#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
AVL9	23080	broad.mit.edu	37	7	32598232	32598232	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr7:32598232T>C	ENST00000318709.4	+	9	892	c.671T>C	c.(670-672)cTt>cCt	p.L224P	AVL9_ENST00000409301.1_Missense_Mutation_p.L224P|AVL9_ENST00000404479.1_Missense_Mutation_p.L224P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	224					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTGTTATCCCTTTTTCCAGGT	0.328																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(670-672)cTt>cCt		AVL9 homolog (S. cerevisiase)							111.0	111.0	111.0					7																	32598232		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32598232T>C	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.671T>C	7.37:g.32598232T>C	ENSP00000315568:p.Leu224Pro					AVL9_ENST00000409301.1_Missense_Mutation_p.L224P|AVL9_ENST00000404479.1_Missense_Mutation_p.L224P	p.L224P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			9	892	+			224					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.671T>C	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366848	0.82463	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.84638	0.5516	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.78314	0.983;0.991;0.946	D	0.88174	0.2866	10	0.87932	D	0	-27.2944	15.2208	0.73310	0.0:0.0:0.0:1.0	.	224;224;224	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	P	224;224;224;224;155	ENSP00000315568:L224P;ENSP00000387011:L224P;ENSP00000385242:L224P;ENSP00000395134:L155P	ENSP00000315568:L224P	L	+	2	0	AVL9	32564757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.632000	0.61311	2.006000	0.58801	0.477000	0.44152	CTT		0.328	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		3	174	0	0	0	0.115264	0	3	174				
GNGT1	2792	broad.mit.edu	37	7	93540201	93540201	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr7:93540201G>C	ENST00000248572.5	+	3	344	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	GNGT1_ENST00000455502.1_3'UTR|GNGT1_ENST00000429473.1_Missense_Mutation_p.E66Q	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	66					cardiac muscle cell apoptotic process (GO:0010659)|cellular response to hypoxia (GO:0071456)|eye photoreceptor cell development (GO:0042462)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TCCCTTCAAGGAGCTCAAAGG	0.348																																						ENST00000248572.5																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6						c.(196-198)Gag>Cag		guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1							61.0	59.0	60.0					7																	93540201		2203	4300	6503	SO:0001583	missense	2792				G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr7:93540201G>C		CCDS5633.1	7q21.3	2008-07-18			ENSG00000127928	ENSG00000127928			4411	protein-coding gene	gene with protein product		189970				8661128	Standard	NM_021955		Approved	GNG1	uc003unc.1	P63211	OTTHUMG00000022908	ENST00000248572.5:c.196G>C	7.37:g.93540201G>C	ENSP00000248572:p.Glu66Gln					GNGT1_ENST00000429473.1_Missense_Mutation_p.E66Q|GNGT1_ENST00000455502.1_3'UTR	p.E66Q	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		3	344	+	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		66					A4D1H2|O43835|Q08447|Q16026|Q6LCP6	Missense_Mutation	SNP	ENST00000248572.5	37	c.196G>C	CCDS5633.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082844	0.94050	.	.	ENSG00000127928	ENST00000248572;ENST00000429473	T;T	0.35789	1.29;1.29	5.75	5.75	0.90469	G-protein gamma domain (5);	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.64956	-0.6285	9	0.66056	D	0.02	-33.4741	19.0975	0.93258	0.0:0.0:1.0:0.0	.	66	P63211	GBG1_HUMAN	Q	66	ENSP00000248572:E66Q;ENSP00000388777:E66Q	ENSP00000248572:E66Q	E	+	1	0	GNGT1	93378137	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.582000	0.90791	2.885000	0.99019	0.655000	0.94253	GAG		0.348	GNGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254718.2	NM_021955		5	84	0	0	0	0.184627	0	5	84				
CPE	1363	broad.mit.edu	37	4	166403472	166403472	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr4:166403472G>A	ENST00000402744.4	+	4	1031	c.751G>A	c.(751-753)Gac>Aac	p.D251N		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	251					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCATGGAGGAGACCTTGTGGC	0.403																																						ENST00000402744.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(751-753)Gac>Aac		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						174.0	155.0	161.0					4																	166403472		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166403472G>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.751G>A	4.37:g.166403472G>A	ENSP00000386104:p.Asp251Asn						p.D251N	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	4	1031	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	251					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.751G>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796907	0.70567	.	.	ENSG00000109472	ENST00000513982;ENST00000402744;ENST00000261510;ENST00000431967;ENST00000511992	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (4);	0.000000	0.85682	D	0.000000	T	0.43100	0.1232	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.40664	-0.9551	10	0.72032	D	0.01	-11.06	19.2265	0.93820	0.0:0.0:1.0:0.0	.	251	P16870	CBPE_HUMAN	N	139;251;215;139;139	ENSP00000424830:D139N;ENSP00000386104:D251N;ENSP00000416601:D139N;ENSP00000423699:D139N	ENSP00000261510:D215N	D	+	1	0	CPE	166622922	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	7.574000	0.82434	2.531000	0.85337	0.650000	0.86243	GAC		0.403	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		4	151	0	0	0	0.150653	0	4	151				
