#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
DPAGT1	1798	broad.mit.edu	37	11	118967807	118967807	+	Intron	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr11:118967807G>A	ENST00000409993.2	-	11	2713				H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000354202.4_Intron|DPAGT1_ENST00000432443.2_Silent_p.C295C			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TAAGAATCACGCAGAAAGGGA	0.502																																						ENST00000432443.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(883-885)tgC>tgT		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)							160.0	156.0	157.0					11																	118967807		2200	4295	6495	SO:0001627	intron_variant	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118967807G>A	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.1162-34C>T	11.37:g.118967807G>A						DPAGT1_ENST00000409993.2_Intron|DPAGT1_ENST00000354202.4_Intron	p.C295C			Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	7	1307	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	385					O15216|Q86WV9|Q9BWE6	Silent	SNP	ENST00000409993.2	37	c.885C>T	CCDS8411.1																																																																																				0.502	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		3	62	0	0	0	0.115264	0	3	62				
GABRA5	2558	broad.mit.edu	37	15	27184436	27184436	+	Intron	SNP	G	G	A	rs546015200	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr15:27184436G>A	ENST00000335625.5	+	9	1612				GABRB3_ENST00000541819.2_Nonsense_Mutation_p.R50*|GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000400081.3_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5						associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AGGTCTCCTCGTGCCTCCCAC	0.582													G|||	3	0.000599042	0.0	0.0	5008	,	,		20370	0.0		0.0	False		,,,				2504	0.0031					ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(148-150)Cga>Tga		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						188.0	158.0	167.0					15																	27184436		876	1991	2867	SO:0001627	intron_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:27184436G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.725-636G>A	15.37:g.27184436G>A						GABRA5_ENST00000335625.5_Intron|GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000400081.3_Intron	p.R50*			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	1	250	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	0					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Nonsense_Mutation	SNP	ENST00000335625.5	37	c.148C>T	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	36	5.724580	0.96847	.	.	ENSG00000166206	ENST00000541819	.	.	.	5.44	-1.65	0.08291	.	1.684350	0.03356	N	0.196875	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	10.8669	0.46860	0.0:0.0679:0.5759:0.3562	.	.	.	.	X	50	.	ENSP00000442408:R50X	R	-	1	2	GABRB3	24767182	0.000000	0.05858	0.000000	0.03702	0.928000	0.56348	0.209000	0.17435	-0.601000	0.05783	-0.397000	0.06425	CGA		0.582	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			18	41	0	0	0	0.557998	0	18	41				
RNF130	55819	broad.mit.edu	37	5	179393883	179393883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr5:179393883C>T	ENST00000261947.4	-	7	1471	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	CTC-563A5.2_ENST00000510240.1_RNA|RNF130_ENST00000522208.2_Missense_Mutation_p.R358Q|RNF130_ENST00000521389.1_Missense_Mutation_p.R358Q	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCGAAGTTCGAAGTGGCTC	0.562																																					GBM(24;432 554 38471 39699 51728)	ENST00000522208.2																			0				breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(1072-1074)cGa>cAa		ring finger protein 130							104.0	94.0	97.0					5																	179393883		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179393883C>T	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.1073G>A	5.37:g.179393883C>T	ENSP00000261947:p.Arg358Gln					RNF130_ENST00000261947.4_Missense_Mutation_p.R358Q|RNF130_ENST00000521389.1_Missense_Mutation_p.R358Q	p.R358Q			Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1091	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	358						Missense_Mutation	SNP	ENST00000261947.4	37	c.1073G>A		.	.	.	.	.	.	.	.	.	.	C	22.4	4.285305	0.80803	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.05258	3.47;3.52;3.48	5.26	5.26	0.73747	.	0.497515	0.21738	N	0.069880	T	0.06508	0.0167	L	0.29908	0.895	0.51767	D	0.999938	P;B	0.51791	0.948;0.288	B;B	0.37650	0.255;0.026	T	0.40232	-0.9574	10	0.42905	T	0.14	.	18.8618	0.92275	0.0:1.0:0.0:0.0	.	375;358	Q59EL1;Q86XS8	.;GOLI_HUMAN	Q	358	ENSP00000429509:R358Q;ENSP00000430237:R358Q;ENSP00000261947:R358Q	ENSP00000261947:R358Q	R	-	2	0	RNF130	179326489	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	4.728000	0.62000	2.435000	0.82474	0.491000	0.48974	CGA		0.562	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		12	49	0	0	0	0.411799	0	12	49				
