#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MRPL3	11222	broad.mit.edu	37	3	131190117	131190117	+	Silent	SNP	A	A	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:131190117A>C	ENST00000264995.3	-	7	783	c.636T>G	c.(634-636)ggT>ggG	p.G212G	MRPL3_ENST00000425847.2_Silent_p.G239G	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	212					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GAAAACCTTTACCAATACTGA	0.403																																						ENST00000264995.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(634-636)ggT>ggG		mitochondrial ribosomal protein L3							94.0	95.0	94.0					3																	131190117		2203	4299	6502	SO:0001819	synonymous_variant	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131190117A>C	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.636T>G	3.37:g.131190117A>C						MRPL3_ENST00000425847.2_Silent_p.G239G	p.G212G	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN			7	783	-			212					Q6IBT2	Silent	SNP	ENST00000264995.3	37	c.636T>G	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.318421	0.23994	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.56	1.38	0.22167	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.6062	4.8182	0.13378	0.64:0.0:0.2176:0.1425	.	.	.	.	E	227	.	.	X	-	1	0	MRPL3	132672807	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.651000	0.24873	0.378000	0.24764	0.528000	0.53228	TAA		0.403	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		3	77	0	0	0	0.150653	0	3	77				
SNHG14	104472715	broad.mit.edu	37	15	25318336	25318336	+	RNA	SNP	G	G	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:25318336G>A	ENST00000549804.2	+	0	817				SNORD116-8_ENST00000384365.1_RNA|SNORD116-11_ENST00000383882.1_RNA|SNORD116-10_ENST00000363791.1_RNA|SNORD116-9_ENST00000384000.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CGTTCTCATCGGAACTGAGGT	0.453																																						ENST00000549804.2																			0																				204.0	177.0	185.0					15																	25318336		876	1991	2867			0							g.chr15:25318336G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25318336G>A						SNORD116-9_ENST00000384000.1_RNA|SNHG14_ENST00000551077.1_RNA								0	817	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.453	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			12	155	0	0	0	0.411799	0	12	155				
VAV1	7409	broad.mit.edu	37	19	6833209	6833209	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:6833209C>T	ENST00000602142.1	+	16	1605	c.1523C>T	c.(1522-1524)cCg>cTg	p.P508L	VAV1_ENST00000599806.1_Missense_Mutation_p.P453L|VAV1_ENST00000304076.2_Missense_Mutation_p.P508L|VAV1_ENST00000596764.1_Missense_Mutation_p.P476L|VAV1_ENST00000539284.1_Missense_Mutation_p.P411L	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	508					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AACATCTATCCGGAGAATGCC	0.438																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1522-1524)cCg>cTg		vav 1 guanine nucleotide exchange factor							44.0	41.0	42.0					19																	6833209		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6833209C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1523C>T	19.37:g.6833209C>T	ENSP00000472929:p.Pro508Leu					VAV1_ENST00000539284.1_Missense_Mutation_p.P411L|VAV1_ENST00000602142.1_Missense_Mutation_p.P508L|VAV1_ENST00000599806.1_Missense_Mutation_p.P453L|VAV1_ENST00000596764.1_Missense_Mutation_p.P476L	p.P508L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			16	1617	+			508					B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1523C>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334250	0.81801	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.88277	-2.36;-2.36	4.85	4.85	0.62838	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.94771	0.8312	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	P;P;D;D	0.75020	0.875;0.863;0.985;0.977	D	0.95337	0.8435	10	0.59425	D	0.04	.	15.4697	0.75432	0.0:1.0:0.0:0.0	.	411;508;453;508	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	L	508;411	ENSP00000302269:P508L;ENSP00000443242:P411L	ENSP00000302269:P508L	P	+	2	0	VAV1	6784209	1.000000	0.71417	0.991000	0.47740	0.730000	0.41778	7.165000	0.77544	2.242000	0.73789	0.650000	0.86243	CCG		0.438	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			16	28	0	0	0	0.500413	0	16	28				
NOP2	4839	broad.mit.edu	37	12	6675419	6675419	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:6675419C>A	ENST00000322166.5	-	5	443	c.322G>T	c.(322-324)Gca>Tca	p.A108S	NOP2_ENST00000537442.1_Missense_Mutation_p.A108S|NOP2_ENST00000382421.3_Missense_Mutation_p.A108S|NOP2_ENST00000541778.1_Missense_Mutation_p.A104S|NOP2_ENST00000545200.1_Missense_Mutation_p.A104S|NOP2_ENST00000399466.2_Missense_Mutation_p.A104S|NOP2_ENST00000542015.1_Intron	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	108					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTGCCAGGTGCTGGGCGCTTC	0.557																																						ENST00000541778.1																			0				breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(310-312)Gca>Tca		NOP2 nucleolar protein							50.0	51.0	51.0					12																	6675419		2001	4171	6172	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6675419C>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.322G>T	12.37:g.6675419C>A	ENSP00000313272:p.Ala108Ser					NOP2_ENST00000399466.2_Missense_Mutation_p.A104S|NOP2_ENST00000382421.3_Missense_Mutation_p.A108S|NOP2_ENST00000322166.5_Missense_Mutation_p.A108S|NOP2_ENST00000545200.1_Missense_Mutation_p.A104S|NOP2_ENST00000537442.1_Missense_Mutation_p.A108S|NOP2_ENST00000542015.1_Intron	p.A104S			P46087	NOP2_HUMAN			5	798	-			108					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.310G>T	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642644	0.47153	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542867;ENST00000536124;ENST00000545492	T;T;T;T;T;T;T;T;T	0.45276	2.49;2.49;2.52;2.47;2.49;2.47;0.92;0.91;0.9	4.63	3.69	0.42338	.	0.224783	0.36101	N	0.002786	T	0.39963	0.1098	L	0.57536	1.79	0.58432	D	0.999997	D;P	0.56521	0.976;0.839	P;B	0.46885	0.53;0.423	T	0.14254	-1.0479	10	0.14656	T	0.56	-13.9518	10.8022	0.46495	0.0:0.8095:0.1905:0.0	.	108;104	Q3KQS4;P46087-2	.;.	S	108;108;104;104;108;104;104;108;108	ENSP00000444437:A108S;ENSP00000371858:A108S;ENSP00000439422:A104S;ENSP00000382392:A104S;ENSP00000313272:A108S;ENSP00000443150:A104S;ENSP00000443035:A104S;ENSP00000442895:A108S;ENSP00000441923:A108S	ENSP00000313272:A108S	A	-	1	0	NOP2	6545680	0.365000	0.25006	0.926000	0.36857	0.978000	0.69477	0.956000	0.29202	2.396000	0.81511	0.591000	0.81541	GCA		0.557	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		4	50	1	0	0.00909568	0.150653	0.00953937	4	50				
PRTG	283659	broad.mit.edu	37	15	55965643	55965643	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:55965643G>T	ENST00000389286.4	-	10	1825	c.1778C>A	c.(1777-1779)gCt>gAt	p.A593D		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCTGGTGGCAGCAGTAATCCG	0.498																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1777-1779)gCt>gAt		protogenin							71.0	73.0	73.0					15																	55965643		1924	4131	6055	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55965643G>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1778C>A	15.37:g.55965643G>T	ENSP00000373937:p.Ala593Asp						p.A593D	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	10	1825	-			593			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000389286.4	37	c.1778C>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437141	0.83885	.	.	ENSG00000166450	ENST00000389286	T	0.77098	-1.07	4.67	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90625	0.7060	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93118	0.6522	10	0.87932	D	0	-19.6813	16.9427	0.86222	0.0:0.0:1.0:0.0	.	593	Q2VWP7	PRTG_HUMAN	D	593	ENSP00000373937:A593D	ENSP00000373937:A593D	A	-	2	0	PRTG	53752935	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	7.561000	0.82288	2.306000	0.77630	0.650000	0.86243	GCT		0.498	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		3	54	1	0	0.115264	0.115264	0.118008	3	54				
