#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
HOXB5	3215	broad.mit.edu	37	17	46670514	46670514	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:46670514G>T	ENST00000239151.5	-	1	809	c.531C>A	c.(529-531)ttC>ttA	p.F177L	HOXB3_ENST00000460160.1_5'Flank|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000476342.1_5'Flank|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB3_ENST00000498678.1_5'Flank|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB3_ENST00000472863.1_5'Flank|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000474324.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	177					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						TCATCCAGGGGAATATTTGCG	0.597																																						ENST00000239151.5											0			large_intestine(1)|lung(2)	3						c.(529-531)ttC>ttA	homeobox B5						42.0	46.0	45.0					17																	46670514		2202	4299	6501	SO:0001583	missense	3215				nucleus	sequence-specific DNA binding	g.chr17:46670514G>T			CCDS11530.1	CCDS11530.1	17q21.32	2011-06-20	2005-12-22		2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075	ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	"""Homeoboxes / ANTP class : HOXL subclass"""	5116	5116	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142960	142960	"""homeo box B5"""	HOX2, HOX2A	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	1973146, 1358459	Standard	Standard	NM_002147	NM_002147		Approved		uc002inr.3	uc002inr.3	P09067	P09067	OTTHUMG00000159913	OTTHUMG00000159913	ENST00000239151.5:c.531C>A	17.37:g.46670514G>T	ENSP00000239151:p.Phe177Leu		HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA	p.F177L	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN			1	809	-			177		B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.531C>A	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365987	0.61513	.	.	ENSG00000120075	ENST00000239151	D	0.92299	-3.01	5.31	2.24	0.28232	5.31	2.24	0.28232	Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90779	0.7105	M	0.72118	2.19	0.80722	D	1	P	0.46220	0.874	P	0.45343	0.477	D	0.88839	0.3311	10	0.87932	D	0	.	8.0276	0.30446	0.3178:0.0:0.6822:0.0	.	177	P09067	HXB5_HUMAN	L	177	ENSP00000239151:F177L	ENSP00000239151:F177L	F	-	3	2	2	HOXB5	44025513	44025513	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.272000	0.43373	0.615000	0.30124	0.455000	0.32223	TTC		0.597	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2		13.722984	27	27	80	80			7	16.844763	16.844763	29	0.194444	1	0	0.000442599	1	0.000442599	7	29	0.194444
KRTAP9-3	83900	broad.mit.edu	37	17	39389143	39389143	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:39389143C>G	ENST00000411528.2	+	1	429	c.390C>G	c.(388-390)tgC>tgG	p.C130W		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	130	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGCCCTGCTGCCGCCCAGCCT	0.582																																						ENST00000411528.2											0			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(388-390)tgC>tgG	keratin associated protein 9-3						105.0	129.0	121.0					17																	39389143		2101	4297	6398	SO:0001583	missense	83900				keratin filament	protein binding	g.chr17:39389143C>G	AJ406947	AJ406947	CCDS11385.1	CCDS11385.1	17q21.2	2013-06-25			2013-06-25			ENSG00000204873	ENSG00000204873	ENSG00000204873	ENSG00000204873		"""Keratin associated proteins"""	"""Keratin associated proteins"""	16927	16927	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11279113	11279113	Standard	Standard	NM_031962	NM_031962		Approved	KAP9.3	uc021txg.1	uc021txg.1	Q9BYQ3	Q9BYQ3	OTTHUMG00000133427	OTTHUMG00000133427	ENST00000411528.2:c.390C>G	17.37:g.39389143C>G	ENSP00000392189:p.Cys130Trp			p.C130W	NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	429	+		Breast(137;0.000496)	130	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].		Missense_Mutation	SNP	ENST00000411528.2	37	c.390C>G	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	15.41	2.826248	0.50739	.	.	ENSG00000204873	ENST00000411528	T	0.02812	4.15	2.67	1.65	0.23941	2.67	1.65	0.23941	.	.	.	.	.	T	0.11793	0.0287	M	0.89353	3.025	0.49687	D	0.999811	.	.	.	.	.	.	T	0.00482	-1.1713	7	0.87932	D	0	.	7.0931	0.25295	0.0:0.8388:0.0:0.1612	.	.	.	.	W	130	ENSP00000392189:C130W	ENSP00000392189:C130W	C	+	3	2	2	KRTAP9-3	36642669	36642669	0.271000	0.24162	0.586000	0.28679	0.470000	0.32858	1.211000	0.32382	0.404000	0.25506	0.194000	0.17425	TGC		0.582	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1		93.983883	5	5	138	138			29	94.967162	94.967162	15	0.659091	0	0	0	1	0	29	15	0.659091
HOXB8	3218	broad.mit.edu	37	17	46691904	46691904	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:46691904G>C	ENST00000239144.4	-	1	397	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	HOXB8_ENST00000576562.1_Missense_Mutation_p.Q55E|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	55					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						TAGAACTCCTGGATTTGCGAC	0.662																																						ENST00000239144.4											0			large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(163-165)Cag>Gag	homeobox B8						21.0	23.0	22.0					17																	46691904		2200	4297	6497	SO:0001583	missense	3218				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691904G>C			CCDS11533.1	CCDS11533.1	17q21.32	2011-06-20	2005-12-22		2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068	ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	"""Homeoboxes / ANTP class : HOXL subclass"""	5119	5119	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142963	142963	"""homeo box B8"""	HOX2, HOX2D	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	1973146, 1358459	Standard	Standard	XM_005257286	XM_005257286		Approved		uc002inw.3	uc002inw.3	P17481	P17481	OTTHUMG00000159904	OTTHUMG00000159904	ENST00000239144.4:c.163C>G	17.37:g.46691904G>C	ENSP00000239144:p.Gln55Glu		HOXB8_ENST00000576562.1_Missense_Mutation_p.Q55E|HOXB7_ENST00000567101.2_Intron	p.Q55E	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN			1	397	-			55		Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.163C>G	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	g	14.31	2.496902	0.44352	.	.	ENSG00000120068	ENST00000239144	T	0.39592	1.07	2.71	2.71	0.32032	2.71	2.71	0.32032	.	0.000000	0.56097	U	0.000030	T	0.52996	0.1769	M	0.81942	2.565	0.54753	D	0.999983	P	0.45715	0.865	P	0.54706	0.759	T	0.60209	-0.7308	10	0.02654	T	1	.	13.8138	0.63278	0.0:0.0:1.0:0.0	.	55	P17481	HXB8_HUMAN	E	55	ENSP00000239144:Q55E	ENSP00000239144:Q55E	Q	-	1	0	0	HOXB8	44046903	44046903	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.971000	0.93419	1.543000	0.49345	0.290000	0.19541	CAG		0.662	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3		16.845442	-1	-1	24	24			6	17.065144	17.065144	10	0.375000	0	0	0	1	0	6	10	0.375
