#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
OR8K5	219453	broad.mit.edu	37	11	55926912	55926912	+	Silent	SNP	G	G	A	rs147115733		TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr11:55926912G>A	ENST00000313447.1	-	1	881	c.882C>T	c.(880-882)aaC>aaT	p.N294N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TCACCTCTTCGTTTCTTAAGC	0.299													G|||	1	0.000199681	0.0	0.0	5008	,	,		15434	0.0		0.001	False		,,,				2504	0.0					ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(880-882)aaC>aaT		olfactory receptor, family 8, subfamily K, member 5		G		0,4402		0,0,2201	72.0	69.0	70.0		882	3.0	1.0	11	dbSNP_134	70	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR8K5	NM_001004058.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		294/308	55926912	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55926912G>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.882C>T	11.37:g.55926912G>A							p.N294N	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	881	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	294					Q6IFB5	Silent	SNP	ENST00000313447.1	37	c.882C>T	CCDS31521.1																																																																																				0.299	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		3	36	0	0	0	1	0	3	36				
BHLHE40	8553	broad.mit.edu	37	3	5024941	5024941	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr3:5024941G>A	ENST00000256495.3	+	5	1406	c.803G>A	c.(802-804)aGg>aAg	p.R268K		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	268					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CACGGACGCAGGTTCACGATG	0.552																																						ENST00000256495.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						c.(802-804)aGg>aAg		basic helix-loop-helix family, member e40							74.0	70.0	71.0					3																	5024941		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5024941G>A	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.803G>A	3.37:g.5024941G>A	ENSP00000256495:p.Arg268Lys						p.R268K	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN			5	1406	+			268					Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.803G>A	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.309126	0.01342	.	.	ENSG00000134107	ENST00000256495	T	0.74737	-0.87	5.52	3.48	0.39840	.	1.131420	0.06336	N	0.707123	T	0.39860	0.1094	N	0.00960	-1.095	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50617	-0.8807	10	0.02654	T	1	.	4.2071	0.10493	0.4725:0.0:0.5275:0.0	.	268	O14503	BHE40_HUMAN	K	268	ENSP00000256495:R268K	ENSP00000256495:R268K	R	+	2	0	BHLHE40	4999941	0.984000	0.35163	0.931000	0.37212	0.050000	0.14768	2.768000	0.47645	1.340000	0.45581	-0.140000	0.14226	AGG		0.552	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		4	45	0	0	0	1	0	4	45				
RNF31	55072	broad.mit.edu	37	14	24629074	24629074	+	Splice_Site	SNP	C	C	T	rs564151269		TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr14:24629074C>T	ENST00000324103.6	+	19	3221	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G	RNF31_ENST00000559275.1_Splice_Site_p.G816G|IRF9_ENST00000396864.3_5'Flank|RNA5SP383_ENST00000362934.1_RNA|RP11-468E2.4_ENST00000558468.1_Splice_Site_p.G442G|IRF9_ENST00000557894.1_5'Flank|RNF31_ENST00000382687.3_Splice_Site_p.G816G	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	967	LDD domain.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G967G(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CACCTTTAGGCGGCTGCCGAG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		18509	0.001		0.0	False		,,,				2504	0.0					ENST00000558468.1																			1	Substitution - coding silent(1)	p.G967G(1)	large_intestine(1)								c.e11-1									122.0	125.0	124.0					14																	24629074		1947	4145	6092	SO:0001630	splice_region_variant	0							g.chr14:24629074C>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2900-1C>T	14.37:g.24629074C>T						RNF31_ENST00000559275.1_Splice_Site_p.G816_splice|RNF31_ENST00000324103.6_Splice_Site_p.G967_splice|RNF31_ENST00000382687.3_Splice_Site_p.G816_splice	p.G442_splice							11	1326	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Splice_Site	SNP	ENST00000324103.6	37	c.1324_splice	CCDS41931.1																																																																																				0.582	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	Silent	4	141	0	0	0	1	0	4	141				