RREB1	6239	broad.mit.edu	37	6	7229828	7229828	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:7229828C>T	ENST00000349384.6	+	10	1810	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	RREB1_ENST00000334984.6_Missense_Mutation_p.A499V|RREB1_ENST00000379933.3_Missense_Mutation_p.A499V|RREB1_ENST00000379938.2_Missense_Mutation_p.A499V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	499	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACTGCAGGCGATCTTCAAG	0.642																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1495-1497)gCg>gTg		ras responsive element binding protein 1							127.0	147.0	140.0					6																	7229828		2202	4299	6501	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229828C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1496C>T	6.37:g.7229828C>T	ENSP00000305560:p.Ala499Val					RREB1_ENST00000349384.6_Missense_Mutation_p.A499V|RREB1_ENST00000379933.3_Missense_Mutation_p.A499V|RREB1_ENST00000334984.6_Missense_Mutation_p.A499V	p.A499V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2033	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	499			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1496C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944867	0.34283	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.10573	2.93;2.9;2.93;2.86;3.07	5.67	5.67	0.87782	.	0.388057	0.22170	N	0.063649	T	0.06735	0.0172	L	0.34521	1.04	0.28868	N	0.895158	D;D;D	0.64830	0.959;0.994;0.975	P;P;P	0.47891	0.477;0.492;0.56	T	0.08889	-1.0700	10	0.48119	T	0.1	-34.9532	14.5855	0.68320	0.1459:0.8541:0.0:0.0	.	499;499;499	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	499	ENSP00000369265:A499V;ENSP00000369270:A499V;ENSP00000305560:A499V;ENSP00000335574:A499V;ENSP00000419511:A499V	ENSP00000335574:A499V	A	+	2	0	RREB1	7174827	0.993000	0.37304	0.963000	0.40424	0.678000	0.39670	2.955000	0.49121	2.666000	0.90696	0.561000	0.74099	GCG		0.642	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			37	211	0	0	0	0.853193	0	37	211				
CACNA1G	8913	broad.mit.edu	37	17	48703623	48703623	+	Silent	SNP	A	A	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:48703623A>G	ENST00000359106.5	+	38	6645	c.6645A>G	c.(6643-6645)ttA>ttG	p.L2215L	CACNA1G_ENST00000512389.1_Silent_p.L2111L|CACNA1G_ENST00000429973.2_Silent_p.L2104L|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000515411.1_Silent_p.L2152L|CACNA1G_ENST00000507510.2_Silent_p.L2170L|CACNA1G_ENST00000502264.1_Silent_p.L2144L|CACNA1G_ENST00000507609.1_Silent_p.L2115L|CACNA1G_ENST00000507336.1_Silent_p.L2204L|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000515765.1_Silent_p.L2159L|CACNA1G_ENST00000354983.4_Silent_p.L2181L|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000510115.1_Silent_p.L2136L|CACNA1G_ENST00000510366.1_Silent_p.L2070L|CACNA1G_ENST00000514717.1_Silent_p.L2065L|CACNA1G_ENST00000360761.4_Silent_p.L2099L|CACNA1G_ENST00000514181.1_Silent_p.L2097L|CACNA1G_ENST00000514079.1_Silent_p.L2129L|CACNA1G_ENST00000515165.1_Silent_p.L2122L|CACNA1G_ENST00000352832.5_Silent_p.L2088L|CACNA1G_ENST00000442258.2_Silent_p.L2081L|CACNA1G_ENST00000513964.1_Silent_p.L2077L|CACNA1G_ENST00000503485.1_Silent_p.L2088L|CACNA1G_ENST00000513689.2_Silent_p.L2125L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2215					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGCAGCTTAGAGTTGGACA	0.642											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6262-6264)ttA>ttG		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						43.0	52.0	49.0					17																	48703623		2015	4165	6180	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703623A>G	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6645A>G	17.37:g.48703623A>G			OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000515165.1_Silent_p.L2122L|CACNA1G_ENST00000514717.1_Silent_p.L2065L|CACNA1G_ENST00000514181.1_Silent_p.L2097L|CACNA1G_ENST00000514079.1_Silent_p.L2129L|CACNA1G_ENST00000354983.4_Silent_p.L2181L|CACNA1G_ENST00000442258.2_Silent_p.L2081L|CACNA1G_ENST00000513964.1_Silent_p.L2077L|CACNA1G_ENST00000507510.2_Silent_p.L2170L|CACNA1G_ENST00000510366.1_Silent_p.L2070L|CACNA1G_ENST00000502264.1_Silent_p.L2144L|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000429973.2_Silent_p.L2104L|CACNA1G_ENST00000507609.1_Silent_p.L2115L|CACNA1G_ENST00000503485.1_Silent_p.L2088L|CACNA1G_ENST00000359106.5_Silent_p.L2215L|CACNA1G_ENST00000507336.1_Silent_p.L2204L|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000360761.4_Silent_p.L2099L|CACNA1G_ENST00000512389.1_Silent_p.L2111L|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513689.2_Silent_p.L2125L|CACNA1G_ENST00000515765.1_Silent_p.L2159L|CACNA1G_ENST00000510115.1_Silent_p.L2136L|CACNA1G_ENST00000515411.1_Silent_p.L2152L	p.L2088L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	6636	+	Breast(11;6.7e-17)		2215					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.6264A>G	CCDS45730.1																																																																																				0.642	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		12	24	0	0	0	0.479597	0	12	24				
KIT	3815	broad.mit.edu	37	4	55573431	55573431	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:55573431T>A	ENST00000288135.5	+	6	1190	c.1093T>A	c.(1093-1095)Tct>Act	p.S365T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	365	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTATCCCAAGTCTGAGAATGA	0.403		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1093-1095)Tct>Act		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						85.0	82.0	83.0					4																	55573431		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55573431T>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1093T>A	4.37:g.55573431T>A	ENSP00000288135:p.Ser365Thr						p.S365T	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	6	1190	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		365			Ig-like C2-type 4.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1093T>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	9.206	1.029766	0.19512	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.54866	0.55;0.55	5.84	4.47	0.54385	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.308537	0.28209	N	0.016183	T	0.31482	0.0798	N	0.20445	0.575	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.11891	-1.0569	10	0.13108	T	0.6	.	7.6872	0.28546	0.0:0.0814:0.1428:0.7758	.	365;365	P10721-2;P10721	.;KIT_HUMAN	T	365	ENSP00000288135:S365T;ENSP00000390987:S365T	ENSP00000288135:S365T	S	+	1	0	KIT	55268188	0.995000	0.38212	0.939000	0.37840	0.884000	0.51177	1.694000	0.37752	2.234000	0.73211	0.402000	0.26972	TCT		0.403	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			18	44	0	0	0	0.608945	0	18	44				
OR4M1	441670	broad.mit.edu	37	14	20248557	20248557	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:20248557G>T	ENST00000315957.4	+	1	157	c.76G>T	c.(76-78)Gtc>Ttc	p.V26F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTCCAACTAGTCCTATTTGT	0.388																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(76-78)Gtc>Ttc		olfactory receptor, family 4, subfamily M, member 1							176.0	189.0	185.0					14																	20248557		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248557G>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.76G>T	14.37:g.20248557G>T	ENSP00000319654:p.Val26Phe						p.V26F	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	157	+	all_cancers(95;0.00108)		26					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.76G>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.612998	0.00835	.	.	ENSG00000176299	ENST00000315957	T	0.00446	7.39	4.2	0.235	0.15431	.	0.511302	0.16440	N	0.214335	T	0.00109	0.0003	N	0.01140	-0.99	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24870	-1.0148	10	0.07325	T	0.83	-7.4636	4.3969	0.11367	0.3797:0.1603:0.46:0.0	.	26	Q8NGD0	OR4M1_HUMAN	F	26	ENSP00000319654:V26F	ENSP00000319654:V26F	V	+	1	0	OR4M1	19318397	0.000000	0.05858	0.169000	0.22859	0.641000	0.38312	-0.005000	0.12855	-0.056000	0.13221	0.401000	0.26515	GTC		0.388	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			29	276	1	0	4.40665e-25	0.740014	5.41388e-25	29	276				
ALPK1	80216	broad.mit.edu	37	4	113352721	113352721	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:113352721C>A	ENST00000458497.1	+	11	2297	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H	ALPK1_ENST00000504176.2_Missense_Mutation_p.P595H|ALPK1_ENST00000177648.9_Missense_Mutation_p.P673H	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	673							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCCTTGACACCCTTCTCGCCT	0.493																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(2017-2019)cCc>cAc		alpha-kinase 1							66.0	68.0	67.0					4																	113352721		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113352721C>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2018C>A	4.37:g.113352721C>A	ENSP00000398048:p.Pro673His					ALPK1_ENST00000177648.9_Missense_Mutation_p.P673H|ALPK1_ENST00000504176.2_Missense_Mutation_p.P595H	p.P673H	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	2297	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	673					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.2018C>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264781	0.23136	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02763	4.24;4.24;4.17	3.66	1.84	0.25277	.	0.476061	0.22224	N	0.062910	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	P;P;P	0.42871	0.792;0.574;0.688	B;B;B	0.38020	0.263;0.096;0.135	T	0.50566	-0.8813	10	0.54805	T	0.06	0.2213	8.1361	0.31056	0.1783:0.649:0.1727:0.0	.	595;595;673	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	H	673;673;595	ENSP00000398048:P673H;ENSP00000177648:P673H;ENSP00000426044:P595H	ENSP00000177648:P673H	P	+	2	0	ALPK1	113572170	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.492000	0.06467	0.488000	0.27723	0.609000	0.83330	CCC		0.493	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		14	42	1	0	3.52763e-06	0.520397	3.99179e-06	14	42				