EIF1AX	1964	broad.mit.edu	37	X	20156731	20156731	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chrX:20156731C>T	ENST00000379607.5	-	2	229	c.26G>A	c.(25-27)gGt>gAt	p.G9D	snoU2_19_ENST00000364722.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2-30_ENST00000365012.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTGTTTTTACCTCCTTTACC	0.313																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)gGt>gAt		eukaryotic translation initiation factor 1A, X-linked							143.0	133.0	136.0					X																	20156731		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156731C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.26G>A	X.37:g.20156731C>T	ENSP00000368927:p.Gly9Asp					EIF1AX_ENST00000379593.1_Intron	p.G9D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	229	-			9					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.26G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618536	0.66787	.	.	ENSG00000173674	ENST00000379607	T	0.48201	0.82	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79021	0.4376	H	0.96301	3.8	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.86715	0.1938	9	0.87932	D	0	-11.9247	17.661	0.88193	0.0:1.0:0.0:0.0	.	9	P47813	IF1AX_HUMAN	D	9	ENSP00000368927:G9D	ENSP00000368927:G9D	G	-	2	0	EIF1AX	20066652	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			63	38	0	0	0	0.870114	0	63	38				
SNHG14	104472715	broad.mit.edu	37	15	25332998	25332998	+	RNA	SNP	C	C	T	rs3825775	byFrequency	TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr15:25332998C>T	ENST00000546682.1	+	0	586				SNORD116-20_ENST00000384507.1_lincRNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-18_ENST00000383961.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		AATGTGGTCTCTTATGGGTGA	0.483													c|||	86	0.0171725	0.0038	0.0014	5008	,	,		20779	0.0784		0.0	False		,,,				2504	0.001					ENST00000546682.1																			0																																																			0							g.chr15:25332998C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25332998C>T						SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA		NR_003361.1						0	586	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.483	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			23	42	0	0	0	0.608945	0	23	42				
PPP1R3B	79660	broad.mit.edu	37	8	8998408	8998408	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr8:8998408A>T	ENST00000310455.3	-	2	904	c.754T>A	c.(754-756)Ttg>Atg	p.L252M	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.L252M|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	252					glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GATATTCCCAAATCCGGTCCA	0.498																																						ENST00000310455.3																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(754-756)Ttg>Atg		protein phosphatase 1, regulatory subunit 3B							160.0	157.0	158.0					8																	8998408		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998408A>T	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.754T>A	8.37:g.8998408A>T	ENSP00000308318:p.Leu252Met					PPP1R3B_ENST00000519699.1_Missense_Mutation_p.L252M	p.L252M	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	904	-			252					B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.754T>A	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303228	0.23736	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.46451	0.87;0.87	5.93	2.03	0.26663	.	1.025670	0.07688	N	0.938312	T	0.28995	0.0720	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20538	-1.0272	10	0.30854	T	0.27	-7.3538	5.6581	0.17654	0.706:0.143:0.151:0.0	.	252	Q86XI6	PPR3B_HUMAN	M	252	ENSP00000308318:L252M;ENSP00000428642:L252M	ENSP00000308318:L252M	L	-	1	2	PPP1R3B	9035818	0.790000	0.28787	0.249000	0.24280	0.866000	0.49608	1.598000	0.36740	1.072000	0.40860	0.459000	0.35465	TTG		0.498	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		14	90	0	0	0	0.479597	0	14	90				
ANO4	121601	broad.mit.edu	37	12	101520843	101520843	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr12:101520843C>T	ENST00000392977.3	+	27	3073	c.2863C>T	c.(2863-2865)Ccg>Tcg	p.P955S	ANO4_ENST00000392979.3_Missense_Mutation_p.P920S|ANO4_ENST00000299222.9_Missense_Mutation_p.P475S|ANO4_ENST00000550015.1_Missense_Mutation_p.P475S			Q32M45	ANO4_HUMAN	anoctamin 4	955					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.P920S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAACGAGTGGCCGTGACCATG	0.488										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.P920S(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(2758-2760)Ccg>Tcg		anoctamin 4							98.0	67.0	77.0					12																	101520843		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101520843C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2863C>T	12.37:g.101520843C>T	ENSP00000376703:p.Pro955Ser	HNSCC(74;0.22)				ANO4_ENST00000392977.3_Missense_Mutation_p.P955S|ANO4_ENST00000550015.1_Missense_Mutation_p.P475S|ANO4_ENST00000299222.9_Missense_Mutation_p.P475S	p.P920S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			26	3119	+			955					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2758C>T		.	.	.	.	.	.	.	.	.	.	C	26.6	4.753853	0.89843	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.71698	-0.54;-0.27;-0.59;-0.27	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.80165	-0.1496	10	0.87932	D	0	.	19.9299	0.97115	0.0:1.0:0.0:0.0	.	475;955;920	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	S	920;475;955;475	ENSP00000376705:P920S;ENSP00000299222:P475S;ENSP00000376703:P955S;ENSP00000450192:P475S	ENSP00000299222:P475S	P	+	1	0	ANO4	100044974	1.000000	0.71417	0.998000	0.56505	0.697000	0.40408	7.772000	0.85439	2.769000	0.95229	0.655000	0.94253	CCG		0.488	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		3	46	0	0	0	0.115264	0	3	46				
MYO5C	55930	broad.mit.edu	37	15	52486124	52486124	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr15:52486124T>C	ENST00000261839.7	-	41	5365	c.5204A>G	c.(5203-5205)aAg>aGg	p.K1735R	RP11-430B1.2_ENST00000560518.1_lincRNA|GNB5_ENST00000261837.7_5'Flank	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1735						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AAAGCCTAGCTTGAAACTGCT	0.383																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5203-5205)aAg>aGg		myosin VC							114.0	111.0	112.0					15																	52486124		1822	4083	5905	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52486124T>C	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.5204A>G	15.37:g.52486124T>C	ENSP00000261839:p.Lys1735Arg					RP11-430B1.2_ENST00000560518.1_lincRNA	p.K1735R	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	41	5365	-			1735					Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.5204A>G	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860440	0.51482	.	.	ENSG00000128833	ENST00000261839	D	0.88509	-2.39	4.85	4.85	0.62838	.	0.123458	0.53938	D	0.000041	D	0.85230	0.5649	L	0.54323	1.7	0.80722	D	1	P	0.42827	0.791	B	0.38616	0.277	D	0.83539	0.0095	10	0.20519	T	0.43	.	14.5988	0.68424	0.0:0.0:0.0:1.0	.	1735	Q9NQX4	MYO5C_HUMAN	R	1735	ENSP00000261839:K1735R	ENSP00000261839:K1735R	K	-	2	0	MYO5C	50273416	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	4.129000	0.57957	2.045000	0.60652	0.455000	0.32223	AAG		0.383	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		21	221	0	0	0	0.624587	0	21	221				