ZNF182	7569	broad.mit.edu	37	X	47836907	47836907	+	Silent	SNP	A	A	G			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chrX:47836907A>G	ENST00000396965.1	-	7	929	c.579T>C	c.(577-579)caT>caC	p.H193H	ZNF182_ENST00000305127.6_Silent_p.H193H|ZNF182_ENST00000376943.3_Silent_p.H174H	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	193					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)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CATACTCAGTATGGAAGAACA	0.343																																						ENST00000396965.1											0			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(577-579)caT>caC	zinc finger protein 182						64.0	57.0	59.0					X																	47836907		2203	4299	6502	SO:0001819	synonymous_variant	7569			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836907A>G	AK122874, R98366	AK122874, R98366	CCDS35235.1, CCDS35236.1	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	13001	13001	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			314993	314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	8088786, 2014798, 8914609	Standard	Standard	NM_001178099	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	uc004dit.3	P17025	P17025	OTTHUMG00000021460	OTTHUMG00000021460	ENST00000396965.1:c.579T>C	X.37:g.47836907A>G			ZNF182_ENST00000305127.6_Silent_p.H193H|ZNF182_ENST00000376943.3_Silent_p.H174H	p.H193H	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	929	-			193		A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	c.579T>C	CCDS35236.1																																																																																									0.343	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1		32.750269	-50	-50	26	26	NM_006962		10	32.761678	32.761678	9	0.526316	0	0	0	1	0	10	9	0.526316
FASTK	10922	broad.mit.edu	37	7	150776028	150776028	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr7:150776028A>C	ENST00000297532.6	-	3	663	c.586T>G	c.(586-588)Ttg>Gtg	p.L196V	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000482571.1_Missense_Mutation_p.L196V|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.L55V|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	196					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AGGGGCTGCAAAGGGGGAGGT	0.622																																						ENST00000297532.6											0			lung(4)|stomach(2)	6						c.(586-588)Ttg>Gtg	Fas-activated serine/threonine kinase						22.0	21.0	21.0					7																	150776028		2199	4295	6494	SO:0001583	missense	10922			apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150776028A>C			CCDS5918.1, CCDS5919.1, CCDS59088.1	CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			2006-07-06			ENSG00000164896	ENSG00000164896	ENSG00000164896	ENSG00000164896				24676	24676	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606965	606965						7544399, 15572676	7544399, 15572676	Standard	Standard	NM_006712	NM_006712		Approved	FAST	uc003wix.2	uc003wix.2	Q14296	Q14296	OTTHUMG00000158694	OTTHUMG00000158694	ENST00000297532.6:c.586T>G	7.37:g.150776028A>C	ENSP00000297532:p.Leu196Val		FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.L55V|FASTK_ENST00000482571.1_Missense_Mutation_p.L196V	p.L196V	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	3	663	-			196		A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.586T>G	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	A	6.926	0.540501	0.13250	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.33865	2.19;1.95;1.39	4.31	1.08	0.20341	4.31	1.08	0.20341	.	1.099010	0.07232	N	0.862668	T	0.22205	0.0535	N	0.14661	0.345	0.18873	N	0.999987	B;B;B	0.26547	0.152;0.039;0.039	B;B;B	0.29176	0.099;0.034;0.021	T	0.32214	-0.9915	10	0.51188	T	0.08	-30.2411	5.1637	0.15075	0.1336:0.0:0.6618:0.2046	.	196;55;196	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	V	196;196;55;196;196	ENSP00000324817:L55V;ENSP00000297532:L196V;ENSP00000418516:L196V	ENSP00000297530:L196V	L	-	1	2	2	FASTK	150406961	150406961	0.001000	0.12720	0.131000	0.22000	0.191000	0.23601	0.575000	0.23729	0.480000	0.27534	-0.261000	0.10672	TTG		0.622	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2		14.672810	4	4	29	29	NM_006712		5	14.745564	14.745564	7	0.416667	0	0	0	1	0	5	7	0.416667
ACTRT2	140625	broad.mit.edu	37	1	2939192	2939192	+	Silent	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr1:2939192G>A	ENST00000378404.2	+	1	1147	c.942G>A	c.(940-942)cgG>cgA	p.R314R		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	314						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TGGATGACCGGCTTCTCAAGG	0.607																																						ENST00000378404.2											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(940-942)cgG>cgA	actin-related protein T2						50.0	58.0	55.0					1																	2939192		2203	4299	6502	SO:0001819	synonymous_variant	140625				cytoplasm|cytoskeleton		g.chr1:2939192G>A	AF440740, AB057364	AF440740, AB057364	CCDS45.1	CCDS45.1	1p36.3	2008-02-05	2005-11-22		2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717	ENSG00000169717	ENSG00000169717				24026	24026	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608535	608535						11750065, 12243744	11750065, 12243744	Standard	Standard	NM_080431	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	uc001ajz.3	Q8TDY3	Q8TDY3	OTTHUMG00000000562	OTTHUMG00000000562	ENST00000378404.2:c.942G>A	1.37:g.2939192G>A				p.R314R	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	1147	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	314		B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.942G>A	CCDS45.1																																																																																									0.607	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1		75.275826	-5	-5	78	78	NM_080431		25	75.292249	75.292249	27	0.480769	0	0	0	1	0	25	27	0.480769
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		65.022693	-28	-28	84	84	NM_002072		22	67.594207	67.594207	51	0.301370	0	0	0	1	0	22	51	0.30137
RASA2	5922	broad.mit.edu	37	3	141231112	141231112	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr3:141231112A>C	ENST00000452898.1	+	2	276	c.241A>C	c.(241-243)Aaa>Caa	p.K81Q	RASA2_ENST00000286364.3_Missense_Mutation_p.K81Q	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	81	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGTTGTGGAAAAATCTTTAAG	0.284																																						ENST00000286364.3											0			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(241-243)Aaa>Caa	RAS p21 protein activator 2						57.0	60.0	59.0					3																	141231112		2203	4298	6501	SO:0001583	missense	5922			intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141231112A>C	AF115573	AF115573	CCDS3117.1	CCDS3117.1	3q22-q23	2013-01-10			2013-01-10			ENSG00000155903	ENSG00000155903	ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	9872	9872	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601589	601589						8699317	8699317	Standard	Standard	NM_006506	NM_006506		Approved	GAP1M	uc003etz.1	uc003etz.1	Q15283	Q15283	OTTHUMG00000160221	OTTHUMG00000160221	ENST00000452898.1:c.241A>C	3.37:g.141231112A>C	ENSP00000391677:p.Lys81Gln		RASA2_ENST00000452898.1_Missense_Mutation_p.K81Q	p.K81Q			Q15283	RASA2_HUMAN			2	276	+			81	C2 1.	