FSTL5	56884	broad.mit.edu	37	4	162577517	162577517	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:162577517T>C	ENST00000306100.5	-	7	1293	c.857A>G	c.(856-858)aAt>aGt	p.N286S	FSTL5_ENST00000379164.4_Missense_Mutation_p.N285S|FSTL5_ENST00000536695.1_Missense_Mutation_p.N285S|FSTL5_ENST00000427802.2_Missense_Mutation_p.N285S|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	286	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAGAATAATATTGTTCCTTTT	0.353																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(856-858)aAt>aGt		follistatin-like 5							56.0	57.0	57.0					4																	162577517		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162577517T>C	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.857A>G	4.37:g.162577517T>C	ENSP00000305334:p.Asn286Ser					FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.N285S|FSTL5_ENST00000427802.2_Missense_Mutation_p.N285S|FSTL5_ENST00000536695.1_Missense_Mutation_p.N285S	p.N286S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	7	1293	-	all_hematologic(180;0.24)		286			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.857A>G	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.931365	0.34096	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.38	4.17	0.49024	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.201770	0.52532	N	0.000073	T	0.65585	0.2705	L	0.35414	1.06	0.39918	D	0.974119	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.002	T	0.61287	-0.7093	10	0.48119	T	0.1	.	8.3351	0.32211	0.0:0.1544:0.0:0.8456	.	285;285;286	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	S	286;285;285;285	ENSP00000305334:N286S;ENSP00000368462:N285S;ENSP00000389270:N285S;ENSP00000440409:N285S	ENSP00000305334:N286S	N	-	2	0	FSTL5	162796967	1.000000	0.71417	0.836000	0.33094	0.982000	0.71751	2.840000	0.48215	0.954000	0.37851	0.528000	0.53228	AAT		0.353	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		13	22	0	0	0	0.435327	0	13	22				
LAMA3	3909	broad.mit.edu	37	18	21474271	21474271	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:21474271A>T	ENST00000313654.9	+	43	5661	c.5420A>T	c.(5419-5421)aAc>aTc	p.N1807I	LAMA3_ENST00000269217.6_Missense_Mutation_p.N198I|AC010754.1_ENST00000408462.1_RNA|LAMA3_ENST00000587184.1_Missense_Mutation_p.N198I|LAMA3_ENST00000399516.3_Missense_Mutation_p.N1807I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1807	Domain III A.|Laminin EGF-like 15; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GACTGCATAAACCAAGAACCC	0.378																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(5419-5421)aAc>aTc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						96.0	94.0	95.0					18																	21474271		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21474271A>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5420A>T	18.37:g.21474271A>T	ENSP00000324532:p.Asn1807Ile					LAMA3_ENST00000269217.6_Missense_Mutation_p.N198I|LAMA3_ENST00000399516.3_Missense_Mutation_p.N1807I|LAMA3_ENST00000587184.1_Missense_Mutation_p.N198I	p.N1807I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			43	5661	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1807			Domain III A.|Laminin EGF-like 15; truncated.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.5420A>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.247612	0.39697	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.19806	2.15;2.12;3.72	5.63	0.342	0.15996	.	.	.	.	.	T	0.14787	0.0357	L	0.38531	1.155	0.35821	D	0.824587	B;B;B;B	0.21225	0.011;0.014;0.053;0.025	B;B;B;B	0.26416	0.008;0.011;0.069;0.035	T	0.13415	-1.0510	9	0.54805	T	0.06	.	4.4503	0.11617	0.6191:0.0:0.242:0.1388	.	198;198;1807;1807	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	I	1807;1807;198	ENSP00000324532:N1807I;ENSP00000382432:N1807I;ENSP00000269217:N198I	ENSP00000269217:N198I	N	+	2	0	LAMA3	19728269	0.013000	0.17824	0.965000	0.40720	0.934000	0.57294	-0.148000	0.10219	0.456000	0.26937	0.533000	0.62120	AAC		0.378	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		4	54	0	0	0	0.217242	0	4	54				
SSTR2	6752	broad.mit.edu	37	17	71166516	71166516	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:71166516C>G	ENST00000357585.2	+	2	1427	c.1058C>G	c.(1057-1059)aCc>aGc	p.T353S	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Intron	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	353					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CTGAATGAGACCACGGAGACC	0.547																																						ENST00000357585.2																			0				endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11						c.(1057-1059)aCc>aGc		somatostatin receptor 2							61.0	56.0	58.0					17																	71166516		2203	4300	6503	SO:0001583	missense	0				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71166516C>G		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.1058C>G	17.37:g.71166516C>G	ENSP00000350198:p.Thr353Ser					SSTR2_ENST00000315332.2_Intron|RP11-143K11.5_ENST00000580671.1_RNA	p.T353S	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	1427	+			353					A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	c.1058C>G	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372014	0.24857	.	.	ENSG00000180616	ENST00000357585	T	0.72167	-0.63	5.19	5.19	0.71726	.	0.116424	0.64402	D	0.000018	T	0.58708	0.2141	N	0.21373	0.66	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.52586	-0.8556	10	0.20519	T	0.43	.	18.677	0.91532	0.0:1.0:0.0:0.0	.	353	P30874	SSR2_HUMAN	S	353	ENSP00000350198:T353S	ENSP00000350198:T353S	T	+	2	0	SSTR2	68678111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.714000	0.68422	2.577000	0.86979	0.655000	0.94253	ACC		0.547	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			11	53	0	0	0	0.361761	0	11	53				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	86	0	0	0	0.184627	0	5	86				
MCC	4163	broad.mit.edu	37	5	112439958	112439958	+	Silent	SNP	G	G	T	rs142794653	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:112439958G>T	ENST00000302475.4	-	5	1115	c.552C>A	c.(550-552)tcC>tcA	p.S184S	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.S121S|MCC_ENST00000408903.3_Silent_p.S374S	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	184					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCTCGGCCACGGAGAGGCTGC	0.572																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(550-552)tcC>tcA		mutated in colorectal cancers							138.0	123.0	128.0					5																	112439958		2202	4300	6502	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112439958G>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.552C>A	5.37:g.112439958G>T						MCC_ENST00000515367.2_Silent_p.S121S|MCC_ENST00000408903.3_Silent_p.S374S|MCC_ENST00000514701.3_5'UTR	p.S184S	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	5	1115	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	184					D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	c.552C>A	CCDS4111.1																																																																																				0.572	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		24	101	1	0	2.49675e-24	0.717897	2.98223e-24	24	101				
OR2H2	7932	broad.mit.edu	37	6	29556084	29556084	+	Silent	SNP	C	C	T	rs185177549		TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:29556084C>T	ENST00000383640.2	+	1	402	c.363C>T	c.(361-363)taC>taT	p.Y121Y	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	121					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TTGATCGCTACGTGGCTGTCT	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		17847	0.001		0.0	False		,,,				2504	0.0					ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(361-363)taC>taT		olfactory receptor, family 2, subfamily H, member 2							131.0	134.0	133.0					6																	29556084		1511	2709	4220	SO:0001819	synonymous_variant	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556084C>T		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.363C>T	6.37:g.29556084C>T						GABBR1_ENST00000355973.3_Intron	p.Y121Y	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN			1	402	+			121					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Silent	SNP	ENST00000383640.2	37	c.363C>T	CCDS34365.1																																																																																				0.577	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			4	82	0	0	0	0.150653	0	4	82				