SUPT6H	6830	broad.mit.edu	37	17	27008399	27008399	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr17:27008399T>C	ENST00000314616.6	+	12	1758	c.1475T>C	c.(1474-1476)gTc>gCc	p.V492A	SUPT6H_ENST00000347486.4_Missense_Mutation_p.V492A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	492	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CTGAAGCGTGTCAGGGAAGAG	0.468																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1474-1476)gTc>gCc		suppressor of Ty 6 homolog (S. cerevisiae)							79.0	74.0	76.0					17																	27008399		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27008399T>C	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1475T>C	17.37:g.27008399T>C	ENSP00000319104:p.Val492Ala					SUPT6H_ENST00000347486.4_Missense_Mutation_p.V492A	p.V492A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			12	1758	+	Lung NSC(42;0.00431)		492					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.1475T>C	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	T	10.33	1.320635	0.23994	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.05	3.95	0.45737	.	0.190926	0.43579	D	0.000549	T	0.17365	0.0417	N	0.03608	-0.345	0.30719	N	0.748451	B	0.10296	0.003	B	0.08055	0.003	T	0.13495	-1.0507	9	0.07990	T	0.79	-5.4841	10.9619	0.47389	0.0:0.0758:0.0:0.9242	.	492	Q7KZ85	SPT6H_HUMAN	A	492	.	ENSP00000319104:V492A	V	+	2	0	SUPT6H	24032526	1.000000	0.71417	0.973000	0.42090	0.991000	0.79684	5.046000	0.64226	1.884000	0.54569	0.533000	0.62120	GTC		0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		3	92	0	0	0	0.115264	0	3	92				
CLIP3	25999	broad.mit.edu	37	19	36509847	36509847	+	Missense_Mutation	SNP	C	C	T	rs368502619		TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr19:36509847C>T	ENST00000360535.4	-	9	1363	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R379Q	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	379					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAAGTCCATCCGGGGGGTCCG	0.612																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1135-1137)cGg>cAg		CAP-GLY domain containing linker protein 3		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	65.0	67.0	66.0		1136,1136	4.9	1.0	19		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CLIP3	NM_001199570.1,NM_015526.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	379/548,379/548	36509847	1,13005	2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36509847C>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1136G>A	19.37:g.36509847C>T	ENSP00000353732:p.Arg379Gln					AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R379Q	p.R379Q	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		9	1363	-	Esophageal squamous(110;0.162)		379					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.1136G>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	35	5.558751	0.96514	0.0	1.16E-4	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.75050	-0.9	4.87	4.87	0.63330	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.67948	-0.5538	10	0.16896	T	0.51	-26.029	15.5566	0.76200	0.0:1.0:0.0:0.0	.	379	Q96DZ5	CLIP3_HUMAN	Q	379;261;355	ENSP00000353732:R379Q	ENSP00000353732:R379Q	R	-	2	0	CLIP3	41201687	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.623000	0.74238	2.558000	0.86282	0.650000	0.86243	CGG		0.612	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		19	135	0	0	0	0.608945	0	19	135				
LAMA5	3911	broad.mit.edu	37	20	60910087	60910087	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr20:60910087A>C	ENST00000252999.3	-	20	2538	c.2472T>G	c.(2470-2472)ttT>ttG	p.F824L	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	824	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGCGGCAGCCAAAATAGTCAG	0.652																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(2470-2472)ttT>ttG		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						61.0	49.0	53.0					20																	60910087		2203	4299	6502	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60910087A>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2472T>G	20.37:g.60910087A>C	ENSP00000252999:p.Phe824Leu						p.F824L	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		20	2538	-	Breast(26;1.57e-08)		824			Laminin EGF-like 10.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.2472T>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246579	0.59103	.	.	ENSG00000130702	ENST00000252999	T	0.52526	0.66	5.1	-6.16	0.02098	EGF-like, laminin (4);	0.050890	0.85682	D	0.000000	T	0.32194	0.0821	L	0.31664	0.95	0.80722	D	1	P	0.42908	0.793	B	0.42386	0.386	T	0.28202	-1.0051	10	0.27082	T	0.32	.	15.345	0.74330	0.705:0.0:0.295:0.0	.	824	O15230	LAMA5_HUMAN	L	824	ENSP00000252999:F824L	ENSP00000252999:F824L	F	-	3	2	LAMA5	60343482	0.045000	0.20229	0.888000	0.34837	0.176000	0.22953	-0.432000	0.06956	-1.019000	0.03358	-2.156000	0.00330	TTT		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	55	0	0	0	0.115264	0	3	55				