CCDC108	255101	broad.mit.edu	37	2	219868992	219868992	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr2:219868992G>A	ENST00000341552.5	-	33	5320	c.5237C>T	c.(5236-5238)cCg>cTg	p.P1746L	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1746L|MIR375_ENST00000362103.2_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.P1746L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1746						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCTTCCTTCGGCTGCTTGCC	0.532																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(5236-5238)cCg>cTg		coiled-coil domain containing 108							178.0	167.0	170.0					2																	219868992		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219868992G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5237C>T	2.37:g.219868992G>A	ENSP00000340776:p.Pro1746Leu					CCDC108_ENST00000453220.1_Missense_Mutation_p.P1746L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1746L|AC097468.4_ENST00000441450.1_RNA	p.P1746L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	33	5320	-		Renal(207;0.0915)	1746					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.5237C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	1.165	-0.642525	0.03531	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.04706	3.57;3.57;3.57	3.28	-6.57	0.01842	.	1.604130	0.04105	N	0.313630	T	0.02380	0.0073	N	0.05441	-0.05	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45293	-0.9271	10	0.21014	T	0.42	-0.1893	7.2502	0.26146	0.3154:0.0:0.44:0.2446	.	1746	Q6ZU64	CC108_HUMAN	L	1746	ENSP00000340776:P1746L;ENSP00000413377:P1746L;ENSP00000409117:P1746L	ENSP00000340776:P1746L	P	-	2	0	CCDC108	219577236	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-1.744000	0.01832	-1.435000	0.01972	-2.566000	0.00172	CCG		0.532	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		29	66	0	0	0	0.717897	0	29	66				
FAM83B	222584	broad.mit.edu	37	6	54735366	54735366	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:54735366T>C	ENST00000306858.7	+	2	438	c.322T>C	c.(322-324)Tgg>Cgg	p.W108R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	108										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGACTTAGGCTGGCCATATGT	0.458																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(322-324)Tgg>Cgg		family with sequence similarity 83, member B							105.0	106.0	106.0					6																	54735366		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54735366T>C	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.322T>C	6.37:g.54735366T>C	ENSP00000304078:p.Trp108Arg						p.W108R	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			2	438	+	Lung NSC(77;0.0178)|Renal(3;0.122)		108					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.322T>C	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240505	0.39598	.	.	ENSG00000168143	ENST00000306858	T	0.22539	1.95	5.66	4.47	0.54385	.	0.122893	0.64402	D	0.000014	T	0.40862	0.1134	M	0.89601	3.045	0.53688	D	0.99997	D	0.60160	0.987	D	0.65573	0.936	T	0.53408	-0.8443	10	0.87932	D	0	-12.0128	12.2605	0.54647	0.1275:0.0:0.0:0.8725	.	108	Q5T0W9	FA83B_HUMAN	R	108	ENSP00000304078:W108R	ENSP00000304078:W108R	W	+	1	0	FAM83B	54843325	1.000000	0.71417	0.957000	0.39632	0.004000	0.04260	7.771000	0.85420	1.052000	0.40392	-0.480000	0.04831	TGG		0.458	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		23	83	0	0	0	0.624587	0	23	83				