ZNF208	7757	broad.mit.edu	37	19	22155223	22155223	+	Silent	SNP	T	T	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	871					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.K771K(2)|p.K871K(1)	kidney(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2611-2613)aaA>aaG		zinc finger protein 208							47.0	50.0	49.0					19																	22155223		2074	4231	6305	SO:0001819	synonymous_variant	7757							g.chr19:22155223T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2613A>G	19.37:g.22155223T>C						ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.K871K	NM_007153.3	NP_009084.2					4	2761	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2613A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	51	0	0	0	0.115264	0	3	51				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	55	0	0	0	0.804634	0	34	55				
GPR115	221393	broad.mit.edu	37	6	47682356	47682356	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:47682356A>G	ENST00000283303.2	+	6	1633	c.1375A>G	c.(1375-1377)Ata>Gta	p.I459V	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.I516V|GPR115_ENST00000327753.3_Missense_Mutation_p.I459V	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	459					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTGGTTTATCATAGGCTCTCA	0.458																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(1375-1377)Ata>Gta		G protein-coupled receptor 115							257.0	239.0	245.0					6																	47682356		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682356A>G	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1375A>G	6.37:g.47682356A>G	ENSP00000283303:p.Ile459Val					GPR115_ENST00000371220.1_Missense_Mutation_p.I516V|GPR115_ENST00000327753.3_Missense_Mutation_p.I459V	p.I459V	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1633	+			459					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1375A>G	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.873311	0.00542	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.41400	1.0;1.0;1.0	5.45	-8.54	0.00912	GPCR, family 2-like (1);	0.774326	0.12136	N	0.496310	T	0.03136	0.0092	N	0.05574	-0.02	0.09310	N	0.999994	B	0.06786	0.001	B	0.12156	0.007	T	0.28650	-1.0037	10	0.06099	T	0.92	-1.4338	2.8035	0.05421	0.1834:0.2642:0.3775:0.1749	.	459	Q8IZF3	GP115_HUMAN	V	516;459;459	ENSP00000360264:I516V;ENSP00000328319:I459V;ENSP00000283303:I459V	ENSP00000283303:I459V	I	+	1	0	GPR115	47790315	0.007000	0.16637	0.004000	0.12327	0.359000	0.29487	0.229000	0.17833	-1.428000	0.01989	-0.316000	0.08728	ATA		0.458	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		21	307	0	0	0	0.608945	0	21	307				
RUFY2	55680	broad.mit.edu	37	10	70141155	70141155	+	Splice_Site	SNP	T	T	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:70141155T>C	ENST00000602465.1	-	11	1041	c.941A>G	c.(940-942)gAt>gGt	p.D314G	RUFY2_ENST00000388768.2_Splice_Site_p.D349G|RUFY2_ENST00000399200.2_Splice_Site_p.D280G|RUFY2_ENST00000454950.2_Splice_Site_p.D256G|RUFY2_ENST00000472394.2_5'UTR			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	363						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ATTCTCTACATCCTGCAATTT	0.358																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.e11-1		RUN and FYVE domain containing 2							211.0	190.0	196.0					10																	70141155		1893	4117	6010	SO:0001630	splice_region_variant	55680					nucleus	metal ion binding	g.chr10:70141155T>C	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.940-1A>G	10.37:g.70141155T>C						RUFY2_ENST00000454950.2_Splice_Site_p.D256_splice|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Splice_Site_p.D314_splice|RUFY2_ENST00000399200.2_Splice_Site_p.D280_splice	p.D349_splice	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			11	1372	-			363					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Splice_Site	SNP	ENST00000602465.1	37	c.1044_splice		.	.	.	.	.	.	.	.	.	.	T	26.3	4.727002	0.89390	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	T;T;T	0.55052	0.54;1.72;1.34	5.46	5.46	0.80206	.	0.050220	0.85682	D	0.000000	T	0.69663	0.3136	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.76494	0.996;0.996;0.998;0.999	P;D;D;D	0.79784	0.877;0.993;0.942;0.96	T	0.71020	-0.4713	10	0.52906	T	0.07	.	15.6873	0.77421	0.0:0.0:0.0:1.0	.	256;314;280;349	B4DFR0;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	G	349;280;256	ENSP00000373420:D349G;ENSP00000382151:D280G;ENSP00000404986:D256G	ENSP00000373420:D349G	D	-	2	0	RUFY2	69811161	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.742000	0.68646	2.289000	0.77006	0.482000	0.46254	GAT		0.358	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987	Missense_Mutation	76	116	0	0	0	0.870114	0	76	116				
ANGPTL1	9068	broad.mit.edu	37	1	178820268	178820268	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:178820268T>G	ENST00000234816.2	-	6	1919	c.1472A>C	c.(1471-1473)gAc>gCc	p.D491A	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.D491A|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	491	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CTCTCTTCAGTCAATAGGCTT	0.388																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(1471-1473)gAc>gCc		angiopoietin-like 1							120.0	111.0	114.0					1																	178820268		2203	4300	6503	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178820268T>G	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.1472A>C	1.37:g.178820268T>G	ENSP00000234816:p.Asp491Ala					RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.D491A|RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367634.2_Intron	p.D491A	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN			6	1919	-			491			Fibrinogen C-terminal.		Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.1472A>C	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741643	0.69304	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564	T;T	0.65916	-0.18;-0.18	6.17	6.17	0.99709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	.	.	.	.	T	0.63058	0.2479	L	0.53617	1.68	0.42162	D	0.991602	B	0.29432	0.244	B	0.33568	0.166	T	0.64228	-0.6457	9	0.87932	D	0	.	16.4837	0.84171	0.0:0.0:0.0:1.0	.	491	O95841	ANGL1_HUMAN	A	491;491;280	ENSP00000234816:D491A;ENSP00000356601:D491A	ENSP00000234816:D491A	D	-	2	0	ANGPTL1	177086891	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	GAC		0.388	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		3	58	0	0	0	0.115264	0	3	58				
RETNLB	84666	broad.mit.edu	37	3	108475916	108475916	+	Silent	SNP	G	G	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:108475916G>T	ENST00000295755.6	-	1	315	c.117C>A	c.(115-117)ctC>ctA	p.L39L	RETNLB_ENST00000482939.1_5'Flank	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	39					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CTAGACTGTTGAGAACATCCT	0.498																																						ENST00000295755.6																			0				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						c.(115-117)ctC>ctA		resistin like beta							63.0	55.0	58.0					3																	108475916		2203	4300	6503	SO:0001819	synonymous_variant	84666				cell proliferation	extracellular region	hormone activity	g.chr3:108475916G>T	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.117C>A	3.37:g.108475916G>T							p.L39L	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN			1	315	-			39					Q14D27	Silent	SNP	ENST00000295755.6	37	c.117C>A	CCDS2953.1																																																																																				0.498	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1			4	19	1	0	0.00024832	0.150653	0.000266944	4	19				
KRTAP10-7	386675	broad.mit.edu	37	21	46020984	46020984	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr21:46020984C>T	ENST00000380102.2	+	1	488	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	155	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CACCTCCTCCCCCTGCCAGCA	0.592																																						ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(463-465)Ccc>Tcc		keratin associated protein 10-7							63.0	67.0	65.0					21																	46020984		2196	4292	6488	SO:0001583	missense	386675					keratin filament		g.chr21:46020984C>T	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.463C>T	21.37:g.46020984C>T	ENSP00000369445:p.Pro155Ser					TSPEAR_ENST00000323084.4_Intron	p.P155S	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	488	+			155			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.463C>T		.	.	.	.	.	.	.	.	.	.	N	0.161	-1.081589	0.01888	.	.	ENSG00000205441	ENST00000380102	T	0.01287	5.05	3.06	-5.95	0.02241	.	.	.	.	.	T	0.01029	0.0034	L	0.43152	1.355	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.50136	-0.8863	9	0.12766	T	0.61	.	1.1467	0.01777	0.1733:0.1672:0.1504:0.5092	.	150	P60409-2	.	S	155	ENSP00000369445:P155S	ENSP00000369445:P155S	P	+	1	0	KRTAP10-7	44845412	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-0.728000	0.04925	-0.507000	0.06549	0.460000	0.39030	CCC		0.592	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		19	37	0	0	0	0.667858	0	19	37				