TTC14	151613	broad.mit.edu	37	3	180324339	180324339	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr3:180324339C>G	ENST00000296015.4	+	9	1252	c.1120C>G	c.(1120-1122)Cac>Gac	p.H374D	TTC14_ENST00000382584.4_Missense_Mutation_p.H374D|TTC14_ENST00000412756.2_Missense_Mutation_p.H374D	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	374							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTGTCCAACTCACAGAAATGC	0.383																																						ENST00000412756.2																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(1120-1122)Cac>Gac		tetratricopeptide repeat domain 14							119.0	127.0	124.0					3																	180324339		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180324339C>G	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1120C>G	3.37:g.180324339C>G	ENSP00000296015:p.His374Asp					TTC14_ENST00000382584.4_Missense_Mutation_p.H374D|TTC14_ENST00000296015.4_Missense_Mutation_p.H374D	p.H374D	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		9	1189	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		374					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1120C>G	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859364	0.91433	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	T;T;T	0.72942	-0.7;-0.7;-0.7	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85927	0.5811	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;P	0.91635	0.999;0.999;0.82	D	0.85721	0.1325	10	0.56958	D	0.05	-9.1635	20.3465	0.98790	0.0:1.0:0.0:0.0	.	374;374;374	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	D	374	ENSP00000296015:H374D;ENSP00000413743:H374D;ENSP00000372027:H374D	ENSP00000296015:H374D	H	+	1	0	TTC14	181807033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.798000	0.96311	0.655000	0.94253	CAC		0.383	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		4	196	0	0	0	0.150653	0	4	196				
NOP56	10528	broad.mit.edu	37	20	2635156	2635156	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr20:2635156C>T	ENST00000329276.5	+	4	821	c.305C>T	c.(304-306)gCc>gTc	p.A102V	SNORA51_ENST00000606420.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD86_ENST00000391196.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD56_ENST00000413522.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	102					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAGATTGGTGCCGCAATACAG	0.517																																						ENST00000329276.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(304-306)gCc>gTc		NOP56 ribonucleoprotein							118.0	110.0	113.0					20																	2635156		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2635156C>T	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.305C>T	20.37:g.2635156C>T	ENSP00000370589:p.Ala102Val						p.A102V	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			4	821	+			102					Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.305C>T	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623130	0.87460	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.59083	0.29;0.88	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	M	0.66439	2.03	0.80722	D	1	P	0.39022	0.655	B	0.36719	0.231	T	0.63924	-0.6527	10	0.62326	D	0.03	-12.8816	17.5206	0.87786	0.0:1.0:0.0:0.0	.	102	O00567	NOP56_HUMAN	V	102	ENSP00000370589:A102V;ENSP00000388497:A102V	ENSP00000370589:A102V	A	+	2	0	NOP56	2583156	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	7.554000	0.82212	2.725000	0.93324	0.555000	0.69702	GCC		0.517	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		4	185	0	0	0	0.150653	0	4	185				
CHD9	80205	broad.mit.edu	37	16	53243396	53243396	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr16:53243396T>C	ENST00000398510.3	+	2	1542	c.1455T>C	c.(1453-1455)ccT>ccC	p.P485P	CHD9_ENST00000564845.1_Silent_p.P485P|CHD9_ENST00000566029.1_Silent_p.P485P|CHD9_ENST00000447540.1_Silent_p.P485P			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	485					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTCTGTAGCCTCCATCTTCCA	0.343																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(1453-1455)ccT>ccC		chromodomain helicase DNA binding protein 9							33.0	30.0	31.0					16																	53243396		1803	4074	5877	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53243396T>C	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1455T>C	16.37:g.53243396T>C						CHD9_ENST00000398510.3_Silent_p.P485P|CHD9_ENST00000564845.1_Silent_p.P485P|CHD9_ENST00000447540.1_Silent_p.P485P	p.P485P			Q3L8U1	CHD9_HUMAN			3	1664	+		all_cancers(37;0.0212)	485					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.1455T>C																																																																																					0.343	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		3	33	0	0	0	0.150653	0	3	33				
ABCD1	215	broad.mit.edu	37	X	152991197	152991197	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chrX:152991197C>T	ENST00000218104.3	+	1	875	c.476C>T	c.(475-477)gCc>gTc	p.A159V	BCAP31_ENST00000345046.6_5'Flank|BCAP31_ENST00000441714.1_5'Flank|BCAP31_ENST00000458587.2_5'Flank|ABCD1_ENST00000370129.4_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	159	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAACTGGCCCTGTCGTTC	0.647																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(475-477)gCc>gTc		ATP-binding cassette, sub-family D (ALD), member 1							56.0	47.0	50.0					X																	152991197		2202	4300	6502	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:152991197C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.476C>T	X.37:g.152991197C>T	ENSP00000218104:p.Ala159Val						p.A159V	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			1	875	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		159			ABC transmembrane type-1.|Interaction with PEX19.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.476C>T	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385635	0.61956	.	.	ENSG00000101986	ENST00000218104	D	0.95035	-3.59	5.24	5.24	0.73138	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.297872	0.31909	N	0.006869	D	0.96990	0.9017	M	0.86343	2.81	0.80722	D	1	D	0.63046	0.992	D	0.65773	0.938	D	0.97178	0.9849	10	0.59425	D	0.04	-25.2022	11.7198	0.51675	0.0:0.6959:0.3041:0.0	.	159	P33897	ABCD1_HUMAN	V	159	ENSP00000218104:A159V	ENSP00000218104:A159V	A	+	2	0	ABCD1	152644391	1.000000	0.71417	0.988000	0.46212	0.608000	0.37181	1.369000	0.34227	2.183000	0.69458	0.436000	0.28706	GCC		0.647	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		3	39	0	0	0	0.115264	0	3	39				