KIAA0754	643314	broad.mit.edu	37	1	39878320	39878320	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr1:39878320G>A	ENST00000530275.1	+	1	2170	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	659										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCAGAGGGAGGGGAGATGGA	0.428																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(1975-1977)Ggg>Agg		KIAA0754							80.0	79.0	79.0					1																	39878320		1903	4126	6029	SO:0001583	missense	643314							g.chr1:39878320G>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1975G>A	1.37:g.39878320G>A	ENSP00000431179:p.Gly659Arg					MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron	p.G659R	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	2170	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	659					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.1975G>A		.	.	.	.	.	.	.	.	.	.	G	10.61	1.399276	0.25291	.	.	ENSG00000255103	ENST00000530275	D	0.85702	-2.02	5.33	0.14	0.14804	.	.	.	.	.	T	0.72708	0.3494	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.61337	-0.7083	9	0.72032	D	0.01	.	5.2382	0.15458	0.3272:0.1383:0.5345:0.0	.	659	O94854	K0754_HUMAN	R	659	ENSP00000431179:G659R	ENSP00000431179:G659R	G	+	1	0	RP4-562N20.1	39650907	0.081000	0.21417	0.001000	0.08648	0.816000	0.46133	0.504000	0.22626	0.010000	0.14839	-0.127000	0.14921	GGG		0.428	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		5	46	0	0	0	1	0	5	46				
LARP1	23367	broad.mit.edu	37	5	154183828	154183828	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr5:154183828T>A	ENST00000336314.4	+	14	2300	c.2276T>A	c.(2275-2277)aTg>aAg	p.M759K		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	836					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCTGGGTGATGGATTCCCGT	0.557																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2275-2277)aTg>aAg		La ribonucleoprotein domain family, member 1							138.0	132.0	134.0					5																	154183828		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154183828T>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2276T>A	5.37:g.154183828T>A	ENSP00000336721:p.Met759Lys						p.M759K	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		14	2300	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	836					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.2276T>A	CCDS4328.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	21.9|21.9|21.9	4.214844|4.214844|4.214844	0.79352|0.79352|0.79352	.|.|.	.|.|.	ENSG00000155506|ENSG00000155506|ENSG00000155506	ENST00000522272|ENST00000336314|ENST00000518677	.|T|.	.|0.28454|.	.|1.61|.	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	.|.|.	.|0.035174|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.80665|0.80665|0.80665	0.4666|0.4666|0.4666	M|M|M	0.86740|0.86740|0.86740	2.835|2.835|2.835	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.71674|.	.|0.979;0.998|.	.|P;D|.	.|0.69307|.	.|0.822;0.963|.	T|T|T	0.83011|0.83011|0.83011	-0.0172|-0.0172|-0.0172	5|10|5	.|0.72032|.	.|D|.	.|0.01|.	-20.5089|-20.5089|-20.5089	16.8222|16.8222|16.8222	0.85835|0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|836;759|.	.|Q6PKG0;Q6PKG0-3|.	.|LARP1_HUMAN;.|.	E|K|R	16|759|150	.|ENSP00000336721:M759K|.	.|ENSP00000336721:M759K|.	D|M|W	+|+|+	3|2|1	2|0|0	LARP1|LARP1|LARP1	154164021|154164021|154164021	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.254000|0.254000|0.254000	0.26022|0.26022|0.26022	7.975000|7.975000|7.975000	0.88055|0.88055|0.88055	2.371000|2.371000|2.371000	0.80710|0.80710|0.80710	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATG|TGG		0.557	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		10	77	0	0	0	1	0	10	77				
PTPRD	5789	broad.mit.edu	37	9	8389380	8389380	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr9:8389380G>T	ENST00000381196.4	-	34	4781	c.4238C>A	c.(4237-4239)gCc>gAc	p.A1413D	PTPRD_ENST00000540109.1_Missense_Mutation_p.A1413D|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1400D|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1413D|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1006D|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1003D|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1003D|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1391D|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1007D|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1006D|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1006D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1413	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATGTAGTTGGCATTCACATA	0.448										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4237-4239)gCc>gAc		protein tyrosine phosphatase, receptor type, D							166.0	158.0	160.0					9																	8389380		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8389380G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4238C>A	