FUT8	2530	broad.mit.edu	37	14	66136042	66136042	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:66136042G>A	ENST00000360689.5	+	7	2406	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	FUT8_ENST00000358307.2_Missense_Mutation_p.V98M|FUT8_ENST00000557164.1_Missense_Mutation_p.V64M|FUT8_ENST00000394585.1_Missense_Mutation_p.V227M|FUT8_ENST00000417683.1_5'Flank|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.V227M	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	227	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCTCCATCATGTGGTCTACTG	0.473																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(679-681)Gtg>Atg		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							171.0	147.0	155.0					14																	66136042		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66136042G>A	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.679G>A	14.37:g.66136042G>A	ENSP00000353910:p.Val227Met					FUT8_ENST00000394585.1_Missense_Mutation_p.V227M|FUT8_ENST00000557164.1_Missense_Mutation_p.V64M|FUT8_ENST00000394586.2_Missense_Mutation_p.V227M|FUT8_ENST00000358307.2_Missense_Mutation_p.V98M|FUT8_ENST00000554765.1_3'UTR	p.V227M	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	7	2406	+			227					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.679G>A	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856748	0.91433	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.93739	0.7999	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.69479	0.929;0.964	D	0.94023	0.7294	10	0.72032	D	0.01	-7.4149	17.6669	0.88205	0.0:0.0:1.0:0.0	.	98;227	G3XAD2;Q9BYC5	.;FUT8_HUMAN	M	227;227;64;227;98	ENSP00000353910:V227M;ENSP00000378087:V227M;ENSP00000452433:V64M;ENSP00000378086:V227M;ENSP00000351057:V98M	ENSP00000345865:V227M	V	+	1	0	FUT8	65205795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.768000	0.95171	0.655000	0.94253	GTG		0.473	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		4	58	0	0	0	0.150653	0	4	58				
IQGAP1	8826	broad.mit.edu	37	15	91030731	91030731	+	Missense_Mutation	SNP	A	A	G	rs200349977		TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:91030731A>G	ENST00000268182.5	+	33	4289	c.4165A>G	c.(4165-4167)Aaa>Gaa	p.K1389E	IQGAP1_ENST00000560738.1_Missense_Mutation_p.K817E	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1389	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTCAGTACAAAACGTTTAAT	0.463													A|||	1	0.000199681	0.0008	0.0	5008	,	,		21298	0.0		0.0	False		,,,				2504	0.0					ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(4165-4167)Aaa>Gaa		IQ motif containing GTPase activating protein 1		A	GLU/LYS	2,4394	4.2+/-10.8	0,2,2196	73.0	61.0	65.0		4165	5.7	1.0	15		65	0,8596		0,0,4298	no	missense	IQGAP1	NM_003870.3	56	0,2,6494	GG,GA,AA		0.0,0.0455,0.0154	probably-damaging	1389/1658	91030731	2,12990	2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91030731A>G	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4165A>G	15.37:g.91030731A>G	ENSP00000268182:p.Lys1389Glu					IQGAP1_ENST00000560738.1_Missense_Mutation_p.K817E	p.K1389E	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		33	4289	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1389			C2.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.4165A>G	CCDS10362.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	A	29.2	4.988646	0.93106	4.55E-4	0.0	ENSG00000140575	ENST00000268182	T	0.51817	0.69	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75271	-0.3376	10	0.87932	D	0	-25.5503	15.1218	0.72450	1.0:0.0:0.0:0.0	.	10;1389	B4DNP4;P46940	.;IQGA1_HUMAN	E	1389	ENSP00000268182:K1389E	ENSP00000268182:K1389E	K	+	1	0	IQGAP1	88831735	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.219000	0.95173	2.154000	0.67381	0.455000	0.32223	AAA		0.463	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		7	20	0	0	0	0.248553	0	7	20				
FXYD7	53822	broad.mit.edu	37	19	35642241	35642241	+	Intron	SNP	A	A	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:35642241A>G	ENST00000270310.2	+	3	220				FXYD7_ENST00000586063.1_Intron|FXYD7_ENST00000588265.1_Missense_Mutation_p.D49G|CTD-2527I21.4_ENST00000592174.1_RNA	NM_022006.1	NP_071289.1	P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7						ion transmembrane transport (GO:0034220)|regulation of ion transport (GO:0043269)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AGTAAGTGCGACCCATTCCTG	0.532																																						ENST00000588265.1																			0				NS(1)|endometrium(1)|lung(1)	3						c.(145-147)gAc>gGc		FXYD domain containing ion transport regulator 7							199.0	163.0	175.0					19																	35642241		2203	4300	6503	SO:0001627	intron_variant	53822					integral to membrane	ion channel activity	g.chr19:35642241A>G	AI929519	CCDS12446.1	19q13.1	2008-02-05	2002-01-14			ENSG00000221946			4034	protein-coding gene	gene with protein product		606684	"""FXYD domain-containing ion transport regulator 7"""				Standard	NM_022006		Approved		uc002nye.1	P58549		ENST00000270310.2:c.136+10A>G	19.37:g.35642241A>G						FXYD7_ENST00000270310.2_Intron|FXYD7_ENST00000586063.1_Intron	p.D49G			P58549	FXYD7_HUMAN	Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)		3	201	+	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		46						Missense_Mutation	SNP	ENST00000270310.2	37	c.146A>G	CCDS12446.1																																																																																				0.532	FXYD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460657.1	NM_022006		5	66	0	0	0	0.184627	0	5	66				
UBLCP1	134510	broad.mit.edu	37	5	158697549	158697549	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:158697549C>A	ENST00000296786.6	+	5	672	c.346C>A	c.(346-348)Ctg>Atg	p.L116M		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	116						nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAAACCTACTGAAAATTTC	0.333																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(346-348)Ctg>Atg		ubiquitin-like domain containing CTD phosphatase 1							61.0	65.0	64.0					5																	158697549		2203	4299	6502	SO:0001583	missense	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158697549C>A	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.346C>A	5.37:g.158697549C>A	ENSP00000296786:p.Leu116Met						p.L116M	NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	672	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	116					D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	c.346C>A	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651295	0.29336	.	.	ENSG00000164332	ENST00000296786	.	.	.	5.79	-0.146	0.13432	.	0.131289	0.51477	D	0.000094	T	0.12305	0.0299	N	0.14661	0.345	0.29898	N	0.824608	P	0.43392	0.805	B	0.33799	0.17	T	0.17561	-1.0365	9	0.48119	T	0.1	-1.8619	6.4092	0.21682	0.0:0.4897:0.1156:0.3947	.	116	Q8WVY7	UBCP1_HUMAN	M	116	.	ENSP00000296786:L116M	L	+	1	2	UBLCP1	158630127	0.458000	0.25760	0.348000	0.25681	0.985000	0.73830	0.489000	0.22387	-0.107000	0.12088	0.563000	0.77884	CTG		0.333	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		9	79	1	0	1.12685e-05	0.307466	1.24243e-05	9	79				
FLG	2312	broad.mit.edu	37	1	152282972	152282972	+	Missense_Mutation	SNP	C	C	G	rs551853917	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:152282972C>G	ENST00000368799.1	-	3	4425	c.4390G>C	c.(4390-4392)Gga>Cga	p.G1464R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1464	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTGTCTTCCTCCAGTGCTG	0.572									Ichthyosis				C|||	2	0.000399361	0.0	0.0029	5008	,	,		19548	0.0		0.0	False		,,,				2504	0.0					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4390-4392)Gga>Cga		filaggrin							243.0	233.0	236.0					1																	152282972		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282972C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4390G>C	1.37:g.152282972C>G	ENSP00000357789:p.Gly1464Arg					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G1464R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4425	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1464			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4390G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092647	0.20471	.	.	ENSG00000143631	ENST00000368799	T	0.07688	3.17	2.87	-1.63	0.08345	.	.	.	.	.	T	0.01523	0.0049	L	0.27053	0.805	0.09310	N	1	P	0.41978	0.767	B	0.40825	0.341	T	0.41627	-0.9498	9	0.24483	T	0.36	.	3.6039	0.08035	0.0:0.4318:0.1938:0.3743	.	1464	P20930	FILA_HUMAN	R	1464	ENSP00000357789:G1464R	ENSP00000357789:G1464R	G	-	1	0	FLG	150549596	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.969000	0.03813	-0.328000	0.08539	0.556000	0.70494	GGA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		16	199	0	0	0	0.500413	0	16	199				