CDK11A	728642	broad.mit.edu	37	1	1635515	1635515	+	Missense_Mutation	SNP	T	T	A	rs56410233	byFrequency	TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr1:1635515T>A	ENST00000378633.1	-	16	1845	c.1766A>T	c.(1765-1767)cAg>cTg	p.Q589L	CDK11A_ENST00000356200.3_Missense_Mutation_p.Q552L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000495016.1_Intron|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q552L|CDK11A_ENST00000357760.2_Missense_Mutation_p.Q585L|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q576L|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q586L			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	589	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q585L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCGGTACCACTGGGTCACCAC	0.672													-|||	2	0.000399361	0.0	0.0	5008	,	,		14204	0.0		0.002	False		,,,				2504	0.0				Pancreas(186;965 2119 30274 40311 50569)	ENST00000356200.3																			1	Substitution - Missense(1)	p.Q585L(1)	kidney(1)	central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						c.(1654-1656)cAg>cTg		cyclin-dependent kinase 11A		A	LEU/GLN,LEU/GLN	6,4104		0,6,2049	33.0	40.0	38.0		1757,1727	-2.1	0.0	1	dbSNP_129	38	19,8351		0,19,4166	no	missense,missense	CDK11A	NM_024011.2,NM_033529.2	113,113	0,25,6215	AA,AT,TT		0.227,0.146,0.2003	,	586/781,576/771	1635515	25,12455	2055	4185	6240	SO:0001583	missense	728642							g.chr1:1635515T>A	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1766A>T	1.37:g.1635515T>A	ENSP00000367900:p.Gln589Leu					CDK11A_ENST00000357760.2_Missense_Mutation_p.Q585L|CDK11A_ENST00000495016.1_Intron|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q576L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q552L|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q586L|CDK11A_ENST00000378633.1_Missense_Mutation_p.Q589L	p.Q552L							15	1889	-								O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.1655A>T		.	.	.	.	.	.	.	.	.	.	-	0.011	-1.706399	0.00719	0.00146	0.00227	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	2.65	-2.14	0.07123	.	0.064020	0.64402	N	0.000005	T	0.04227	0.0117	N	0.00095	-2.16	0.58432	D	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38779	-0.9645	10	0.02654	T	1	.	1.7711	0.03012	0.422:0.3228:0.0985:0.1567	rs56410233	586;576;203	Q9UQ88-2;Q9UQ88-4;Q9UQ88-5	.;.;.	L	552;586;585;576;589;552;552	ENSP00000348529:Q552L;ENSP00000384442:Q586L;ENSP00000350403:Q585L;ENSP00000351629:Q576L;ENSP00000367900:Q589L;ENSP00000367905:Q552L	ENSP00000348529:Q552L	Q	-	2	0	CDK11A	1625375	0.274000	0.24191	0.023000	0.16930	0.002000	0.02628	2.316000	0.43761	-1.145000	0.02858	-2.430000	0.00215	CAG		0.672	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		4	43	0	0	0	0.184627	0	4	43				
TRMT5	57570	broad.mit.edu	37	14	61442344	61442344	+	Silent	SNP	A	A	C			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr14:61442344A>C	ENST00000261249.6	-	4	1677	c.1293T>G	c.(1291-1293)gtT>gtG	p.V431V	RP11-193F5.1_ENST00000553946.1_RNA|RNU6-398P_ENST00000384143.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CCCTTTGCCGAACATCCTCAG	0.483																																						ENST00000261249.6																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11						c.(1291-1293)gtT>gtG		tRNA methyltransferase 5							103.0	98.0	99.0					14																	61442344		2203	4300	6503	SO:0001819	synonymous_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61442344A>C	AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"""tRNA (guanine(37)-N1)-methyltransferase"""	611023	"""KIAA1393"", ""tRNA methyltransferase 5 homolog (S. cerevisiae)"""	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1293T>G	14.37:g.61442344A>C						RP11-193F5.1_ENST00000553946.1_RNA	p.V431V	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	4	1677	-			431						Silent	SNP	ENST00000261249.6	37	c.1293T>G	CCDS32092.1																																																																																				0.483	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081		8	148	0	0	0	0.335167	0	8	148				
KRTAP13-4	284827	broad.mit.edu	37	21	31802980	31802980	+	Silent	SNP	C	C	A			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr21:31802980C>A	ENST00000334068.2	+	1	409	c.387C>A	c.(385-387)tcC>tcA	p.S129S		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	129						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GTTACGGATCCAGATTCTGCT	0.473																																					NSCLC(196;2401 3038 18004 35753)	ENST00000334068.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						c.(385-387)tcC>tcA		keratin associated protein 13-4							104.0	93.0	97.0					21																	31802980		2203	4300	6503	SO:0001819	synonymous_variant	284827					intermediate filament		g.chr21:31802980C>A	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.387C>A	21.37:g.31802980C>A							p.S129S	NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN			1	409	+			129					A2RRL3	Silent	SNP	ENST00000334068.2	37	c.387C>A	CCDS13592.1																																																																																				0.473	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			8	105	1	0	5.18039e-06	0.278610	6.3136e-06	8	105				
GOLGA4	2803	broad.mit.edu	37	3	37368937	37368937	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr3:37368937C>A	ENST00000361924.2	+	14	5934	c.5560C>A	c.(5560-5562)Caa>Aaa	p.Q1854K	GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1876K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1854	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATTTTGGAGCAAAAGATAAA	0.373																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5560-5562)Caa>Aaa		golgin A4							55.0	57.0	56.0					3																	37368937		2203	4297	6500	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37368937C>A	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5560C>A	3.37:g.37368937C>A	ENSP00000354486:p.Gln1854Lys					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1876K	p.Q1854K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	5934	+			1854			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.5560C>A	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695564	0.48202	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23950	1.88;1.88;1.88	4.71	3.8	0.43715	.	0.269278	0.19838	N	0.104906	T	0.26011	0.0634	M	0.67953	2.075	0.33420	D	0.579738	B;B;B;P	0.35612	0.4;0.4;0.4;0.512	B;B;B;B	0.36464	0.225;0.225;0.225;0.15	T	0.27606	-1.0069	10	0.21014	T	0.42	.	9.9831	0.41826	0.155:0.6954:0.1496:0.0	.	1854;1854;1876;1854	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	1854;1876;1725	ENSP00000354486:Q1854K;ENSP00000349305:Q1876K;ENSP00000405842:Q1725K	ENSP00000349305:Q1876K	Q	+	1	0	GOLGA4	37343941	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.994000	0.40757	2.168000	0.68352	0.549000	0.68633	CAA		0.373	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		4	98	1	0	0.00909568	0.150653	0.0107494	4	98				