9.37:g.8389380G>T	ENSP00000370593:p.Ala1413Asp	TSP Lung(15;0.13)				PTPRD_ENST00000355233.5_Missense_Mutation_p.A1007D|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1413D|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1003D|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1006D|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1400D|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1391D|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1413D|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1006D|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1006D|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1003D	p.A1413D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	34	4781	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1413			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4238C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083301	0.94050	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.55	5.55	0.83447	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.111218	0.64402	D	0.000010	D	0.92609	0.7652	H	0.99890	4.9	0.80722	D	1	D;B;B;B;D;B;D;D;D	0.89917	1.0;0.235;0.235;0.235;1.0;0.197;1.0;0.969;0.999	D;B;B;B;D;B;D;P;D	0.79784	0.953;0.189;0.189;0.189;0.993;0.119;0.983;0.648;0.981	D	0.96114	0.9079	9	.	.	.	.	19.4972	0.95079	0.0:0.0:1.0:0.0	.	1006;997;1006;1007;1003;1003;1400;1413;1413	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	D	1413;1413;1400;1391;1007;1006;1003;1003;884;1413;1006;1006	ENSP00000370593:A1413D;ENSP00000348812:A1413D;ENSP00000353187:A1400D;ENSP00000351293:A1391D;ENSP00000347373:A1007D;ENSP00000380741:A1006D;ENSP00000380735:A1003D;ENSP00000440515:A1003D;ENSP00000438164:A1413D;ENSP00000417093:A1006D;ENSP00000380731:A1006D	.	A	-	2	0	PTPRD	8379380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.604000	0.88044	0.555000	0.69702	GCC		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			7	89	1	0	8.12818e-05	1	8.53459e-05	7	89				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			374491							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	28	0	0	0	1	0	3	28				
PCYOX1	51449	broad.mit.edu	37	2	70485303	70485303	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr2:70485303C>T	ENST00000433351.2	+	1	35	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	PCYOX1_ENST00000505044.2_Intron|PCYOX1_ENST00000545138.1_5'Flank|PCYOX1_ENST00000264441.5_Missense_Mutation_p.R3C	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	3					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GGCCATGGGGCGCGTCGTCGC	0.731																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(7-9)Cgc>Tgc		prenylcysteine oxidase 1							37.0	38.0	38.0					2																	70485303		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70485303C>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.7C>T	2.37:g.70485303C>T	ENSP00000387654:p.Arg3Cys					PCYOX1_ENST00000264441.5_Missense_Mutation_p.R3C|PCYOX1_ENST00000505044.2_Intron	p.R3C	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN			1	35	+			3					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.7C>T	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719160	0.68844	.	.	ENSG00000116005	ENST00000433351;ENST00000264441	T;T	0.50277	2.39;0.75	4.68	3.76	0.43208	.	1.652070	0.03427	N	0.207182	T	0.30696	0.0773	N	0.14661	0.345	0.24644	N	0.993551	P;P	0.51537	0.946;0.946	B;B	0.34346	0.18;0.18	T	0.35101	-0.9802	10	0.56958	D	0.05	0.0183	10.2532	0.43381	0.1961:0.8039:0.0:0.0	.	3;3	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	C	3	ENSP00000387654:R3C;ENSP00000264441:R3C	ENSP00000264441:R3C	R	+	1	0	PCYOX1	70338807	0.003000	0.15002	0.462000	0.27118	0.003000	0.03518	0.362000	0.20284	2.436000	0.82500	0.549000	0.68633	CGC		0.731	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		5	10	0	0	0	1	0	5	10				
ADAM20	8748	broad.mit.edu	37	14	70989875	70989875	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr14:70989875T>C	ENST00000256389.3	-	2	1994	c.1750A>G	c.(1750-1752)Atc>Gtc	p.I584V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	534	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGGGTGTTGATTTCTTGGTAG	0.423																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1750-1752)Atc>Gtc		ADAM metallopeptidase domain 20							184.0	131.0	149.0					14																	70989875		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989875T>C	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1750A>G	14.37:g.70989875T>C	ENSP00000256389:p.Ile584Val					RP11-486O13.4_ENST00000556646.1_lincRNA	p.I584V	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1994	-			534			Cys-rich.		