RXRG	6258	broad.mit.edu	37	1	165389141	165389141	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:165389141T>A	ENST00000359842.5	-	3	710	c.408A>T	c.(406-408)aaA>aaT	p.K136N	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	136	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CACAGATGTGTTTAACCAGAG	0.537																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(406-408)aaA>aaT		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						146.0	135.0	139.0					1																	165389141		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165389141T>A	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.408A>T	1.37:g.165389141T>A	ENSP00000352900:p.Lys136Asn					RXRG_ENST00000470566.1_5'UTR	p.K136N	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			3	710	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		136			Modulating (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.408A>T	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912202	0.72983	.	.	ENSG00000143171	ENST00000359842	D	0.96232	-3.95	5.22	0.436	0.16549	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (2);	0.000000	0.85682	D	0.000000	D	0.93716	0.7992	L	0.33339	1.005	0.80722	D	1.000000	D	0.76494	0.999	D	0.78314	0.991	D	0.91165	0.4964	9	0.45353	T	0.12	.	8.3686	0.32402	0.0:0.3223:0.0:0.6777	.	136	P48443	RXRG_HUMAN	N	136	ENSP00000352900:K136N	ENSP00000352900:K136N	K	-	3	2	RXRG	163655765	0.996000	0.38824	0.999000	0.59377	0.985000	0.73830	0.262000	0.18460	0.035000	0.15519	0.533000	0.62120	AAA		0.537	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		4	61	0	0	0	0.150653	0	4	61				
NF1	4763	broad.mit.edu	37	17	29663350	29663350	+	Splice_Site	SNP	G	G	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:29663350G>C	ENST00000358273.4	+	41	6389		c.e41-1		NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTCAACTAGATTACAGATC	0.328			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(5)	p.0?(8)|p.?(5)	soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CS040854	NF1	S		c.e41-1		neurofibromin 1							80.0	72.0	75.0					17																	29663350		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29663350G>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6007-1G>C	17.37:g.29663350G>C		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site		NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	41	6389	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37		CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542680	0.65198	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2577	0.93952	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26687476	1.000000	0.71417	0.998000	0.56505	0.906000	0.53458	9.344000	0.97050	2.854000	0.98071	0.655000	0.94253	.		0.328	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	4	68	0	0	0	0.248553	0	4	68				
DDX24	57062	broad.mit.edu	37	14	94528925	94528925	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:94528925G>A	ENST00000330836.5	-	3	892	c.761C>T	c.(760-762)gCg>gTg	p.A254V	DDX24_ENST00000544005.1_Missense_Mutation_p.A4V|DDX24_ENST00000555054.1_Missense_Mutation_p.A211V	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	254	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTGCAACACCGCATGAATCAT	0.458																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(760-762)gCg>gTg		DEAD (Asp-Glu-Ala-Asp) box helicase 24							87.0	83.0	84.0					14																	94528925		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94528925G>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.761C>T	14.37:g.94528925G>A	ENSP00000328690:p.Ala254Val					DDX24_ENST00000555054.1_Missense_Mutation_p.A211V|DDX24_ENST00000544005.1_Missense_Mutation_p.A4V	p.A254V	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	3	892	-		all_cancers(154;0.12)	254			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.761C>T	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562521	0.45694	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000555054;ENST00000542247	T;T;T	0.15372	2.43;3.94;2.43	5.61	4.72	0.59763	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.553041	0.21165	N	0.079093	T	0.13500	0.0327	N	0.25485	0.75	0.19575	N	0.999968	P	0.42337	0.776	B	0.38156	0.266	T	0.07947	-1.0746	10	0.41790	T	0.15	-17.5646	14.5862	0.68326	0.0709:0.0:0.9291:0.0	.	254	Q9GZR7	DDX24_HUMAN	V	254;4;199;211;211	ENSP00000328690:A254V;ENSP00000440623:A4V;ENSP00000452145:A211V	ENSP00000328690:A254V	A	-	2	0	DDX24	93598678	0.671000	0.27521	0.088000	0.20740	0.216000	0.24613	4.036000	0.57304	1.498000	0.48600	0.655000	0.94253	GCG		0.458	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		20	70	0	0	0	0.608945	0	20	70				
FSTL5	56884	broad.mit.edu	37	4	162577525	162577525	+	Missense_Mutation	SNP	T	T	A	rs61746784		TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:162577525T>A	ENST00000306100.5	-	7	1285	c.849A>T	c.(847-849)aaA>aaT	p.K283N	FSTL5_ENST00000379164.4_Missense_Mutation_p.K282N|FSTL5_ENST00000536695.1_Missense_Mutation_p.K282N|FSTL5_ENST00000427802.2_Missense_Mutation_p.K282N|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	283	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATTGTTCCTTTTCCAGATAA	0.353																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(847-849)aaA>aaT		follistatin-like 5							61.0	62.0	61.0					4																	162577525		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162577525T>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.849A>T	4.37:g.162577525T>A	ENSP00000305334:p.Lys283Asn					FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.K282N|FSTL5_ENST00000427802.2_Missense_Mutation_p.K282N|FSTL5_ENST00000536695.1_Missense_Mutation_p.K282N	p.K283N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	7	1285	-	all_hematologic(180;0.24)		283			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.849A>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546557	0.65198	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.38	-5.72	0.02406	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.141531	0.64402	D	0.000007	T	0.21718	0.0523	M	0.74467	2.265	0.29087	N	0.882331	P;P;B	0.44195	0.822;0.828;0.173	P;P;B	0.48598	0.583;0.557;0.154	T	0.17899	-1.0354	10	0.51188	T	0.08	.	16.7112	0.85386	0.0:0.639:0.0:0.361	.	282;282;283	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	N	283;282;282;282	ENSP00000305334:K283N;ENSP00000368462:K282N;ENSP00000389270:K282N;ENSP00000440409:K282N	ENSP00000305334:K283N	K	-	3	2	FSTL5	162796975	0.006000	0.16342	0.896000	0.35187	0.872000	0.50106	-1.249000	0.02888	-0.921000	0.03794	-0.417000	0.06048	AAA		0.353	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		14	27	0	0	0	0.457914	0	14	27				
ATAD2	29028	broad.mit.edu	37	8	124368657	124368657	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr8:124368657G>A	ENST00000287394.5	-	13	1725	c.1618C>T	c.(1618-1620)Cgg>Tgg	p.R540W	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_De_novo_Start_OutOfFrame	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	540					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGCTTGACCGTACTGGAGCC	0.418																																						ENST00000521903.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48								ATPase family, AAA domain containing 2							108.0	90.0	96.0					8																	124368657		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124368657G>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1618C>T	8.37:g.124368657G>A	ENSP00000287394:p.Arg540Trp					ATAD2_ENST00000287394.5_Missense_Mutation_p.R540W				Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		0	1982	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)							Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Translation_Start_Site	SNP	ENST00000287394.5	37		CCDS6343.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192600	0.78902	.	.	ENSG00000156802	ENST00000287394	D	0.95103	-3.61	5.14	4.25	0.50352	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.307941	0.33732	N	0.004615	D	0.98441	0.9481	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98740	1.0716	10	0.87932	D	0	-3.5488	13.0208	0.58787	0.0:0.0:0.7066:0.2934	.	370;540	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	W	540	ENSP00000287394:R540W	ENSP00000287394:R540W	R	-	1	2	ATAD2	124437838	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	3.746000	0.55127	1.267000	0.44247	0.467000	0.42956	CGG		0.418	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		5	45	0	0	0	0.184627	0	5	45				