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.241A>C		.	.	.	.	.	.	.	.	.	.	A	23.9	4.468870	0.84533	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.73152	-0.72;-0.72	5.37	5.37	0.77165	5.37	5.37	0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.117590	0.56097	D	0.000030	D	0.84897	0.5574	M	0.85945	2.785	0.53688	D	0.999976	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.969;0.982	D	0.87294	0.2301	10	0.66056	D	0.02	.	14.3518	0.66708	1.0:0.0:0.0:0.0	.	81;81;81	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	Q	81	ENSP00000286364:K81Q;ENSP00000391677:K81Q	ENSP00000286364:K81Q	K	+	1	0	0	RASA2	142713802	142713802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.749000	0.85096	2.033000	0.60031	0.533000	0.62120	AAA		0.284	RASA2-201	KNOWN	basic	protein_coding	protein_coding			60.047636	-11	-11	70	70	NM_006506		18	60.097745	60.097745	21	0.461538	0	0	0	1	0	18	21	0.461538
RARG	5916	broad.mit.edu	37	12	53606945	53606945	+	Silent	SNP	G	G	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr12:53606945G>C	ENST00000425354.2	-	9	1588	c.1101C>G	c.(1099-1101)cgC>cgG	p.R367R	RARG_ENST00000327550.3_Silent_p.R295R|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Silent_p.R345R|RARG_ENST00000338561.5_Silent_p.R356R|RARG_ENST00000394426.1_Silent_p.R367R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	367	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGGCCGCCGGCGCCGGGCGT	0.602											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2											0			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1099-1101)cgC>cgG	retinoic acid receptor, gamma						48.0	47.0	48.0					12																	53606945		2203	4300	6503	SO:0001819	synonymous_variant	5916			canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53606945G>C	M57707	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			2013-01-16			ENSG00000172819	ENSG00000172819	ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	"""Nuclear hormone receptors"""	9866	9866	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180190	180190						1849262	1849262	Standard	Standard	NM_001042728	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	uc001scf.3	P13631	P13631	OTTHUMG00000048077	OTTHUMG00000048077	ENST00000425354.2:c.1101C>G	12.37:g.53606945G>C		993	RARG_ENST00000327550.3_Silent_p.R295R|RARG_ENST00000543726.1_Silent_p.R345R|RARG_ENST00000338561.5_Silent_p.R356R|RARG_ENST00000394426.1_Silent_p.R367R|RARG_ENST00000543762.1_5'UTR	p.R367R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			9	1588	-			367	Ligand-binding.	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	ENST00000425354.2	37	c.1101C>G	CCDS8850.1																																																																																									0.602	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		69.747831	13	13	70	70	NM_000966		22	69.752679	69.752679	23	0.488889	0	0	0	1	0	22	23	0.488889
ZNF180	7733	broad.mit.edu	37	19	44981067	44981067	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr19:44981067G>C	ENST00000221327.4	-	5	1912	c.1631C>G	c.(1630-1632)aCt>aGt	p.T544S	ZNF180_ENST00000592529.1_Missense_Mutation_p.T517S|ZNF180_ENST00000391956.4_Missense_Mutation_p.T519S|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	544					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTCTCTCCAGTGTGAGTTCT	0.423																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4											0			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1630-1632)aCt>aGt	zinc finger protein 180						78.0	78.0	78.0					19																	44981067		2203	4300	6503	SO:0001583	missense	7733			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981067G>C	AF192913	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22		2013-01-08	2006-08-22			ENSG00000167384		ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	12970	12970	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606740	606740	"""zinc finger protein 180 (HHZ168)"""		"""zinc finger protein 180 (HHZ168)"""					Standard	Standard	NM_001288762	NM_001288762		Approved	HHZ168	uc002ozf.4	uc002ozf.4	Q9UJW8	Q9UJW8			ENST00000221327.4:c.1631C>G	19.37:g.44981067G>C	ENSP00000221327:p.Thr544Ser		ZNF180_ENST00000391956.4_Missense_Mutation_p.T519S|ZNF180_ENST00000592529.1_Missense_Mutation_p.T517S	p.T544S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	1912	-		Prostate(69;0.0435)	544		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1631C>G	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148613	0.57151	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24151	1.87;1.87	5.23	4.15	0.48705	5.23	4.15	0.48705	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43416	D	0.000561	T	0.21267	0.0512	N	0.26130	0.795	0.80722	D	1	P;P;P	0.36768	0.513;0.569;0.569	B;B;B	0.38683	0.183;0.279;0.279	T	0.06232	-1.0838	10	0.49607	T	0.09	-11.686	14.7864	0.69806	0.0:0.1447:0.8553:0.0	.	519;543;544	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	S	544;519	ENSP00000221327:T544S;ENSP00000375818:T519S	ENSP00000221327:T544S	T	-	2	0	0	ZNF180	49672907	49672907	1.000000	0.71417	0.970000	0.41538	0.976000	0.68499	3.444000	0.52914	2.437000	0.82529	0.467000	0.42956	ACT		0.423	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1		102.015711	-10	-10	117	117	NM_013256		31	102.318234	102.318234	41	0.430556	0	0	0	1	0	31	41	0.430556
IGF2BP1	10642	broad.mit.edu	37	17	47119660	47119660	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:47119660T>C	ENST00000290341.3	+	9	1332	c.998T>C	c.(997-999)aTc>aCc	p.I333T	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.I194T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	333	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGGGGGCCATCGAGAATTGT	0.532																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(997-999)aTc>aCc	insulin-like growth factor 2 mRNA binding protein 1						118.0	116.0	117.0					17																	47119660		2203	4300	6503	SO:0001583	missense	10642			CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47119660T>C	AF198254	AF198254	CCDS11543.1, CCDS54138.1	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			2013-02-12			ENSG00000159217	ENSG00000159217	ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	"""RNA binding motif (RRM) containing"""	28866	28866	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	"""IGF II mRNA binding protein 1"""	608288	608288						9891060, 11992722	9891060, 11992722	Standard	Standard	NM_001160423	NM_001160423		Approved	IMP-1	uc002iom.3	uc002iom.3	Q9NZI8	Q9NZI8	OTTHUMG00000161173	OTTHUMG00000161173	ENST00000290341.3:c.998T>C	17.37:g.47119660T>C	ENSP00000290341:p.Ile333Thr		IGF2BP1_ENST00000431824.2_Missense_Mutation_p.I194T	p.I333T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			9	1332	+			333	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.998T>C	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597867	0.66332	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.28454	1.61;1.61	5.59	5.59	0.84812	5.59	5.59	0.84812	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.136010	0.56097	D	0.000040	T	0.42223	0.1193	L	0.31157	0.91	0.80722	D	1	P;B	0.40180	0.705;0.18	P;B	0.58780	0.845;0.178	T	0.16394	-1.0404	10	0.33141	T	0.24	-16.2489	15.7197	0.77697	0.0:0.0:0.0:1.0	.	194;333	C9JT33;Q9NZI8	.;IF2B1_HUMAN	T	333;194	ENSP00000290341:I333T;ENSP00000389135:I194T	ENSP00000290341:I333T	I	+	2	0	0	IGF2BP1	44474659	44474659	0.999000	0.42202	0.988000	0.46212	0.972000	0.66771	5.056000	0.64287	2.231000	0.72958	0.533000	0.62120	ATC		0.532	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1		-14.623388	-28	-28	118	118	NM_006546		6	6.617203	6.617203	97	0.058252	0	0	0	1	0	6	97	0.058252