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1750A>G	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	0.141	-1.102407	0.01828	.	.	ENSG00000134007	ENST00000256389	T	0.20332	2.08	4.66	-1.36	0.09085	ADAM, cysteine-rich (2);	0.762394	0.10814	N	0.631314	T	0.10165	0.0249	N	0.25332	0.735	0.09310	N	1	B	0.13145	0.007	B	0.22601	0.04	T	0.40683	-0.9550	10	0.02654	T	1	.	4.9475	0.13997	0.0:0.3864:0.1636:0.45	.	534	O43506	ADA20_HUMAN	V	584	ENSP00000256389:I584V	ENSP00000256389:I584V	I	-	1	0	ADAM20	70059628	0.000000	0.05858	0.237000	0.24090	0.013000	0.08279	-0.984000	0.03755	-0.072000	0.12864	-0.379000	0.06801	ATC		0.423	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			8	87	0	0	0	1	0	8	87				
NDUFA10	4705	broad.mit.edu	37	2	240923039	240923039	+	Intron	SNP	G	G	A	rs373240216	byFrequency	TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr2:240923039G>A	ENST00000252711.2	-	9	1100				NDUFA10_ENST00000404554.1_Intron|NDUFA10_ENST00000307300.4_Silent_p.T395T	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		aggagcccacggtcagggcca	0.562													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		15197	0.0		0.0	False		,,,				2504	0.0					ENST00000307300.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(1183-1185)acC>acT		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)	G		0,1752		0,0,876	15.0	14.0	14.0			0.3	0.0	2		14	4,3978		0,4,1987	no	intron	NDUFA10	NM_004544.3		0,4,2863	AA,AG,GG		0.1005,0.0,0.0698			240923039	4,5730	876	1991	2867	SO:0001627	intron_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240923039G>A	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.999+6451C>T	2.37:g.240923039G>A						NDUFA10_ENST00000404554.1_Intron|NDUFA10_ENST00000252711.2_Intron	p.T395T			O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	11	1207	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	0					Q8WXC9	Silent	SNP	ENST00000252711.2	37	c.1185C>T	CCDS2531.1																																																																																				0.562	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		5	9	0	0	0	1	0	5	9				
VCAM1	7412	broad.mit.edu	37	1	101186144	101186144	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr1:101186144G>C	ENST00000294728.2	+	2	278	c.177G>C	c.(175-177)tgG>tgC	p.W59C	VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.W59C|VCAM1_ENST00000347652.2_Missense_Mutation_p.W59C	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	59	Ig-like C2-type 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTTTCTCTTGGAGAACCCAGA	0.473																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(175-177)tgG>tgC		vascular cell adhesion molecule 1	Carvedilol(DB01136)						79.0	73.0	75.0					1																	101186144		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101186144G>C	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.177G>C	1.37:g.101186144G>C	ENSP00000294728:p.Trp59Cys					VCAM1_ENST00000370115.1_Missense_Mutation_p.W59C|VCAM1_ENST00000347652.2_Missense_Mutation_p.W59C|VCAM1_ENST00000370119.4_Intron	p.W59C	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	2	278	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	59			Ig-like C2-type 1.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.177G>C	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529336	0.64860	.	.	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	D;D;D	0.96300	-3.97;-3.97;-3.97	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051491	0.85682	D	0.000000	D	0.98510	0.9503	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.99072	1.0834	9	.	.	.	-9.3404	17.8974	0.88892	0.0:0.0:1.0:0.0	.	59;59	P19320-2;P19320	.;VCAM1_HUMAN	C	59	ENSP00000304611:W59C;ENSP00000294728:W59C;ENSP00000359133:W59C	.	W	+	3	0	VCAM1	100958732	1.000000	0.71417	0.999000	0.59377	0.671000	0.39405	6.266000	0.72540	2.745000	0.94114	0.655000	0.94253	TGG		0.473	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		5	57	0	0	0	1	0	5	57				