CNTNAP2	26047	broad.mit.edu	37	7	147914572	147914572	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr7:147914572G>C	ENST00000361727.3	+	19	3719	c.3203G>C	c.(3202-3204)aGc>aCc	p.S1068T	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.S127T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1068	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCTACATCAGCTCCTTCACC	0.557										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(3202-3204)aGc>aCc		contactin associated protein-like 2							108.0	95.0	100.0					7																	147914572		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914572G>C	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3203G>C	7.37:g.147914572G>C	ENSP00000354778:p.Ser1068Thr	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_Missense_Mutation_p.S127T	p.S1068T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3719	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1068			Laminin G-like 4.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3203G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520663	0.85495	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.79845	-1.31;-1.31	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.82193	2.58	0.49798	D	0.999824	P	0.38677	0.642	B	0.43052	0.406	D	0.86050	0.1525	10	0.46703	T	0.11	.	17.4392	0.87561	0.0:0.0:1.0:0.0	.	1068	Q9UHC6	CNTP2_HUMAN	T	1068;127	ENSP00000354778:S1068T;ENSP00000440732:S127T	ENSP00000354778:S1068T	S	+	2	0	CNTNAP2	147545505	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	8.522000	0.90573	2.438000	0.82558	0.561000	0.74099	AGC		0.557	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			5	95	0	0	0	0.184627	0	5	95				
PTX4	390667	broad.mit.edu	37	16	1537926	1537926	+	Missense_Mutation	SNP	C	C	T	rs150305846	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:1537926C>T	ENST00000447419.2	-	2	212	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	PTX4_ENST00000293922.1_Missense_Mutation_p.A58T|PTX4_ENST00000440447.2_Missense_Mutation_p.A63T			Q96A99	PTX4_HUMAN	pentraxin 4, long	63						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TAGTTGCTGGCGATGTTCTGC	0.647													C|||	10	0.00199681	0.0	0.0	5008	,	,		16905	0.0		0.0099	False		,,,				2504	0.0					ENST00000447419.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(187-189)Gcc>Acc		pentraxin 4, long		C	THR/ALA	6,4340		0,6,2167	102.0	100.0	101.0		172	1.1	0.0	16	dbSNP_134	101	53,8445		0,53,4196	yes	missense	PTX4	NM_001013658.1	58	0,59,6363	TT,TC,CC		0.6237,0.1381,0.4594	possibly-damaging	58/474	1537926	59,12785	2173	4249	6422	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537926C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.187G>A	16.37:g.1537926C>T	ENSP00000445277:p.Ala63Thr					PTX4_ENST00000440447.2_Missense_Mutation_p.A63T|PTX4_ENST00000293922.1_Missense_Mutation_p.A58T	p.A63T			Q96A99	PTX4_HUMAN			2	212	-			63						Missense_Mutation	SNP	ENST00000447419.2	37	c.187G>A		4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	9.813	1.183622	0.21870	0.001381	0.006237	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.15256	2.62;2.44	5.68	1.12	0.20585	.	0.573692	0.16787	N	0.199549	T	0.07908	0.0198	L	0.54323	1.7	0.09310	N	1	P	0.46220	0.874	B	0.32211	0.142	T	0.21827	-1.0234	10	0.72032	D	0.01	.	4.6245	0.12472	0.1492:0.5846:0.0:0.2663	.	58	Q96A99-2	.	T	63;58	ENSP00000445277:A63T;ENSP00000293922:A58T	ENSP00000293922:A58T	A	-	1	0	PTX4	1477927	0.372000	0.25064	0.000000	0.03702	0.076000	0.17211	0.763000	0.26517	-0.008000	0.14320	-0.251000	0.11542	GCC		0.647	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		6	151	0	0	0	0.248553	0	6	151				
OR5AC2	81050	broad.mit.edu	37	3	97806608	97806608	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:97806608G>A	ENST00000358642.2	+	1	592	c.592G>A	c.(592-594)Gca>Aca	p.A198T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	198					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A198T(2)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATCTATTAACGCACTAATGAT	0.289																																						ENST00000358642.2																			2	Substitution - Missense(2)	p.A198T(2)	large_intestine(1)|endometrium(1)	endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(592-594)Gca>Aca		olfactory receptor, family 5, subfamily AC, member 2							47.0	49.0	48.0					3																	97806608		2203	4299	6502	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806608G>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.592G>A	3.37:g.97806608G>A	ENSP00000351466:p.Ala198Thr						p.A198T	NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN			1	592	+			198						Missense_Mutation	SNP	ENST00000358642.2	37	c.592G>A	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825980	0.32237	.	.	ENSG00000196578	ENST00000358642	T	0.00099	8.73	5.03	-5.16	0.02857	GPCR, rhodopsin-like superfamily (1);	3.367050	0.01838	U	0.035147	T	0.00073	0.0002	N	0.11064	0.09	0.09310	N	1	B	0.20550	0.046	B	0.21708	0.036	T	0.32214	-0.9915	10	0.66056	D	0.02	-0.0146	4.1855	0.10395	0.3439:0.0:0.3282:0.3279	.	198	Q9NZP5	O5AC2_HUMAN	T	198	ENSP00000351466:A198T	ENSP00000351466:A198T	A	+	1	0	OR5AC2	99289298	0.000000	0.05858	0.000000	0.03702	0.192000	0.23643	-2.317000	0.01122	-1.060000	0.03189	0.590000	0.80494	GCA		0.289	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			24	30	0	0	0	0.639603	0	24	30				
FUBP1	8880	broad.mit.edu	37	1	78444677	78444678	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:78444677_78444678delAT	ENST00000370768.2	-	1	92_93	c.11_12delAT	c.(10-12)tatfs	p.Y4fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.Y4fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y4fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	4					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCACTGTTGAATAGTCTGCCAT	0.559			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(10-12)tfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78444677_78444678delAT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.11_12delAT	1.37:g.78444677_78444678delAT	ENSP00000359804:p.Tyr4fs					FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y4fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Y4fs	p.Y4fs			Q96AE4	FUBP1_HUMAN			1	98_99	-			4					Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.11_12delAT	CCDS683.1																																																																																				0.559	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		10	7						10	7	---	---	---	---
FRMD4B	23150	broad.mit.edu	37	3	69230517	69230518	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:69230517_69230518delTT	ENST00000398540.3	-	21	2466_2467	c.2383_2384delAA	c.(2383-2385)aagfs	p.K795fs	FRMD4B_ENST00000478263.1_Frame_Shift_Del_p.K447fs|FRMD4B_ENST00000542259.1_Frame_Shift_Del_p.K741fs	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	795					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTCCTGACTCTTTGAGTAAACA	0.446																																						ENST00000542259.1																			0				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19						c.(2221-2223)gfs		FERM domain containing 4B																																				SO:0001589	frameshift_variant	23150					cytoplasm|cytoskeleton	binding	g.chr3:69230517_69230518delTT	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2383_2384delAA	3.37:g.69230517_69230518delTT	ENSP00000381549:p.Lys795fs					FRMD4B_ENST00000398540.3_Frame_Shift_Del_p.K795fs|FRMD4B_ENST00000478263.1_Frame_Shift_Del_p.K447fs	p.K741fs			Q9Y2L6	FRM4B_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	22	2672_2673	-		Lung NSC(201;0.0138)|Prostate(884;0.11)	795					Q8TAI3	Frame_Shift_Del	DEL	ENST00000398540.3	37	c.2221_2222delAA	CCDS46863.1																																																																																				0.446	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			11	49						11	49	---	---	---	---
GXYLT2	727936	broad.mit.edu	37	3	73024258	73024258	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:73024258delG	ENST00000389617.4	+	7	1441	c.1280delG	c.(1279-1281)aggfs	p.R427fs		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	427					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						ACAATGAAAAGGGCTTATGAG	0.413																																						ENST00000389617.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(1279-1281)agfs		glucoside xylosyltransferase 2							102.0	98.0	99.0					3																	73024258		1885	4104	5989	SO:0001589	frameshift_variant	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73024258delG	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.1280delG	3.37:g.73024258delG	ENSP00000374268:p.Arg427fs						p.R427fs	NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN			7	1441	+			427						Frame_Shift_Del	DEL	ENST00000389617.4	37	c.1280delG	CCDS46870.1																																																																																				0.413	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		9	88						9	88	---	---	---	---