GAP43	2596	broad.mit.edu	37	3	115395065	115395065	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr3:115395065A>C	ENST00000305124.6	+	2	602	c.236A>C	c.(235-237)gAg>gCg	p.E79A	GAP43_ENST00000393780.3_Missense_Mutation_p.E115A	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	79					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GATGGGGTGGAGAAGAAGGGA	0.537																																						ENST00000393780.3											0			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(343-345)gAg>gCg	growth associated protein 43						81.0	78.0	79.0					3																	115395065		2203	4300	6503	SO:0001583	missense	2596			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395065A>C			CCDS33830.1, CCDS46890.1	CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			2013-09-19			ENSG00000172020	ENSG00000172020	ENSG00000172020	ENSG00000172020				4140	4140	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060	162060						3272162, 8231732	3272162, 8231732	Standard	Standard	NM_002045	NM_002045		Approved	B-50, PP46	uc003ebr.2	uc003ebr.2	P17677	P17677	OTTHUMG00000133758	OTTHUMG00000133758	ENST00000305124.6:c.236A>C	3.37:g.115395065A>C	ENSP00000305010:p.Glu79Ala		GAP43_ENST00000305124.6_Missense_Mutation_p.E79A	p.E115A	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	3	812	+			79		A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.344A>C	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.604969	0.28623	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.60920	0.15;0.15	4.62	3.42	0.39159	4.62	3.42	0.39159	Neuromodulin (GAP-43), C-terminal (1);	0.205951	0.42548	N	0.000698	T	0.46964	0.1420	L	0.45228	1.405	0.42532	D	0.993044	B;B	0.25772	0.134;0.006	B;B	0.20767	0.031;0.011	T	0.43212	-0.9405	10	0.46703	T	0.11	-7.7158	10.5671	0.45179	0.6893:0.3107:0.0:0.0	.	115;79	A8K0Y4;P17677	.;NEUM_HUMAN	A	79;115	ENSP00000305010:E79A;ENSP00000377372:E115A	ENSP00000305010:E79A	E	+	2	0	0	GAP43	116877755	116877755	1.000000	0.71417	0.983000	0.44433	0.898000	0.52572	3.627000	0.54252	0.865000	0.35603	0.533000	0.62120	GAG		0.537	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2		56.242453	-19	-19	45	45	NM_002045		19	56.268787	56.268787	21	0.475000	0	0	0	1	0	19	21	0.475
SRRM2	23524	broad.mit.edu	37	16	2818118	2818118	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr16:2818118G>A	ENST00000301740.8	+	11	8138	c.7589G>A	c.(7588-7590)cGg>cAg	p.R2530Q	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2530	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R2530Q(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAAAGGAGCGGCGGAGTtcc	0.632																																						ENST00000301740.8											1	Substitution - Missense(1)	pancreas(1)	breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7588-7590)cGg>cAg	serine/arginine repetitive matrix 2						53.0	48.0	50.0					16																	2818118		2198	4300	6498	SO:0001583	missense	23524				Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2818118G>A	AF201422	AF201422	CCDS32373.1	CCDS32373.1	16p13.3	2012-07-02			2012-07-02			ENSG00000167978	ENSG00000167978	ENSG00000167978	ENSG00000167978				16639	16639	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606032	606032						10668804, 11004489	10668804, 11004489	Standard	Standard	NM_016333	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	uc002crk.3	Q9UQ35	Q9UQ35	OTTHUMG00000177358	OTTHUMG00000177358	ENST00000301740.8:c.7589G>A	16.37:g.2818118G>A	ENSP00000301740:p.Arg2530Gln		SRRM2_ENST00000574593.1_3'UTR	p.R2530Q	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	8138	+			2530	Ser-rich.	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7589G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767753	0.90020	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.77358	-1.09	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000029	T	0.80144	0.4569	N	0.19112	0.55	0.33018	D	0.528436	D	0.69078	0.997	D	0.70227	0.968	D	0.84048	0.0368	10	0.56958	D	0.05	-8.9045	15.8054	0.78501	0.0:0.0:1.0:0.0	.	2530	Q9UQ35	SRRM2_HUMAN	Q	2530;2112;1782	ENSP00000301740:R2530Q	ENSP00000301740:R2530Q	R	+	2	0	0	SRRM2	2758119	2758119	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.739000	0.47409	2.808000	0.96608	0.655000	0.94253	CGG		0.632	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		49.127402	7	7	43	43			15	49.158547	49.158547	13	0.535714	0	0	0	1	0	15	13	0.535714
DEAF1	10522	broad.mit.edu	37	11	679783	679783	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr11:679783G>A	ENST00000382409.3	-	8	1515	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.S255L	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	344					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CAGTGCCCCCGAGGTCGTGAT	0.652																																						ENST00000382409.3											0			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1030-1032)tCg>tTg	DEAF1 transcription factor						65.0	58.0	60.0					11																	679783		2203	4300	6503	SO:0001583	missense	10522			embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:679783G>A	AF049460	AF049460	CCDS31327.1	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030	ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	"""Zinc fingers, MYND-type"""	14677	14677	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602635	602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""		"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	9773984	Standard	Standard	XR_428838	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	uc001lqq.1	O75398	O75398	OTTHUMG00000165363	OTTHUMG00000165363	ENST00000382409.3:c.1031C>T	11.37:g.679783G>A	ENSP00000371846:p.Ser344Leu		DEAF1_ENST00000338675.6_Missense_Mutation_p.S255L|DEAF1_ENST00000525904.1_5'UTR	p.S344L	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	8	1515	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	344		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.1031C>T	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328934	0.60743	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.69561	-0.41	3.37	3.37	0.38596	3.37	3.37	0.38596	.	0.000000	0.64402	D	0.000004	T	0.59128	0.2171	L	0.34521	1.04	0.46954	D	0.999261	D	0.63046	0.992	P	0.45610	0.487	T	0.66752	-0.5844	10	0.66056	D	0.02	-14.6476	14.0456	0.64704	0.0:0.0:1.0:0.0	.	344	O75398	DEAF1_HUMAN	L	344;255;330;267	ENSP00000371846:S344L	ENSP00000341902:S255L	S	-	2	0	0	DEAF1	669783	669783	1.000000	0.71417	0.838000	0.33150	0.153000	0.21895	8.737000	0.91562	1.909000	0.55274	0.460000	0.39030	TCG		0.652	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3		20.119548	-1	-1	40	40	NM_021008		7	20.516316	20.516316	13	0.350000	0	0	0	1	0	7	13	0.35