AGA	175	broad.mit.edu	37	4	178361475	178361475	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:178361475C>T	ENST00000264595.2	-	2	360	c.233G>A	c.(232-234)aGt>aAt	p.S78N	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	78					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TTCATCAGGACTTCCTCCAAA	0.493																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(232-234)aGt>aAt		aspartylglucosaminidase							201.0	187.0	192.0					4																	178361475		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178361475C>T	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.233G>A	4.37:g.178361475C>T	ENSP00000264595:p.Ser78Asn					AGA_ENST00000506853.1_5'UTR	p.S78N	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	2	360	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	78					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.233G>A	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252149	0.80135	.	.	ENSG00000038002	ENST00000264595	D	0.88586	-2.4	5.6	4.74	0.60224	.	0.071626	0.85682	D	0.000000	D	0.90683	0.7077	L	0.56769	1.78	0.80722	D	1	P	0.35959	0.53	P	0.48840	0.592	D	0.90138	0.4211	10	0.52906	T	0.07	-3.5537	13.9371	0.64032	0.0:0.9261:0.0:0.0739	.	78	P20933	ASPG_HUMAN	N	78	ENSP00000264595:S78N	ENSP00000264595:S78N	S	-	2	0	AGA	178598469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.527000	0.60573	2.793000	0.96121	0.563000	0.77884	AGT		0.493	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		27	85	0	0	0	0.729181	0	27	85				
GABRA1	2554	broad.mit.edu	37	5	161324340	161324340	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr5:161324340C>T	ENST00000428797.2	+	11	1638	c.1283C>T	c.(1282-1284)cCg>cTg	p.P428L	GABRA1_ENST00000437025.2_Missense_Mutation_p.P428L|GABRA1_ENST00000444819.1_Missense_Mutation_p.P428L|GABRA1_ENST00000420560.1_Missense_Mutation_p.P428L|GABRA1_ENST00000023897.6_Missense_Mutation_p.P428L|GABRA1_ENST00000393943.4_Missense_Mutation_p.P428L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	428					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATAGCCTTCCCGCTGCTATTT	0.423																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1282-1284)cCg>cTg		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						146.0	147.0	147.0					5																	161324340		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324340C>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1283C>T	5.37:g.161324340C>T	ENSP00000393097:p.Pro428Leu					GABRA1_ENST00000444819.1_Missense_Mutation_p.P428L|GABRA1_ENST00000393943.4_Missense_Mutation_p.P428L|GABRA1_ENST00000023897.6_Missense_Mutation_p.P428L|GABRA1_ENST00000437025.2_Missense_Mutation_p.P428L|GABRA1_ENST00000420560.1_Missense_Mutation_p.P428L	p.P428L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1638	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	428					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1283C>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949699	0.92660	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91676	0.7369	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92846	0.6293	10	0.87932	D	0	.	19.3564	0.94416	0.0:1.0:0.0:0.0	.	428	P14867	GBRA1_HUMAN	L	428	ENSP00000023897:P428L;ENSP00000393097:P428L;ENSP00000377517:P428L;ENSP00000415441:P428L;ENSP00000408041:P428L;ENSP00000414232:P428L	ENSP00000023897:P428L	P	+	2	0	GABRA1	161256918	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.684000	0.84104	2.642000	0.89623	0.563000	0.77884	CCG		0.423	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		34	78	0	0	0	0.750413	0	34	78				
SNPH	9751	broad.mit.edu	37	20	1286246	1286246	+	Missense_Mutation	SNP	G	G	T	rs140720029		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr20:1286246G>T	ENST00000381873.3	+	6	1269	c.1033G>T	c.(1033-1035)Ggg>Tgg	p.G345W	SNPH_ENST00000381867.1_Missense_Mutation_p.G389W	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	345					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCCTGAGTCAGGGGACAGGTG	0.622																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1165-1167)Ggg>Tgg		syntaphilin							68.0	68.0	68.0					20																	1286246		2203	4300	6503	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1286246G>T		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.1033G>T	20.37:g.1286246G>T	ENSP00000371297:p.Gly345Trp					SNPH_ENST00000381873.3_Missense_Mutation_p.G345W	p.G389W			O15079	SNPH_HUMAN			7	1807	+			345					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.1165G>T	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756694	0.31137	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.75	2.79	0.32731	.	0.357573	0.25352	N	0.031285	T	0.27524	0.0676	L	0.34521	1.04	0.09310	N	1	P;P	0.37548	0.599;0.599	B;B	0.39379	0.298;0.298	T	0.13176	-1.0519	9	0.72032	D	0.01	.	7.7175	0.28712	0.2663:0.0:0.7337:0.0	.	389;345	O15079-2;O15079	.;SNPH_HUMAN	W	345;389	.	ENSP00000371291:G389W	G	+	1	0	SNPH	1234246	0.000000	0.05858	0.050000	0.19076	0.843000	0.47879	0.803000	0.27083	0.592000	0.29728	0.561000	0.74099	GGG		0.622	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		4	91	1	0	0.00909568	0.150653	0.00948	4	91				