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs3216150|rs373899105	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGCTTTCACAAAAAAAATCA	0.327													|||unknown(NO_COVERAGE)	1065	0.21266	0.0946	0.2709	5008	,	,		17244	0.0764		0.4026	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100261040_100261041insA	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100261048_100261048dupA								NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	1316	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000515683.1	37																																																																																						0.327	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		4	2						4	2	---	---	---	---
ERICH5	203111	broad.mit.edu	37	8	99101783	99101784	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr8:99101783_99101784insA	ENST00000318528.3	+	2	897_898	c.538_539insA	c.(538-540)caafs	p.Q180fs	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		180										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TGAGAATCCACAAACTGCTGCA	0.52																																						ENST00000318528.3																			0				kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13						c.(538-540)aacfs		chromosome 8 open reading frame 47																																				SO:0001589	frameshift_variant	203111							g.chr8:99101783_99101784insA																												ENST00000318528.3:c.541dupA	8.37:g.99101786_99101786dupA	ENSP00000315614:p.Gln180fs					C8orf47_ENST00000545282.1_Intron	p.N180fs	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.214)		2	897_898	+	Breast(36;2.31e-06)		180					G3V1K4|Q8N1L8	Frame_Shift_Ins	INS	ENST00000318528.3	37	c.538_539insA	CCDS34929.1																																																																																				0.520	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			10	28						10	28	---	---	---	---
KRT3	3850	broad.mit.edu	37	12	53187894	53187896	+	Splice_Site	DEL	CTT	CTT	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:53187894_53187896delCTT	ENST00000417996.2	-	2	939_941	c.865_867delAAG	c.(865-867)aagdel	p.K289del	KRT3_ENST00000309505.3_Splice_Site_p.K289del	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	289	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTGTCACTCACTTCTTCTTGAAG	0.591																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.e2+1		keratin 3				2,4256		0,2,2127						4.3	1.0			116	0,8254		0,0,4127	no	coding-near-splice	KRT3	NM_057088.2		0,2,6254	A1A1,A1R,RR		0.0,0.047,0.016				2,12510				SO:0001630	splice_region_variant	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53187894_53187896delCTT		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.866+1AAG>-	12.37:g.53187900_53187902delCTT						KRT3_ENST00000309505.3_Splice_Site_p.289_splice	p.289_splice	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			2	939_941	-			289			Coil 1B.|Rod.		A6NIS2|Q701L8	Splice_Site	DEL	ENST00000417996.2	37	c.866_splice	CCDS44895.1																																																																																				0.591	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088	In_Frame_Del	10	123						10	123	---	---	---	---
FBXW10	10517	broad.mit.edu	37	17	18653309	18653310	+	Intron	INS	-	-	T	rs559008663	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:18653309_18653310insT	ENST00000395665.4	+	4	1092				FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000308799.4_Frame_Shift_Ins_p.F316fs|FBXW10_ENST00000395667.1_Intron			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10											NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CTGGGTCCATCTTTTTTTTTCC	0.535													|||unknown(NO_COVERAGE)	15	0.00299521	0.0061	0.0	5008	,	,		17845	0.005		0.0	False		,,,				2504	0.002					ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(943-948)atttttfs		F-box and WD repeat domain containing 10																																				SO:0001627	intron_variant	10517							g.chr17:18653309_18653310insT	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.872-13->T	17.37:g.18653318_18653318dupT						FBXW10_ENST00000395667.1_Intron|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395665.4_Intron	p.IF315fs			Q5XX13	FBW10_HUMAN			3	1164_1165	+			293			F-box.		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Frame_Shift_Ins	INS	ENST00000395665.4	37	c.945_946insT	CCDS11199.3																																																																																				0.535	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		7	132						7	132	---	---	---	---
C17orf62	79415	broad.mit.edu	37	17	80402421	80402423	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:80402421_80402423delCTC	ENST00000437807.2	-	7	660_662	c.343_345delGAG	c.(343-345)gagdel	p.E115del	C17orf62_ENST00000585080.1_In_Frame_Del_p.E115del|C17orf62_ENST00000578913.1_In_Frame_Del_p.E115del|C17orf62_ENST00000583617.1_In_Frame_Del_p.E115del|C17orf62_ENST00000577732.1_In_Frame_Del_p.E115del|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000342572.8_5'UTR|C17orf62_ENST00000434650.2_In_Frame_Del_p.E101del|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000577436.1_In_Frame_Del_p.E101del|C17orf62_ENST00000578919.1_In_Frame_Del_p.E115del|C17orf62_ENST00000585064.1_In_Frame_Del_p.E115del|C17orf62_ENST00000306645.5_In_Frame_Del_p.E115del	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	115						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACCGGACCTTCTCCTCCTCCACG	0.655																																						ENST00000437807.2																			0				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8						c.(343-345)del		chromosome 17 open reading frame 62																																				SO:0001651	inframe_deletion	79415					integral to membrane	protein binding	g.chr17:80402421_80402423delCTC	AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.343_345delGAG	17.37:g.80402427_80402429delCTC	ENSP00000388909:p.Glu115del					C17orf62_ENST00000578913.1_In_Frame_Del_p.E115del|C17orf62_ENST00000434650.2_In_Frame_Del_p.E101del|C17orf62_ENST00000578919.1_In_Frame_Del_p.E115del|C17orf62_ENST00000585080.1_In_Frame_Del_p.E115del|C17orf62_ENST00000585064.1_In_Frame_Del_p.E115del|C17orf62_ENST00000342572.8_5'UTR|C17orf62_ENST00000577436.1_In_Frame_Del_p.E101del|C17orf62_ENST00000577732.1_In_Frame_Del_p.E115del|C17orf62_ENST00000306645.5_In_Frame_Del_p.E115del|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000583617.1_In_Frame_Del_p.E115del	p.E115del	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		7	660_662	-	Breast(20;0.00106)|all_neural(118;0.0804)		115					E1B6X3|Q96NR1	In_Frame_Del	DEL	ENST00000437807.2	37	c.343_345delGAG	CCDS32776.1																																																																																				0.655	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1	NM_001033046		7	67						7	67	---	---	---	---
SS18	6760	broad.mit.edu	37	18	23632625	23632626	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:23632625_23632626delAT	ENST00000415083.2	-	5	624_625	c.569_570delAT	c.(568-570)tatfs	p.Y190fs	SS18_ENST00000542743.1_Frame_Shift_Del_p.Y138fs|SS18_ENST00000269137.7_Frame_Shift_Del_p.Y190fs|SS18_ENST00000539849.1_Frame_Shift_Del_p.Y108fs|SS18_ENST00000542420.2_Frame_Shift_Del_p.Y167fs|SS18_ENST00000545952.1_Frame_Shift_Del_p.Y138fs|SS18_ENST00000585241.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	190	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTCTGGGACCATAGTTTCCCAT	0.426			T	"""SSX1,  SSX2"""	synovial sarcoma																																	ENST00000415083.2				Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	"""SSX1,  SSX2"""		synovial sarcoma	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19						c.(568-570)tfs		synovial sarcoma translocation, chromosome 18																																				SO:0001589	frameshift_variant	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23632625_23632626delAT	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.569_570delAT	18.37:g.23632625_23632626delAT	ENSP00000414516:p.Tyr190fs					SS18_ENST00000269137.7_Frame_Shift_Del_p.Y190fs|SS18_ENST00000539849.1_Frame_Shift_Del_p.Y108fs|SS18_ENST00000542420.2_Frame_Shift_Del_p.Y167fs|SS18_ENST00000545952.1_Frame_Shift_Del_p.Y138fs|SS18_ENST00000542743.1_Frame_Shift_Del_p.Y138fs|SS18_ENST00000585241.1_5'UTR	p.Y190fs	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN			5	624_625	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		190			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Frame_Shift_Del	DEL	ENST00000415083.2	37	c.569_570delAT	CCDS32807.1																																																																																				0.426	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			32	127						32	127	---	---	---	---