TPSAB1	7177	broad.mit.edu	37	16	1291302	1291302	+	Silent	SNP	G	G	A	rs376353480		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr16:1291302G>A	ENST00000338844.3	+	3	243	c.210G>A	c.(208-210)ctG>ctA	p.L70L	TPSAB1_ENST00000461509.2_Silent_p.L77L	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	70	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L70L(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				AGTGGGTGCTGACCGCAGCGC	0.706																																						ENST00000461509.2											1	Substitution - coding silent(1)	central_nervous_system(1)	NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(229-231)ctG>ctA	tryptase alpha/beta 1	G		0,4396		0,0,2198	45.0	44.0	44.0		210	1.3	0.9	16		44	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	TPSAB1	NM_003294.3		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		70/276	1291302	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	7177			proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1291302G>A	M33494	M33494	CCDS10431.1	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236	ENSG00000172236	ENSG00000172236				12019	12019	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	2203827, 9920877	Standard	Standard	NM_003294	NM_003294		Approved		uc002ckz.3	uc002ckz.3	Q15661	Q15661	OTTHUMG00000090467	OTTHUMG00000090467	ENST00000338844.3:c.210G>A	16.37:g.1291302G>A			TPSAB1_ENST00000338844.3_Silent_p.L70L	p.L77L			P20231	TRYB2_HUMAN			2	425	+		Hepatocellular(780;0.00369)	70	Peptidase S1.	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	c.231G>A	CCDS10431.1																																																																																									0.706	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1		3.837655	-15	-15	67	67	NM_003294		5	11.575831	11.575831	44	0.102041	0	0	0	1	0	5	44	0.102041
EXOC2	55770	broad.mit.edu	37	6	610103	610103	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr6:610103A>G	ENST00000230449.4	-	7	872	c.737T>C	c.(736-738)cTg>cCg	p.L246P	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	246					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTACTGTTCAGAACATTCTC	0.368																																						ENST00000230449.4											0			breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(736-738)cTg>cCg	exocyst complex component 2						145.0	136.0	139.0					6																	610103		2202	4300	6502	SO:0001583	missense	55770			exocytosis|protein transport			g.chr6:610103A>G	AJ420556	AJ420556	CCDS34327.1	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685	ENSG00000112685	ENSG00000112685				24968	24968	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615329	615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	12575951, 12459492	Standard	Standard	NM_018303	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	uc003mtd.4	Q96KP1	Q96KP1	OTTHUMG00000137437	OTTHUMG00000137437	ENST00000230449.4:c.737T>C	6.37:g.610103A>G	ENSP00000230449:p.Leu246Pro		EXOC2_ENST00000448181.3_Intron	p.L246P	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	7	872	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	246		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.737T>C	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.186355	0.78789	.	.	ENSG00000112685	ENST00000230449	T	0.55760	0.5	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.69833	-0.5038	10	0.87932	D	0	-12.8069	15.5852	0.76475	1.0:0.0:0.0:0.0	.	246	Q96KP1	EXOC2_HUMAN	P	246	ENSP00000230449:L246P	ENSP00000230449:L246P	L	-	2	0	0	EXOC2	555103	555103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.629000	0.90983	2.068000	0.61886	0.533000	0.62120	CTG		0.368	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1		48.544942	7	7	67	67	NM_018303		17	48.688334	48.688334	22	0.435897	0	0	0	1	0	17	22	0.435897
TTF1	7270	broad.mit.edu	37	9	135251526	135251526	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr9:135251526G>C	ENST00000334270.2	-	11	2533	c.2494C>G	c.(2494-2496)Cta>Gta	p.L832V	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	832					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AGCAAAGGTAGAGTCGTCTCA	0.403																																						ENST00000334270.2											0			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2494-2496)Cta>Gta	transcription termination factor, RNA polymerase I						124.0	118.0	120.0					9																	135251526		2203	4300	6503	SO:0001583	missense	7270			negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135251526G>C	BC050734	BC050734	CCDS6948.1, CCDS75925.1	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			2008-02-05			ENSG00000125482	ENSG00000125482	ENSG00000125482	ENSG00000125482				12397	12397	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600777	600777						7597036	7597036	Standard	Standard	NM_007344	NM_007344		Approved		uc004cbl.3	uc004cbl.3	Q15361	Q15361	OTTHUMG00000020836	OTTHUMG00000020836	ENST00000334270.2:c.2494C>G	9.37:g.135251526G>C	ENSP00000333920:p.Leu832Val		TTF1_ENST00000461970.1_5'UTR	p.L832V	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	11	2533	-		Myeloproliferative disorder(178;0.204)	832		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.2494C>G	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352701	0.41700	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11712	2.75	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.380127	0.21668	N	0.070909	T	0.25382	0.0617	L	0.61218	1.895	0.09310	N	1	D	0.67145	0.996	P	0.57620	0.824	T	0.03068	-1.1076	10	0.66056	D	0.02	.	14.4204	0.67180	0.0:0.0:1.0:0.0	.	832	Q15361	TTF1_HUMAN	V	832	ENSP00000333920:L832V	ENSP00000245588:L832V	L	-	1	2	2	TTF1	134241347	134241347	0.871000	0.30034	0.040000	0.18447	0.258000	0.26162	2.307000	0.43682	2.560000	0.86352	0.558000	0.71614	CTA		0.403	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2		58.763229	0	0	65	65	NM_007344		18	59.074531	59.074531	26	0.409091	0	0	0	1	0	18	26	0.409091