RECK	8434	broad.mit.edu	37	9	36102223	36102223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:36102223C>A	ENST00000377966.3	+	12	1997	c.1431C>A	c.(1429-1431)taC>taA	p.Y477*		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	477					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGGATACATACCTCAGTAAGT	0.343																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(1429-1431)taC>taA		reversion-inducing-cysteine-rich protein with kazal motifs							123.0	127.0	125.0					9																	36102223		2203	4300	6503	SO:0001587	stop_gained	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36102223C>A	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1431C>A	9.37:g.36102223C>A	ENSP00000367202:p.Tyr477*						p.Y477*	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		12	1997	+			477					B2RNS1|Q5W0K6|Q8WX37	Nonsense_Mutation	SNP	ENST00000377966.3	37	c.1431C>A	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	42	9.264261	0.99118	.	.	ENSG00000122707	ENST00000377966	.	.	.	5.46	0.82	0.18793	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7702	7.0587	0.25113	0.0:0.4222:0.0:0.5778	.	.	.	.	X	477	.	ENSP00000367202:Y477X	Y	+	3	2	RECK	36092223	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	0.733000	0.26087	0.318000	0.23185	-0.137000	0.14449	TAC		0.343	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			9	50	1	0	3.86212e-05	0.361761	4.20289e-05	9	50				
RFX6	222546	broad.mit.edu	37	6	117248565	117248565	+	Missense_Mutation	SNP	C	C	T	rs563217936		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:117248565C>T	ENST00000332958.2	+	17	2277	c.2261C>T	c.(2260-2262)cCg>cTg	p.P754L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	754					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCCCGGCCACCGTCTAGCTAT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		17555	0.001		0.0	False		,,,				2504	0.0					ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(2260-2262)cCg>cTg		regulatory factor X, 6							57.0	54.0	55.0					6																	117248565		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117248565C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2261C>T	6.37:g.117248565C>T	ENSP00000332208:p.Pro754Leu						p.P754L	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			17	2277	+			754					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.2261C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678815	0.47886	.	.	ENSG00000185002	ENST00000332958	T	0.59772	0.24	5.3	5.3	0.74995	.	0.315056	0.35096	N	0.003454	T	0.38532	0.1044	L	0.51422	1.61	0.47441	D	0.999429	P	0.41784	0.762	B	0.27887	0.084	T	0.53634	-0.8411	10	0.66056	D	0.02	-11.2078	19.1556	0.93509	0.0:1.0:0.0:0.0	.	754	Q8HWS3	RFX6_HUMAN	L	754	ENSP00000332208:P754L	ENSP00000332208:P754L	P	+	2	0	RFX6	117355258	0.953000	0.32496	1.000000	0.80357	0.896000	0.52359	3.475000	0.53136	2.758000	0.94735	0.655000	0.94253	CCG		0.517	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		7	35	0	0	0	0.278610	0	7	35				
EDN2	1907	broad.mit.edu	37	1	41948222	41948222	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:41948222G>A	ENST00000372587.4	-	3	328	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	87					artery smooth muscle contraction (GO:0014824)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|energy homeostasis (GO:0097009)|hormonal regulation of the force of heart contraction (GO:0003058)|inositol phosphate-mediated signaling (GO:0048016)|lung alveolus development (GO:0048286)|macrophage activation (GO:0042116)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of the force of heart contraction by chemical signal (GO:0003099)|prostaglandin biosynthetic process (GO:0001516)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|temperature homeostasis (GO:0001659)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCGCCGGCGTCTTGGCGGG	0.642																																						ENST00000372587.4																			0				endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(259-261)Cgc>Tgc		endothelin 2							24.0	32.0	29.0					1																	41948222		2196	4289	6485	SO:0001583	missense	1907				artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	g.chr1:41948222G>A	M65199	CCDS462.1	1p34	2013-02-26			ENSG00000127129	ENSG00000127129		"""Endogenous ligands"""	3177	protein-coding gene	gene with protein product		131241					Standard	NM_001956		Approved	ET2	uc009vwh.3	P20800	OTTHUMG00000006362	ENST00000372587.4:c.259C>T	1.37:g.41948222G>A	ENSP00000361668:p.Arg87Cys					EDN2_ENST00000490783.1_5'UTR	p.R87C	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN			3	328	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	87					Q5T1R3	Missense_Mutation	SNP	ENST00000372587.4	37	c.259C>T	CCDS462.