VAV1	7409	broad.mit.edu	37	19	6821671	6821671	+	Silent	SNP	C	C	A	rs141823895	byFrequency	TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr19:6821671C>A	ENST00000602142.1	+	3	442	c.360C>A	c.(358-360)atC>atA	p.I120I	VAV1_ENST00000539284.1_Silent_p.I55I|VAV1_ENST00000596764.1_Silent_p.I120I|VAV1_ENST00000599806.1_Silent_p.I65I|VAV1_ENST00000304076.2_Silent_p.I120I	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	120					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)	p.I120I(1)		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						GGACCCCGATCGCCCAGAACA	0.627																																						ENST00000304076.2																			1	Substitution - coding silent(1)	p.I120I(1)	lung(1)	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.(358-360)atC>atA		vav 1 guanine nucleotide exchange factor							89.0	78.0	82.0					19																	6821671		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:6821671C>A		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.360C>A	19.37:g.6821671C>A						VAV1_ENST00000539284.1_Silent_p.I55I|VAV1_ENST00000602142.1_Silent_p.I120I|VAV1_ENST00000599806.1_Silent_p.I65I|VAV1_ENST00000596764.1_Silent_p.I120I	p.I120I	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			3	454	+			120					B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.360C>A	CCDS12174.1																																																																																				0.627	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			13	50	1	0	3.27435e-08	1	3.61902e-08	13	50				
IFNA7	3444	broad.mit.edu	37	9	21202068	21202068	+	Missense_Mutation	SNP	G	G	A	rs140552953	byFrequency	TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr9:21202068G>A	ENST00000239347.3	-	1	136	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	33					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTCCTATTACGCAGGCTGTGG	0.512													g|||	2	0.000399361	0.0015	0.0	5008	,	,		19527	0.0		0.0	False		,,,				2504	0.0					ENST00000239347.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12						c.(97-99)Cgt>Tgt		interferon, alpha 7		C	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	98.0	97.0	97.0		97	-5.3	0.0	9	dbSNP_134	97	0,8600		0,0,4300	no	missense	IFNA7	NM_021057.2	180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	possibly-damaging	33/190	21202068	4,13002	2203	4300	6503	SO:0001583	missense	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21202068G>A		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.97C>T	9.37:g.21202068G>A	ENSP00000239347:p.Arg33Cys						p.R33C	NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	136	-			33					Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	c.97C>T	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	g	18.52	3.642755	0.67244	9.08E-4	0.0	ENSG00000214042	ENST00000239347	T	0.05786	3.39	3.14	-5.26	0.02772	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.628040	0.03262	N	0.183455	T	0.12475	0.0303	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.25502	-1.0130	10	0.38643	T	0.18	.	5.6854	0.17801	0.0:0.3633:0.2867:0.3499	.	33	P01567	IFNA7_HUMAN	C	33	ENSP00000239347:R33C	ENSP00000239347:R33C	R	-	1	0	IFNA7	21192068	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.735000	0.00802	-2.082000	0.00868	-1.901000	0.00528	CGT		0.512	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		5	106	0	0	0	1	0	5	106				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	45	0	0	0	1	0	3	45				
SLC25A21	89874	broad.mit.edu	37	14	37198737	37198737	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr14:37198737C>T	ENST00000331299.5	-	5	820	c.305G>A	c.(304-306)gGa>gAa	p.G102E	SLC25A21_ENST00000555449.1_Missense_Mutation_p.G102E	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	102					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGACACATATCCCAGCAATTT	0.318																																						ENST00000331299.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9						c.(304-306)gGa>gAa		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							63.0	58.0	60.0					14																	37198737		2202	4299	6501	SO:0001583	missense	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37198737C>T	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.305G>A	14.37:g.37198737C>T	ENSP00000329452:p.Gly102Glu					SLC25A21_ENST00000555449.1_Missense_Mutation_p.G102E	p.G102E	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	5	820	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		102					A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	ENST00000331299.5	37	c.305G>A	CCDS9663.1	.	.	.	.	.	.	.	.	.	.	C	1.639	-0.517007	0.04171	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.77750	-1.12;-1.12	5.88	5.0	0.66597	Mitochondrial carrier domain (2);	0.313942	0.38837	N	0.001549	T	0.62221	0.2410	L	0.33753	1.03	0.39473	D	0.967754	B	0.12013	0.005	B	0.12837	0.008	T	0.55231	-0.8173	10	0.02654	T	1	-5.904	10.1295	0.42669	0.135:0.7965:0.0:0.0685	.	102	Q9BQT8	ODC_HUMAN	E	102	ENSP00000451873:G102E;ENSP00000329452:G102E	ENSP00000329452:G102E	G	-	2	0	SLC25A21	36268488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.291000	0.33330	1.495000	0.48549	0.650000	0.86243	GGA		0.318	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631		8	46	0	0	0	1	0	8	46				