PGS1	9489	broad.mit.edu	37	17	76421433	76421433	+	IGR	SNP	T	T	G			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:76421433T>G	ENST00000262764.6	+	0	2201				DNAH17_ENST00000585328.1_Missense_Mutation_p.M4374L|DNAH17_ENST00000586052.1_5'UTR|AC061992.1_ENST00000600087.1_5'Flank|DNAH17_ENST00000389840.5_Missense_Mutation_p.M4402L	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TTACCTTCCATGAAGAGTCCG	0.532																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000389840.5											0			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(13204-13206)Atg>Ctg	dynein, axonemal, heavy chain 17						92.0	91.0	91.0					17																	76421433		2203	4300	6503	SO:0001628	intergenic_variant	8632						g.chr17:76421433T>G		AJ000522	CCDS42391.1		17q25.3	2006-02-09			2012-04-19	2006-09-04				ENSG00000187775	ENSG00000187775			"""Axonemal dyneins"""	30029	2946	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614942	610063			"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9880566	9545504	Standard	Standard	XR_243691	NM_173628		Approved	DKFZP762M186	uc002jvm.3	uc010dhp.2	Q32NB8	Q9UFH2				17.37:g.76421433T>G			DNAH17_ENST00000585328.1_Missense_Mutation_p.M4374L|DNAH17_ENST00000586052.1_5'UTR	p.M4402L					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		80	13328	-					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.13204A>C	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683326	0.47991	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.04083	3.71	4.85	4.85	0.62838	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	T	0.03305	0.0096	N	0.05487	-0.04	0.50467	D	0.999872	B	0.16396	0.017	B	0.25291	0.059	T	0.52533	-0.8563	10	0.15952	T	0.53	.	14.6095	0.68507	0.0:0.0:0.0:1.0	.	4374	E7EUM8	.	L	4374;4402	ENSP00000374490:M4402L	ENSP00000300671:M4374L	M	-	1	0	0	DNAH17	73933028	73933028	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.700000	0.84556	2.027000	0.59764	0.482000	0.46254	ATG		0.532	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1		97.838415	17	17	110	110	NM_024419		30	98.416489	98.416489	44	0.405405	0	0	0	1	0	30	44	0.405405
IFIT3	3437	broad.mit.edu	37	10	91099758	91099758	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr10:91099758C>T	ENST00000371818.4	+	2	1526	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A449V|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	449					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTAAGGGATGCCCCTTCAGGC	0.498																																						ENST00000371818.4											0			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(1345-1347)gCc>gTc	interferon-induced protein with tetratricopeptide repeats 3						74.0	75.0	75.0					10																	91099758		2203	4300	6503	SO:0001583	missense	3437			type I interferon-mediated signaling pathway		protein binding	g.chr10:91099758C>T	U52513	U52513	CCDS7402.1, CCDS31241.1	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	"""Tetratricopeptide (TTC) repeat domain containing"""	5411	5411	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604650	604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	9828129, 9391139	Standard	Standard	NM_001031683	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	uc001kgg.3	O14879	O14879	OTTHUMG00000018708	OTTHUMG00000018708	ENST00000371818.4:c.1346C>T	10.37:g.91099758C>T	ENSP00000360883:p.Ala449Val		LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A449V	p.A449V	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	1526	+			449		Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.1346C>T	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734826	0.30774	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.13196	2.61;2.61	4.65	0.621	0.17643	4.65	0.621	0.17643	.	1.124900	0.06953	N	0.814954	T	0.06005	0.0156	N	0.14661	0.345	0.09310	N	1	B	0.26318	0.146	B	0.19148	0.024	T	0.40813	-0.9543	10	0.13853	T	0.58	0.0712	1.3313	0.02136	0.1389:0.3907:0.245:0.2254	.	449	O14879	IFIT3_HUMAN	V	449;449;270	ENSP00000360883:A449V;ENSP00000360876:A449V	ENSP00000360876:A449V	A	+	2	0	0	IFIT3	91089738	91089738	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.216000	0.09266	0.032000	0.15435	-0.140000	0.14226	GCC		0.498	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1		-0.908817	2	2	71	71	NM_001549		3	6.772586	6.772586	38	0.073171	0	0	0	1	0	3	38	0.073171
UMODL1	89766	broad.mit.edu	37	21	43543127	43543127	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr21:43543127G>A	ENST00000408910.2	+	17	3014	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.R1061H|UMODL1_ENST00000400424.2_Missense_Mutation_p.R933H|UMODL1_ENST00000408989.2_Missense_Mutation_p.R1133H	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1005	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ATCCAGAAGCGCTTCCTGCAG	0.637																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400424.2											0			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(2797-2799)cGc>cAc	uromodulin-like 1						86.0	93.0	90.0					21																	43543127		2175	4271	6446	SO:0001583	missense	89766				cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43543127G>A			CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			2008-07-04			ENSG00000177398	ENSG00000177398	ENSG00000177398	ENSG00000177398				12560	12560	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""olfactorin"""	"""olfactorin"""	613859	613859						16026467	16026467	Standard	Standard	NM_173568	NM_173568		Approved		uc002zag.1	uc002zag.1	Q5DID0	Q5DID0	OTTHUMG00000086788	OTTHUMG00000086788	ENST00000408910.2:c.3014G>A	21.37:g.43543127G>A	ENSP00000386147:p.Arg1005His		UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.R1061H|UMODL1_ENST00000408989.2_Missense_Mutation_p.R1133H|UMODL1_ENST00000408910.2_Missense_Mutation_p.R1005H	p.R933H	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN			17	3194	+				EGF-like 3; calcium-binding (Potential).	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.2798G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618443	0.28801	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	3.13	-0.879	0.10613	3.13	-0.879	0.10613	Zona pellucida sperm-binding protein (3);	0.802743	0.10438	N	0.674606	T	0.69486	0.3116	L	0.31294	0.92	0.26420	N	0.976111	B;B	0.21688	0.059;0.039	B;B	0.12156	0.005;0.007	T	0.52071	-0.8624	9	.	.	.	-9.003	7.916	0.29818	0.4938:0.0:0.5062:0.0	.	1133;1005	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	H	1061;933;1133;1005	ENSP00000383279:R1061H;ENSP00000383276:R933H;ENSP00000386126:R1133H;ENSP00000386147:R1005H	.	R	+	2	0	0	UMODL1	42416196	42416196	0.013000	0.17824	0.995000	0.50966	0.959000	0.62525	-0.472000	0.06623	-0.199000	0.10317	0.313000	0.20887	CGC		0.637	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		32.315988	12	12	64	64			11	33.005746	33.005746	21	0.343750	0	0	0	1	0	11	21	0.34375