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262773	0.80358	.	.	ENSG00000127129	ENST00000372587	D	0.85339	-1.97	5.29	5.29	0.74685	.	0.111688	0.64402	D	0.000006	D	0.92264	0.7546	M	0.81942	2.565	0.54753	D	0.999989	D	0.89917	1.0	D	0.79108	0.992	D	0.92715	0.6186	10	0.66056	D	0.02	-25.2077	15.7831	0.78275	0.0:0.0:1.0:0.0	.	87	P20800	EDN2_HUMAN	C	87	ENSP00000361668:R87C	ENSP00000361668:R87C	R	-	1	0	EDN2	41720809	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.619000	0.61218	2.744000	0.94065	0.655000	0.94253	CGC		0.642	EDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000016983.1	NM_001956		9	24	0	0	0	0.307466	0	9	24				
CXorf57	55086	broad.mit.edu	37	X	105855370	105855370	+	Silent	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:105855370G>A	ENST00000372548.4	+	1	169	c.60G>A	c.(58-60)ccG>ccA	p.P20P	CXorf57_ENST00000372544.2_Silent_p.P20P	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	20							poly(A) RNA binding (GO:0044822)	p.P20P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TAGATTGGCCGAACCCTGAGA	0.572																																						ENST00000372548.4																			1	Substitution - coding silent(1)	p.P20P(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(58-60)ccG>ccA		chromosome X open reading frame 57							68.0	70.0	69.0					X																	105855370		2203	4300	6503	SO:0001819	synonymous_variant	55086							g.chrX:105855370G>A	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.60G>A	X.37:g.105855370G>A						CXorf57_ENST00000372544.2_Silent_p.P20P	p.P20P	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN			1	169	+			20					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	ENST00000372548.4	37	c.60G>A	CCDS14519.1																																																																																				0.572	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		27	85	0	0	0	0.681144	0	27	85				
CEP128	145508	broad.mit.edu	37	14	81329142	81329142	+	Missense_Mutation	SNP	G	G	A	rs200105295		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr14:81329142G>A	ENST00000555265.1	-	9	1096	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	CEP128_ENST00000281129.3_Missense_Mutation_p.R241C|CEP128_ENST00000216517.6_Missense_Mutation_p.R241C			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	241						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.R241C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGATCCTGGCGTCTTTCCACC	0.463																																						ENST00000555265.1																			1	Substitution - Missense(1)	p.R241C(1)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(721-723)Cgc>Tgc		centrosomal protein 128kDa							135.0	117.0	123.0					14																	81329142		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81329142G>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.721C>T	14.37:g.81329142G>A	ENSP00000451162:p.Arg241Cys					CEP128_ENST00000216517.6_Missense_Mutation_p.R241C|CEP128_ENST00000281129.3_Missense_Mutation_p.R241C	p.R241C			Q6ZU80	CE128_HUMAN			9	1096	-			241					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.721C>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981040	0.53827	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	T;T;T	0.56444	1.11;1.11;0.46	6.08	6.08	0.98989	.	0.155258	0.45606	D	0.000341	T	0.72112	0.3420	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.982;0.994;0.996	T	0.70901	-0.4746	10	0.59425	D	0.04	.	19.4349	0.94788	0.0:0.0:1.0:0.0	.	241;122;241	Q6ZU80-3;Q8N3Z7;Q6ZU80	.;.;CE128_HUMAN	C	241	ENSP00000281129:R241C;ENSP00000451162:R241C;ENSP00000216517:R241C	ENSP00000216517:R241C	R	-	1	0	CEP128	80398895	1.000000	0.71417	0.967000	0.41034	0.022000	0.10575	5.208000	0.65203	2.894000	0.99253	0.655000	0.94253	CGC		0.463	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		18	68	0	0	0	0.557998	0	18	68				