BMS1	9790	broad.mit.edu	37	10	43287074	43287074	+	Splice_Site	SNP	G	G	T			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr10:43287074G>T	ENST00000374518.5	+	6	699		c.e6-1			NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTAATGTTTAGGGTGCCAAGC	0.338																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.e6-1		BMS1 ribosome biogenesis factor							49.0	53.0	52.0					10																	43287074		2203	4299	6502	SO:0001630	splice_region_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43287074G>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.637-1G>T	10.37:g.43287074G>T								NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			6	699	+								Q5QPT5|Q86XJ9	Splice_Site	SNP	ENST00000374518.5	37		CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708668	0.68615	.	.	ENSG00000165733	ENST00000374518	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8188	0.96583	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BMS1	42607080	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	9.641000	0.98458	2.678000	0.91216	0.644000	0.83932	.		0.338	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	Intron	4	135	1	0	0.150653	0.150653	0.167871	4	135				
TRPC4	7223	broad.mit.edu	37	13	38357334	38357334	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr13:38357334G>A	ENST00000379705.3	-	2	994	c.137C>T	c.(136-138)gCc>gTc	p.A46V	TRPC4_ENST00000379681.3_Missense_Mutation_p.A46V|TRPC4_ENST00000447043.1_Missense_Mutation_p.A46V|TRPC4_ENST00000379679.1_Missense_Mutation_p.A46V|TRPC4_ENST00000358477.2_Missense_Mutation_p.A46V|TRPC4_ENST00000426868.2_Missense_Mutation_p.A46V|TRPC4_ENST00000379673.2_Missense_Mutation_p.A46V|TRPC4_ENST00000355779.2_Missense_Mutation_p.A46V|TRPC4_ENST00000338947.5_Missense_Mutation_p.A46V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	46					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.A46V(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTGACACTGGCATAATCTCC	0.403																																						ENST00000379705.3																			2	Substitution - Missense(2)	p.A46V(2)	endometrium(2)	NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(136-138)gCc>gTc		transient receptor potential cation channel, subfamily C, member 4							164.0	164.0	164.0					13																	38357334		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38357334G>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.137C>T	13.37:g.38357334G>A	ENSP00000369027:p.Ala46Val					TRPC4_ENST00000358477.2_Missense_Mutation_p.A46V|TRPC4_ENST00000426868.2_Missense_Mutation_p.A46V|TRPC4_ENST00000379679.1_Missense_Mutation_p.A46V|TRPC4_ENST00000338947.5_Missense_Mutation_p.A46V|TRPC4_ENST00000355779.2_Missense_Mutation_p.A46V|TRPC4_ENST00000379673.2_Missense_Mutation_p.A46V|TRPC4_ENST00000379681.3_Missense_Mutation_p.A46V|TRPC4_ENST00000447043.1_Missense_Mutation_p.A46V	p.A46V			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	2	994	-			46					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.137C>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236101	0.79800	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	6.01	6.01	0.97437	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	L	0.35288	1.05	0.58432	D	0.999993	P;P;D;D;P;P	0.54207	0.746;0.846;0.965;0.965;0.746;0.949	B;B;P;P;B;P	0.56865	0.426;0.426;0.639;0.639;0.426;0.808	T	0.68618	-0.5361	10	0.56958	D	0.05	-19.632	20.5211	0.99222	0.0:0.0:1.0:0.0	.	46;46;46;46;46;46	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	V	46	ENSP00000369027:A46V;ENSP00000369003:A46V;ENSP00000342580:A46V;ENSP00000369001:A46V;ENSP00000410133:A46V;ENSP00000348025:A46V;ENSP00000351264:A46V;ENSP00000368995:A46V;ENSP00000414316:A46V	ENSP00000342580:A46V	A	-	2	0	TRPC4	37255334	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.935000	0.87658	2.861000	0.98227	0.650000	0.86243	GCC		0.403	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		5	339	0	0	0	0.184627	0	5	339				
ZNF790	388536	broad.mit.edu	37	19	37309574	37309574	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr19:37309574C>T	ENST00000356725.4	-	5	1792	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	558					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGTTCTGCATCAGTATGAATT	0.358																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(1672-1674)Gat>Aat		zinc finger protein 790							109.0	109.0	109.0					19																	37309574		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37309574C>T	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1672G>A	19.37:g.37309574C>T	ENSP00000349161:p.Asp558Asn					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.D558N	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1792	-	Esophageal squamous(110;0.183)		558						Missense_Mutation	SNP	ENST00000356725.4	37	c.1672G>A	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	5.035	0.192147	0.09599	.	.	ENSG00000197863	ENST00000356725	T	0.60299	0.2	3.18	-0.434	0.12283	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30166	0.0756	N	0.08118	0	0.19300	N	0.999973	B	0.06786	0.001	B	0.04013	0.001	T	0.19128	-1.0315	9	0.66056	D	0.02	.	1.3832	0.02234	0.1712:0.4532:0.1674:0.2083	.	558	Q6PG37	ZN790_HUMAN	N	558	ENSP00000349161:D558N	ENSP00000349161:D558N	D	-	1	0	ZNF790	42001414	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.577000	0.23758	-0.089000	0.12484	-0.282000	0.10007	GAT		0.358	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		8	239	0	0	0	0.278610	0	8	239				
