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAACGCCCTAGTGCAGATGG	0.677																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(1210-1212)ctfs		polypyrimidine tract binding protein 1							23.0	22.0	22.0					19																	808418		2195	4295	6490	SO:0001589	frameshift_variant	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:808418delA	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1134delA	19.37:g.808418delA	ENSP00000014112:p.Leu378fs					PTBP1_ENST00000394601.4_Frame_Shift_Del_p.L397fs|PTBP1_ENST00000349038.4_Frame_Shift_Del_p.L378fs|PTBP1_ENST00000350092.4_Frame_Shift_Del_p.L44fs	p.L404fs	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1635	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	378			RRM 3.		Q9BUQ0	Frame_Shift_Del	DEL	ENST00000349038.4	37	c.1212delA	CCDS32859.1																																																																																				0.677	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			2	4						2	4	---	---	---	---
UBA2	10054	broad.mit.edu	37	19	34919386	34919386	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:34919386delG	ENST00000246548.4	+	1	119	c.49delG	c.(49-51)gggfs	p.G18fs	CTD-2588C8.8_ENST00000592220.1_RNA|UBA2_ENST00000439527.2_5'Flank	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	18					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGCGGTGGCCGGGGGCCGGGT	0.741																																						ENST00000246548.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(49-51)ggfs		ubiquitin-like modifier activating enzyme 2							4.0	6.0	5.0					19																	34919386		1665	3480	5145	SO:0001589	frameshift_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34919386delG	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.49delG	19.37:g.34919386delG	ENSP00000246548:p.Gly18fs						p.G18fs	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		1	119	+	Esophageal squamous(110;0.162)		18					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Frame_Shift_Del	DEL	ENST00000246548.4	37	c.49delG	CCDS12439.1																																																																																				0.741	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		2	4						2	4	---	---	---	---
TMPRSS2	7113	broad.mit.edu	37	21	42843897	42843899	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr21:42843897_42843899delTTG	ENST00000332149.5	-	10	1043_1045	c.909_911delCAA	c.(907-912)aacaat>aat	p.303_304NN>N	TMPRSS2_ENST00000458356.1_In_Frame_Del_p.303_304NN>N|TMPRSS2_ENST00000398585.3_In_Frame_Del_p.340_341NN>N	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	303	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				ATGCCATGGATTGTTAAGAGGTC	0.443			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1018-1023)aat>aa		transmembrane protease, serine 2																																				SO:0001651	inframe_deletion	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42843897_42843899delTTG	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.909_911delCAA	21.37:g.42843897_42843899delTTG	ENSP00000330330:p.Asn304del					TMPRSS2_ENST00000458356.1_In_Frame_Del_p.NN303del|TMPRSS2_ENST00000332149.5_In_Frame_Del_p.NN303del	p.NN340del	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			10	1080_1082	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	303			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	In_Frame_Del	DEL	ENST00000332149.5	37	c.1020_1022delCAA	CCDS33564.1																																																																																				0.443	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			17	61						17	61	---	---	---	---