OR10J3	441911	broad.mit.edu	37	1	159283478	159283478	+	Silent	SNP	C	C	T	rs201786076		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:159283478C>T	ENST00000332217.5	-	1	971	c.972G>A	c.(970-972)gcG>gcA	p.A324A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A324A(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TATTTATAAACGCAAAGGAAA	0.398																																						ENST00000332217.5																			1	Substitution - coding silent(1)	p.A324A(1)	large_intestine(1)	breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(970-972)gcG>gcA		olfactory receptor, family 10, subfamily J, member 3		C		0,4406		0,0,2203	49.0	54.0	53.0		972	-7.7	0.0	1		53	1,8597		0,1,4298	no	coding-synonymous	OR10J3	NM_001004467.1		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		324/330	159283478	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283478C>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.972G>A	1.37:g.159283478C>T							p.A324A	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	971	-	all_hematologic(112;0.0429)		324						Silent	SNP	ENST00000332217.5	37	c.972G>A	CCDS30909.1																																																																																				0.398	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			7	60	0	0	0	0.248553	0	7	60				
RIPK4	54101	broad.mit.edu	37	21	43161994	43161994	+	Silent	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr21:43161994G>A	ENST00000352483.2	-	9	1567	c.1503C>T	c.(1501-1503)tgC>tgT	p.C501C	RIPK4_ENST00000332512.3_Silent_p.C453C|RIPK4_ENST00000544709.1_Silent_p.C390C|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Silent_p.C390C			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	501					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C453C(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCACTTGGCGCACTCCTCTT	0.657																																						ENST00000352483.2																			1	Substitution - coding silent(1)	p.C453C(1)	central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1501-1503)tgC>tgT		receptor-interacting serine-threonine kinase 4							89.0	90.0	90.0					21																	43161994		2203	4299	6502	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161994G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1503C>T	21.37:g.43161994G>A						RIPK4_ENST00000544709.1_Silent_p.C390C|RIPK4_ENST00000332512.3_Silent_p.C453C|RIPK4_ENST00000542057.1_Silent_p.C390C	p.C501C			Q96T11	Q96T11_HUMAN			9	1567	-			453					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1503C>T																																																																																					0.657	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		31	69	0	0	0	0.779181	0	31	69				
PNMA5	114824	broad.mit.edu	37	X	152159963	152159963	+	Silent	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:152159963G>A	ENST00000439251.1	-	2	618	c.180C>T	c.(178-180)gaC>gaT	p.D60D	PNMA5_ENST00000361887.5_Silent_p.D60D|PNMA5_ENST00000535214.1_Silent_p.D60D|PNMA5_ENST00000452693.1_Silent_p.D60D	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	60					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ccttggcattgtcttccctcc	0.522																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(178-180)gaC>gaT		paraneoplastic Ma antigen family member 5							155.0	131.0	139.0					X																	152159963		2203	4300	6503	SO:0001819	synonymous_variant	114824				apoptosis			g.chrX:152159963G>A	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.180C>T	X.37:g.152159963G>A						PNMA5_ENST00000452693.1_Silent_p.D60D|PNMA5_ENST00000361887.5_Silent_p.D60D|PNMA5_ENST00000535214.1_Silent_p.D60D	p.D60D	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	618	-	Acute lymphoblastic leukemia(192;6.56e-05)		60					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Silent	SNP	ENST00000439251.1	37	c.180C>T	CCDS14718.1																																																																																				0.522	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		44	106	0	0	0	0.840704	0	44	106				