TRAV9-2	28677	broad.mit.edu	37	14	22409767	22409767	+	RNA	SNP	G	G	A			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr14:22409767G>A	ENST00000390441.2	+	0	313									T cell receptor alpha variable 9-2																		GCCACATACCGTAAAGAAACC	0.483																																						ENST00000390441.2																			0																				98.0	93.0	95.0					14																	22409767		1953	4145	6098			0							g.chr14:22409767G>A	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409767G>A														0	313	+									RNA	SNP	ENST00000390441.2	37																																																																																						0.483	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		15	99	0	0	0	0.520397	0	15	99				
OR52N1	79473	broad.mit.edu	37	11	5809691	5809691	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr11:5809691A>G	ENST00000317078.1	-	1	355	c.356T>C	c.(355-357)cTc>cCc	p.L119P	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAGGGCCATGAGCATGAGCAC	0.488																																						ENST00000317078.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(355-357)cTc>cCc		olfactory receptor, family 52, subfamily N, member 1							161.0	141.0	148.0					11																	5809691		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809691A>G	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.356T>C	11.37:g.5809691A>G	ENSP00000322823:p.Leu119Pro					TRIM5_ENST00000380027.1_Intron	p.L119P	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	355	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	119					Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.356T>C	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.841886	0.51057	.	.	ENSG00000181001	ENST00000317078	T	0.03358	3.96	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000414	T	0.16471	0.0396	M	0.85299	2.745	0.48135	D	0.999593	D	0.89917	1.0	D	0.97110	1.0	T	0.00195	-1.1932	10	0.72032	D	0.01	.	5.852	0.18697	0.8165:0.0:0.1835:0.0	.	119	Q8NH53	O52N1_HUMAN	P	119	ENSP00000322823:L119P	ENSP00000322823:L119P	L	-	2	0	OR52N1	5766267	0.002000	0.14202	1.000000	0.80357	0.915000	0.54546	1.787000	0.38704	2.044000	0.60594	0.496000	0.49642	CTC		0.488	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		3	179	0	0	0	0.115264	0	3	179				
PDZD8	118987	broad.mit.edu	37	10	119043929	119043929	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr10:119043929C>T	ENST00000334464.5	-	5	2554	c.2315G>A	c.(2314-2316)cGc>cAc	p.R772H	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	772					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACTCAGATTGCGTAGTGCGGT	0.413																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(2314-2316)cGc>cAc		PDZ domain containing 8							117.0	107.0	111.0					10																	119043929		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043929C>T	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2315G>A	10.37:g.119043929C>T	ENSP00000334642:p.Arg772His					PDZD8_ENST00000482496.1_5'UTR	p.R772H	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2554	-		Colorectal(252;0.19)	772					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2315G>A	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421266	0.42918	.	.	ENSG00000165650	ENST00000334464	D	0.85629	-2.01	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.89065	0.6609	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87465	0.2410	10	0.36615	T	0.2	-9.8292	19.9539	0.97212	0.0:1.0:0.0:0.0	.	772	Q8NEN9	PDZD8_HUMAN	H	772	ENSP00000334642:R772H	ENSP00000334642:R772H	R	-	2	0	PDZD8	119033919	1.000000	0.71417	0.761000	0.31378	0.055000	0.15305	7.818000	0.86416	2.717000	0.92951	0.655000	0.94253	CGC		0.413	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		4	157	0	0	0	0.150653	0	4	157				
SMUG1	23583	broad.mit.edu	37	12	54576295	54576295	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr12:54576295T>A	ENST00000508394.2	-	3	460	c.398A>T	c.(397-399)cAg>cTg	p.Q133L	SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000337581.3_Missense_Mutation_p.Q133L|SMUG1_ENST00000243112.5_Missense_Mutation_p.Q133L|SMUG1_ENST00000514196.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000506595.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000513838.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000401977.2_Missense_Mutation_p.Q133L|SMUG1_ENST00000514685.1_Missense_Mutation_p.Q133L	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	133				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						CACTTCTGACTGTGGGCACTC	0.562								Base excision repair (BER), DNA glycosylases																														ENST00000508394.2																			0				kidney(1)|large_intestine(4)|lung(1)	6						c.(397-399)cAg>cTg	Base excision repair (BER), DNA glycosylases	single-strand-selective monofunctional uracil-DNA glycosylase 1							90.0	90.0	90.0					12																	54576295		2203	4300	6503	SO:0001583	missense	23583				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity	g.chr12:54576295T>A	AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.398A>T	12.37:g.54576295T>A	ENSP00000424191:p.Gln133Leu					SMUG1_ENST00000243112.5_Missense_Mutation_p.Q133L|SMUG1_ENST00000514196.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000514685.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000513838.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000337581.3_Missense_Mutation_p.Q133L|SMUG1_ENST00000506595.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000401977.2_Missense_Mutation_p.Q133L	p.Q133L	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN			3	460	-			133	Missing (in Ref. 3; BAC03670).				A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	c.398A>T	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.085929	0.55861	.	.	ENSG00000123415	ENST00000506595;ENST00000514685;ENST00000337581;ENST00000508394;ENST00000513838;ENST00000243112;ENST00000401977;ENST00000514196;ENST00000504338	T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	4.86	4.86	0.63082	Uracil-DNA glycosylase-like (3);	0.376195	0.30840	N	0.008765	T	0.44705	0.1306	L	0.60455	1.87	0.80722	D	1	P;P	0.48016	0.904;0.895	P;B	0.44422	0.449;0.335	T	0.50575	-0.8812	10	0.66056	D	0.02	.	13.7757	0.63053	0.0:0.0:0.0:1.0	.	133;133	Q53HV7;Q53HV7-2	SMUG1_HUMAN;.	L	133	ENSP00000421206:Q133L;ENSP00000421139:Q133L;ENSP00000338606:Q133L;ENSP00000424191:Q133L;ENSP00000423629:Q133L;ENSP00000243112:Q133L;ENSP00000384828:Q133L;ENSP00000425974:Q133L;ENSP00000423083:Q133L	ENSP00000243112:Q133L	Q	-	2	0	SMUG1	52862562	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.387000	0.52501	1.957000	0.56846	0.460000	0.39030	CAG		0.562	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		20	313	0	0	0	0.557998	0	20	313				