CDH24	64403	broad.mit.edu	37	14	23522740	23522740	+	Silent	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr14:23522740G>A	ENST00000267383.5	-	6	1283	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	CDH24_ENST00000487137.2_Silent_p.S397S|CDH24_ENST00000397359.3_Silent_p.S397S|CDH24_ENST00000554034.1_Silent_p.S397S			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGTCAGCCGCGGAGATCTGGC	0.637																																						ENST00000397359.3											0			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1189-1191)tcC>tcT	cadherin 24, type 2						37.0	34.0	35.0					14																	23522740		2203	4300	6503	SO:0001819	synonymous_variant	64403			adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23522740G>A	AL137477	AL137477	CCDS9585.1, CCDS9586.1	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880	ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	"""Cadherins / Major cadherins"""	14265	14265	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""cadherin-like 24"""		"""cadherin-like 24"""			12734196	12734196	Standard	Standard	NM_022478	NM_022478		Approved	CDH11L	uc001wil.3	uc001wil.3	Q86UP0	Q86UP0	OTTHUMG00000028715	OTTHUMG00000028715	ENST00000267383.5:c.1191C>T	14.37:g.23522740G>A			CDH24_ENST00000554034.1_Silent_p.S397S|CDH24_ENST00000487137.2_Silent_p.S397S|CDH24_ENST00000267383.5_Silent_p.S397S	p.S397S	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	7	1450	-	all_cancers(95;3.3e-05)		397	Cadherin 4.	D3DS44|Q86UP1|Q9NT84	Silent	SNP	ENST00000267383.5	37	c.1191C>T	CCDS9585.1																																																																																									0.637	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2		43.953647	4	4	32	32	NM_022478		14	44.191605	44.191605	9	0.608696	0	0	0	1	0	14	9	0.608696
MMS22L	253714	broad.mit.edu	37	6	97599676	97599678	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr6:97599676_97599678delTTC	ENST00000275053.4	-	23	3716_3718	c.3451_3453delGAA	c.(3451-3453)gaadel	p.E1151del	MMS22L_ENST00000369251.2_In_Frame_Del_p.E1111del	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1151					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGGAGGAAGGTTCTTCTTCTGAC	0.438																																						ENST00000275053.4											0			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3451-3453)gaadel	MMS22-like, DNA repair protein																																			SO:0001651	inframe_deletion	253714			double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97599676_97599678delTTC			CCDS5039.1	CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263	ENSG00000146263	ENSG00000146263				21475	21475	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615614	615614	"""chromosome 6 open reading frame 167"""	C6orf167	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	21055983, 21055984	Standard	Standard	NM_198468	NM_198468		Approved	dJ39B17.2	uc003ppb.3	uc003ppb.3	Q6ZRQ5	Q6ZRQ5	OTTHUMG00000015248	OTTHUMG00000015248	ENST00000275053.4:c.3451_3453delGAA	6.37:g.97599682_97599684delTTC	ENSP00000275053:p.Glu1151del		MMS22L_ENST00000369251.2_In_Frame_Del_p.E1111del	p.E1151del	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			23	3716_3718	-			1151		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	In_Frame_Del	DEL	ENST00000275053.4	37	c.3451_3453delGAA	CCDS5039.1																																																																																									0.438	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	.	.	-13	-13	224	224	NM_198468		81			152	0.35						81	152	0.35
SLC16A3	9123	broad.mit.edu	37	17	80195168	80195168	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:80195168delC	ENST00000581287.1	+	3	2844	c.522delC	c.(520-522)tacfs	p.Y174fs	SLC16A3_ENST00000392339.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000392341.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000582743.1_Frame_Shift_Del_p.Y174fs	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	174					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	AGGACCGCTACGGCTGGCGGG	0.711																																					Pancreas(52;652 1135 19190 37282 52456)	ENST00000581287.1											0			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(520-522)tacfs	solute carrier family 16 (monocarboxylate transporter), member 3						6.0	6.0	6.0					17																	80195168		2121	4174	6295	SO:0001589	frameshift_variant	9123			blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:80195168delC	U81800	U81800	CCDS11804.1	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526	ENSG00000141526	ENSG00000141526		"""Solute carriers"""	"""Solute carriers"""	10924	10924	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603877	603877	"""solute carrier family 16 (monocarboxylic acid transporters), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"""			9425115	9425115	Standard	Standard	NM_004207	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	uc021ufm.1	O15427	O15427	OTTHUMG00000178832	OTTHUMG00000178832	ENST00000581287.1:c.522delC	17.37:g.80195168delC	ENSP00000463978:p.Tyr174fs		SLC16A3_ENST00000392339.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000392341.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000582743.1_Frame_Shift_Del_p.Y174fs	p.Y174fs	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		3	2844	+	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		174		B3KXG8|Q2M1P8	Frame_Shift_Del	DEL	ENST00000581287.1	37	c.522delC	CCDS11804.1																																																																																									0.711	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	.	.	0	0	8	8	NM_004207		2			4	0.33						2	4	0.33
EFCAB5	374786	broad.mit.edu	37	17	28270612	28270612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:28270612delA	ENST00000394835.3	+	3	327	c.135delA	c.(133-135)gtafs	p.V45fs	EFCAB5_ENST00000541045.1_5'UTR|EFCAB5_ENST00000378738.3_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000536908.2_5'UTR|EFCAB5_ENST00000394832.2_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000534836.2_3'UTR|EFCAB5_ENST00000320856.5_Frame_Shift_Del_p.V45fs	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	45							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACGTTCCTGTAAAAGAGGACA	0.368																																						ENST00000394835.3											0			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(133-135)gtafs	EF-hand calcium binding domain 5						50.0	48.0	48.0					17																	28270612		1852	4095	5947	SO:0001589	frameshift_variant	374786					calcium ion binding	g.chr17:28270612delA	AL833911	AL833911	CCDS11254.2, CCDS54103.1	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			2013-01-10			ENSG00000176927	ENSG00000176927	ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	"""EF-hand domain containing"""	24801	24801	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_198529	NM_198529		Approved	FLJ46247	uc002het.3	uc002het.3	A4FU69	A4FU69	OTTHUMG00000132753	OTTHUMG00000132753	ENST00000394835.3:c.135delA	17.37:g.28270612delA	ENSP00000378312:p.Val45fs		EFCAB5_ENST00000536908.2_5'UTR|EFCAB5_ENST00000320856.5_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000394832.2_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000541045.1_5'UTR|EFCAB5_ENST00000378738.3_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000534836.2_3'UTR	p.V45fs	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN			3	327	+			45		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Frame_Shift_Del	DEL	ENST00000394835.3	37	c.135delA	CCDS11254.2																																																																																									0.368	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	.	.	7	7	14	14	NM_198529		2			4	0.33						2	4	0.33