MUC16	94025	broad.mit.edu	37	19	9046352	9046352	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr19:9046352G>T	ENST00000397910.4	-	5	35482	c.35279C>A	c.(35278-35280)aCt>aAt	p.T11760N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11762	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGAGTCAAAGTTGGAACAGT	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35278-35280)aCt>aAt		mucin 16, cell surface associated							126.0	122.0	123.0					19																	9046352		2014	4198	6212	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046352G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35279C>A	19.37:g.9046352G>T	ENSP00000381008:p.Thr11760Asn						p.T11760N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35482	-			11762			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35279C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.776	0.708481	0.15239	.	.	ENSG00000181143	ENST00000397910	T	0.02197	4.4	3.57	-2.42	0.06542	.	.	.	.	.	T	0.04318	0.0119	L	0.50333	1.59	.	.	.	D	0.57899	0.981	P	0.54140	0.743	T	0.30592	-0.9973	8	0.87932	D	0	.	5.3704	0.16136	0.3596:0.1538:0.4866:0.0	.	11760	B5ME49	.	N	11760	ENSP00000381008:T11760N	ENSP00000381008:T11760N	T	-	2	0	MUC16	8907352	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-1.003000	0.03682	-0.343000	0.08351	0.556000	0.70494	ACT		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	69	1	0	1.5842e-08	0.435327	1.77622e-08	14	69				
SAGE1	55511	broad.mit.edu	37	X	134994995	134994995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:134994995C>T	ENST00000370709.3	+	19	2654	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	SAGE1_ENST00000535938.1_Missense_Mutation_p.A885V|SAGE1_ENST00000324447.3_Missense_Mutation_p.A885V|SAGE1_ENST00000537770.1_Missense_Mutation_p.A509V			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	885						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTCGAGAAGGCGCTTAAAGAA	0.368																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2653-2655)gCg>gTg		sarcoma antigen 1							51.0	45.0	47.0					X																	134994995		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134994995C>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2654C>T	X.37:g.134994995C>T	ENSP00000359743:p.Ala885Val					SAGE1_ENST00000370709.3_Missense_Mutation_p.A885V|SAGE1_ENST00000537770.1_Missense_Mutation_p.A509V|SAGE1_ENST00000324447.3_Missense_Mutation_p.A885V	p.A885V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			20	2821	+	Acute lymphoblastic leukemia(192;0.000127)		885					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2654C>T	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.794449	0.00617	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.28069	1.63;1.63;1.67;1.63	2.15	-1.63	0.08345	.	0.775342	0.11544	N	0.553409	T	0.04679	0.0127	N	0.00260	-1.75	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32613	-0.9900	10	0.02654	T	1	.	2.3255	0.04222	0.2432:0.1563:0.0:0.6005	.	509;885	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	V	885;885;509;885	ENSP00000323191:A885V;ENSP00000445959:A885V;ENSP00000438276:A509V;ENSP00000359743:A885V	ENSP00000323191:A885V	A	+	2	0	SAGE1	134822661	0.000000	0.05858	0.001000	0.08648	0.102000	0.19082	-0.381000	0.07417	-0.502000	0.06596	-1.147000	0.01851	GCG		0.368	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		7	31	0	0	0	0.248553	0	7	31				
ZNF518B	85460	broad.mit.edu	37	4	10445887	10445887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:10445887C>T	ENST00000326756.3	-	3	2504	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	689					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TACAGAGCGACGATGTGCACT	0.448																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2065-2067)cGt>cAt		zinc finger protein 518B							103.0	103.0	103.0					4																	10445887		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445887C>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2066G>A	4.37:g.10445887C>T	ENSP00000317614:p.Arg689His						p.R689H	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2504	-			689					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2066G>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669047	0.88348	.	.	ENSG00000178163	ENST00000326756	T	0.01745	4.66	6.17	4.22	0.49857	.	0.903568	0.09425	N	0.803800	T	0.04318	0.0119	L	0.40543	1.245	0.09310	N	1	D	0.76494	0.999	P	0.56088	0.791	T	0.49652	-0.8917	10	0.52906	T	0.07	-4.7843	7.4316	0.27131	0.1683:0.7271:0.0:0.1045	.	689	Q9C0D4	Z518B_HUMAN	H	689	ENSP00000317614:R689H	ENSP00000317614:R689H	R	-	2	0	ZNF518B	10054985	0.015000	0.18098	0.011000	0.14972	0.578000	0.36192	0.759000	0.26461	1.613000	0.50231	0.655000	0.94253	CGT		0.448	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		22	94	0	0	0	0.592651	0	22	94				