MICAL1	64780	broad.mit.edu	37	6	109769507	109769507	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr6:109769507A>G	ENST00000358807.3	-	13	2065	c.1754T>C	c.(1753-1755)gTg>gCg	p.V585A	MICAL1_ENST00000358577.3_Missense_Mutation_p.V499A|MICAL1_ENST00000368952.4_Missense_Mutation_p.V604A	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	585	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGCAGACACCACCGGTGTGAT	0.607																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1810-1812)gTg>gCg		microtubule associated monooxygenase, calponin and LIM domain containing 1							173.0	161.0	165.0					6																	109769507		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109769507A>G	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1754T>C	6.37:g.109769507A>G	ENSP00000351664:p.Val585Ala					MICAL1_ENST00000358807.3_Missense_Mutation_p.V585A|MICAL1_ENST00000358577.3_Missense_Mutation_p.V499A	p.V604A			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	13	2101	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	585			CH.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.1811T>C	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724524	0.68959	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	D;D;D	0.95482	-3.72;-3.72;-3.72	5.38	5.38	0.77491	Calponin homology domain (5);	0.148043	0.45361	D	0.000380	D	0.95778	0.8626	M	0.75085	2.285	0.38677	D	0.952446	B;B;B	0.28291	0.172;0.172;0.206	P;B;P	0.46940	0.45;0.397;0.532	D	0.96032	0.9017	10	0.66056	D	0.02	.	13.3412	0.60545	1.0:0.0:0.0:0.0	.	604;499;585	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	A	585;604;499;109	ENSP00000351664:V585A;ENSP00000357948:V604A;ENSP00000351385:V499A	ENSP00000351385:V499A	V	-	2	0	MICAL1	109876200	0.994000	0.37717	0.329000	0.25429	0.850000	0.48378	6.901000	0.75693	2.044000	0.60594	0.459000	0.35465	GTG		0.607	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		7	392	0	0	0	0.335167	0	7	392				
THOC5	8563	broad.mit.edu	37	22	29939458	29939458	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr22:29939458G>A	ENST00000490103.1	-	4	436	c.314C>T	c.(313-315)gCc>gTc	p.A105V	THOC5_ENST00000397871.1_Missense_Mutation_p.A105V|THOC5_ENST00000397872.1_Missense_Mutation_p.A105V|THOC5_ENST00000397873.2_Missense_Mutation_p.A105V	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	105	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTGATGTGGGCTAATCGGTT	0.438																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(313-315)gCc>gTc		THO complex 5							167.0	164.0	165.0					22																	29939458		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29939458G>A	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.314C>T	22.37:g.29939458G>A	ENSP00000420306:p.Ala105Val					THOC5_ENST00000397871.1_Missense_Mutation_p.A105V|THOC5_ENST00000397872.1_Missense_Mutation_p.A105V|THOC5_ENST00000397873.2_Missense_Mutation_p.A105V	p.A105V	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			4	436	-			105			Interaction with CSF1R (By similarity).|Interaction with THOC7.		O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.314C>T	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399741	0.96030	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000455450;ENST00000428374	T;T;T;T;T	0.49139	1.77;1.77;1.77;1.77;0.79	5.62	5.62	0.85841	.	0.053583	0.85682	D	0.000000	T	0.53626	0.1808	L	0.47190	1.495	0.80722	D	1	P;P	0.45715	0.865;0.811	B;P	0.48270	0.441;0.572	T	0.51988	-0.8635	10	0.49607	T	0.09	-13.4461	19.6484	0.95791	0.0:0.0:1.0:0.0	.	105;105	F8WCP5;Q13769	.;THOC5_HUMAN	V	105;105;105;105;105;101;105	ENSP00000420306:A105V;ENSP00000380970:A105V;ENSP00000380969:A105V;ENSP00000380971:A105V;ENSP00000415425:A101V	ENSP00000444493:A105V	A	-	2	0	THOC5	28269458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.646000	0.89796	0.557000	0.71058	GCC		0.438	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		4	168	0	0	0	0.184627	0	4	168				
LINC00613	100507528	broad.mit.edu	37	4	136806779	136806782	+	lincRNA	DEL	TGTG	TGTG	-			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr4:136806779_136806782delTGTG	ENST00000504365.1	-	0	120					NR_103762.1				long intergenic non-protein coding RNA 613																		GAATACATCCtgtgtgtgtgtgtg	0.426																																						ENST00000504365.1																			0																																																			0							g.chr4:136806779_136806782delTGTG	AW237894		4q28.3	2012-10-12			ENSG00000248330	ENSG00000248330		"""Long non-coding RNAs"""	44060	non-coding RNA	RNA, long non-coding							Standard	NR_103762		Approved				OTTHUMG00000161224		4.37:g.136806787_136806790delTGTG								NR_103762.1						0	120	-									RNA	DEL	ENST00000504365.1	37																																																																																						0.426	LINC00613-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000364206.1			2	4						2	4	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		3	4						3	4	---	---	---	---
TBC1D3P5	440419	broad.mit.edu	37	17	25754047	25754047	+	RNA	DEL	T	T	-			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr17:25754047delT	ENST00000586223.1	+	0	1595					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		GACGCTGTTCTTttttttttt	0.453																																						ENST00000586223.1																			0																																																			0							g.chr17:25754047delT			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25754047delT								NR_033892.1						0	1595	+									RNA	DEL	ENST00000586223.1	37																																																																																						0.453	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		3	6						3	6	---	---	---	---