KY	339855	broad.mit.edu	37	3	134343938	134343938	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr3:134343938delA	ENST00000423778.2	-	6	501	c.440delT	c.(439-441)ctgfs	p.L147fs	KY_ENST00000503669.1_Frame_Shift_Del_p.L147fs|KY_ENST00000508041.1_5'UTR|KY_ENST00000508956.1_Frame_Shift_Del_p.L126fs	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	147					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CTGCAGGTCCAGGGACATGGA	0.567																																						ENST00000508956.1											0			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(376-378)ctgfs	kyphoscoliosis peptidase						67.0	71.0	70.0					3																	134343938		2028	4195	6223	SO:0001589	frameshift_variant	339855				cytoskeleton|Z disc	peptidase activity	g.chr3:134343938delA	AK090526	AK090526	CCDS46920.1	CCDS46920.1	3q22.1	2010-11-23			2010-11-23			ENSG00000174611	ENSG00000174611	ENSG00000174611	ENSG00000174611				26576	26576	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605739	605739								Standard	Standard	NM_178554	NM_178554		Approved	FLJ33207	uc010hty.3	uc010hty.3	Q8NBH2	Q8NBH2	OTTHUMG00000159788	OTTHUMG00000159788	ENST00000423778.2:c.440delT	3.37:g.134343938delA	ENSP00000397598:p.Leu147fs		KY_ENST00000423778.2_Frame_Shift_Del_p.L147fs|KY_ENST00000503669.1_Frame_Shift_Del_p.L147fs|KY_ENST00000508041.1_5'UTR	p.L126fs			Q8NBH2	KY_HUMAN			5	434	-			147		B7Z1S4|Q6ZT15	Frame_Shift_Del	DEL	ENST00000423778.2	37	c.377delT	CCDS46920.1																																																																																									0.567	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	.	.	6	6	10	10	NM_178554		2			4	0.33						2	4	0.33
NUDT1	4521	broad.mit.edu	37	7	2284320	2284320	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr7:2284320delC	ENST00000397046.1	+	3	208	c.111delC	c.(109-111)ggcfs	p.G37fs	NUDT1_ENST00000343985.4_Frame_Shift_Del_p.G60fs|NUDT1_ENST00000397048.1_Frame_Shift_Del_p.G60fs|FTSJ2_ENST00000440306.2_5'Flank|NUDT1_ENST00000356714.1_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000339737.2_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000397049.1_Frame_Shift_Del_p.G60fs|FTSJ2_ENST00000486040.1_5'Flank|FTSJ2_ENST00000242257.8_5'Flank	NM_198950.1	NP_945188.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	78					ATP catabolic process (GO:0006200)|dATP catabolic process (GO:0046061)|dGTP catabolic process (GO:0006203)|DNA protection (GO:0042262)|DNA repair (GO:0006281)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide catabolic process (GO:0006195)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|ATP diphosphatase activity (GO:0047693)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GCTTTGGGGGCAAAGTGCAAG	0.617								Modulation of nucleotide pools																														ENST00000397049.1											0			large_intestine(3)|lung(8)|urinary_tract(1)	12						c.(178-180)ggcfs	nudix (nucleoside diphosphate linked moiety X)-type motif 1						43.0	43.0	43.0					7																	2284320		2203	4300	6503	SO:0001589	frameshift_variant	4521			DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2284320delC	D16581	D16581	CCDS5329.1, CCDS5330.1	CCDS5329.1, CCDS5330.1	7p22	2008-07-18			2008-07-18			ENSG00000106268	ENSG00000106268	ENSG00000106268	ENSG00000106268		"""Nudix motif containing"""	"""Nudix motif containing"""	8048	8048	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""mutT human homolog 1"", ""nudix motif 1"", ""8-oxo-7,8-dihydrodeoxyguanosine triphosphatase"", ""8-oxo-dGTPase"", ""7,8-dihydro-8-oxoguanine triphosphatase"", ""8-oxo-7,8-dihydroguanosine triphosphatase"", ""nucleoside diphosphate-linked moiety X-type motif 1"""	"""mutT human homolog 1"", ""nudix motif 1"", ""8-oxo-7,8-dihydrodeoxyguanosine triphosphatase"", ""8-oxo-dGTPase"", ""7,8-dihydro-8-oxoguanine triphosphatase"", ""8-oxo-7,8-dihydroguanosine triphosphatase"", ""nucleoside diphosphate-linked moiety X-type motif 1"""	600312	600312		MTH1		MTH1		7713494, 8226881	7713494, 8226881	Standard	Standard	NM_002452	NM_002452		Approved		uc003slp.1	uc003slp.1	P36639	P36639	OTTHUMG00000023072	OTTHUMG00000023072	ENST00000397046.1:c.111delC	7.37:g.2284320delC	ENSP00000380239:p.Gly37fs		NUDT1_ENST00000356714.1_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000397046.1_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000339737.2_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000343985.4_Frame_Shift_Del_p.G60fs|NUDT1_ENST00000397048.1_Frame_Shift_Del_p.G60fs	p.G60fs	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	3	282	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	78	Nudix hydrolase.	A4D205|Q6LES7|Q6P0Y6|Q7Z7N6|Q8IV95|Q9UBM0|Q9UBM9	Frame_Shift_Del	DEL	ENST00000397046.1	37	c.180delC	CCDS5330.1																																																																																									0.617	NUDT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206922.1	.	.	-1	-1	14	14	NM_002452		2			4	0.33						2	4	0.33
PROSER2	254427	broad.mit.edu	37	10	11911649	11911649	+	Frame_Shift_Del	DEL	C	C	-	rs559376073	byFrequency	TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr10:11911649delC	ENST00000277570.5	+	4	706	c.552delC	c.(550-552)cacfs	p.H184fs	PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_5'UTR	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	184	Pro-rich.																CGGTGGAGCACCCCAGACTCC	0.701																																						ENST00000277570.5											0										c.(550-552)cacfs	proline and serine-rich protein 2						11.0	12.0	12.0					10																	11911649		2189	4288	6477	SO:0001589	frameshift_variant	254427						g.chr10:11911649delC	BC017269	BC017269	CCDS7085.1	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426	ENSG00000148426	ENSG00000148426				23728	23728	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47	"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	12477932	Standard	Standard	NM_153256	NM_153256		Approved	MGC35403	uc001ikx.3	uc001ikx.3	Q86WR7	Q86WR7	OTTHUMG00000017673	OTTHUMG00000017673	ENST00000277570.5:c.552delC	10.37:g.11911649delC	ENSP00000277570:p.His184fs		PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2_ENST00000379200.1_5'UTR	p.H184fs	NM_153256.3	NP_694988.3					4	706	+					D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Frame_Shift_Del	DEL	ENST00000277570.5	37	c.552delC	CCDS7085.1																																																																																									0.701	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	.	.	-4	-4	7	7	NM_153256		2			4	0.33						2	4	0.33