KRT39	390792	broad.mit.edu	37	17	39122806	39122806	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr17:39122806T>A	ENST00000355612.2	-	1	338	c.303A>T	c.(301-303)caA>caT	p.Q101H	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	101	Coil 1A.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CGTTCAAGATTTGCATGGTCT	0.443																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(301-303)caA>caT		keratin 39							214.0	215.0	214.0					17																	39122806		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39122806T>A	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.303A>T	17.37:g.39122806T>A	ENSP00000347823:p.Gln101His					AC004231.2_ENST00000418393.1_RNA	p.Q101H	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			1	338	-		Breast(137;0.00043)|Ovarian(249;0.15)	101			Coil 1A.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.303A>T	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	t	8.734	0.917275	0.17982	.	.	ENSG00000196859	ENST00000355612	D	0.90900	-2.75	5.81	-4.26	0.03755	Filament (1);	0.524332	0.16091	N	0.230076	D	0.94847	0.8335	H	0.98199	4.17	0.23483	N	0.99758	P	0.40731	0.728	P	0.49999	0.628	D	0.91535	0.5245	10	0.87932	D	0	.	11.1219	0.48296	0.0:0.6348:0.1079:0.2573	.	101	Q6A163	K1C39_HUMAN	H	101	ENSP00000347823:Q101H	ENSP00000347823:Q101H	Q	-	3	2	KRT39	36376332	0.013000	0.17824	0.673000	0.29887	0.195000	0.23768	0.036000	0.13819	-0.647000	0.05444	-0.977000	0.02584	CAA		0.443	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		5	144	0	0	0	1	0	5	144				
OLFM3	118427	broad.mit.edu	37	1	102270459	102270459	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr1:102270459C>T	ENST00000338858.5	-	6	771	c.772G>A	c.(772-774)Gac>Aac	p.D258N	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.D238N			Q96PB7	NOE3_HUMAN	olfactomedin 3	258	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GTATAACTGTCCATGTACCAG	0.373																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(712-714)Gac>Aac		olfactomedin 3							45.0	44.0	44.0					1																	102270459		2203	4297	6500	SO:0001583	missense	118427					extracellular region		g.chr1:102270459C>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.772G>A	1.37:g.102270459C>T	ENSP00000345192:p.Asp258Asn					OLFM3_ENST00000338858.5_Missense_Mutation_p.D258N|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR	p.D238N	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	925	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	258			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.712G>A		.	.	.	.	.	.	.	.	.	.	C	22.9	4.347121	0.82022	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858	D;D	0.90385	-2.66;-2.66	5.35	5.35	0.76521	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94225	0.8146	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.994	D	0.94364	0.7590	10	0.66056	D	0.02	.	19.056	0.93066	0.0:1.0:0.0:0.0	.	238;258	Q5T3V6;Q96PB7	.;NOE3_HUMAN	N	109;238;258	ENSP00000359121:D238N;ENSP00000345192:D258N	ENSP00000345192:D258N	D	-	1	0	OLFM3	102043047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.510000	0.84645	0.650000	0.86243	GAC		0.373	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			3	34	0	0	0	1	0	3	34				
MUC2	4583	broad.mit.edu	37	11	1090952	1090954	+	In_Frame_Del	DEL	ACC	ACC	-	rs72655327|rs199659386		TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr11:1090952_1090954delACC	ENST00000441003.2	+	28	3874_3876	c.3847_3849delACC	c.(3847-3849)accdel	p.T1288del	MUC2_ENST00000361558.6_5'Flank|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_In_Frame_Del_p.T1289del	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1288					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cttcaccactaccaccaccacca	0.616																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(3847-3849)del		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)			86,3588		1,84,1752						-2.3	0.0		dbSNP_130	45	217,7573		3,211,3681	no	coding	MUC2	NM_002457.2		4,295,5433	A1A1,A1R,RR		2.7856,2.3408,2.6431				303,11161				SO:0001651	inframe_deletion	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1090952_1090954delACC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3847_3849delACC	11.37:g.1090961_1090963delACC	ENSP00000415183:p.Thr1288del					MUC2_ENST00000359061.5_In_Frame_Del_p.T1289del	p.T1288del	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	28	3874_3876	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1288					Q14878	In_Frame_Del	DEL	ENST00000441003.2	37	c.3847_3849delACC																																																																																					0.616	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		2	4						2	4	---	---	---	---