PRAME	23532	broad.mit.edu	37	22	22899234	22899234	+	Missense_Mutation	SNP	A	A	G	rs1129172	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr22:22899234A>G	ENST00000398741.1	-	3	325	c.19T>C	c.(19-21)Tgg>Cgg	p.W7R	PRAME_ENST00000405655.3_Missense_Mutation_p.W7R|PRAME_ENST00000406503.1_Missense_Mutation_p.W7R|PRAME_ENST00000485532.1_5'Flank|LL22NC03-63E9.3_ENST00000407120.1_5'Flank|PRAME_ENST00000543184.1_Missense_Mutation_p.W7R|PRAME_ENST00000539862.1_5'Flank|PRAME_ENST00000402697.1_Missense_Mutation_p.W7R|PRAME_ENST00000424204.2_5'Flank|PRAME_ENST00000398743.2_Missense_Mutation_p.W7R	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	7			W -> R (in dbSNP:rs2266988). {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334}.		apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.W7R(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CTTCTTACCCACAAACGCCTT	0.562													G|||	3537	0.70627	0.7564	0.6931	5008	,	,		14575	0.752		0.5944	False		,,,				2504	0.7157				Melanoma(73;1707 1838 15168 27201)	ENST00000543184.1																			2	Substitution - Missense(2)	p.W7R(2)	prostate(1)|central_nervous_system(1)	autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(19-21)Tgg>Cgg		preferentially expressed antigen in melanoma		G	ARG/TRP,ARG/TRP,ARG/TRP,ARG/TRP,ARG/TRP	3252,1154	408.6+/-334.7	1206,840,157	186.0	164.0	171.0		19,19,19,19,19	2.8	0.4	22	dbSNP_100	171	4922,3678	523.7+/-380.4	1402,2118,780	yes	missense,missense,missense,missense,missense	PRAME	NM_006115.3,NM_206953.1,NM_206954.1,NM_206955.1,NM_206956.1	101,101,101,101,101	2608,2958,937	GG,GA,AA		42.7674,26.1916,37.1521	benign,benign,benign,benign,benign	7/510,7/510,7/510,7/510,7/510	22899234	8174,4832	2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22899234A>G	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.19T>C	22.37:g.22899234A>G	ENSP00000381726:p.Trp7Arg					PRAME_ENST00000398741.1_Missense_Mutation_p.W7R|PRAME_ENST00000405655.3_Missense_Mutation_p.W7R|PRAME_ENST00000402697.1_Missense_Mutation_p.W7R|PRAME_ENST00000406503.1_Missense_Mutation_p.W7R|PRAME_ENST00000398743.2_Missense_Mutation_p.W7R	p.W7R	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	2	881	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	7		W -> R (in dbSNP:rs2266988).			B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.19T>C	CCDS13801.1	1490	0.6822344322344323	378	0.7682926829268293	235	0.649171270718232	422	0.7377622377622378	455	0.600263852242744	g	0.393	-0.922440	0.02396	0.738084	0.572326	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000402697;ENST00000439106;ENST00000420709;ENST00000406503;ENST00000403441	T;T;T;T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87	2.78	2.78	0.32641	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.33482	P	0.41245699999999996	B	0.02656	0.0	B	0.01281	0.0	T	0.34054	-0.9844	8	0.02654	T	1	.	5.8996	0.18960	0.1457:0.0:0.8543:0.0	rs2266988;rs17497986;rs57013465	7	P78395	PRAME_HUMAN	R	7	ENSP00000381728:W7R;ENSP00000445675:W7R;ENSP00000381726:W7R;ENSP00000384343:W7R;ENSP00000385198:W7R;ENSP00000407320:W7R;ENSP00000412318:W7R;ENSP00000384058:W7R;ENSP00000385091:W7R	ENSP00000381726:W7R	W	-	1	0	PRAME	21229234	0.547000	0.26465	0.392000	0.26245	0.002000	0.02628	0.671000	0.25172	0.765000	0.33221	-0.213000	0.12676	TGG		0.562	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		3	152	0	0	0	0.115264	0	3	152				
ZNF282	8427	broad.mit.edu	37	7	148910879	148910879	+	Missense_Mutation	SNP	G	G	A	rs552085439		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:148910879G>A	ENST00000262085.3	+	7	1258	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	ZNF282_ENST00000479907.1_Missense_Mutation_p.G385R	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	385					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCAATGGACGGAGAGCTTGG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		20216	0.0		0.0	False		,,,				2504	0.001					ENST00000262085.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1153-1155)Gga>Aga		zinc finger protein 282							128.0	89.0	102.0					7																	148910879		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148910879G>A	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1153G>A	7.37:g.148910879G>A	ENSP00000262085:p.Gly385Arg					ZNF282_ENST00000479907.1_Missense_Mutation_p.G385R	p.G385R	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	7	1258	+	Melanoma(164;0.15)		385					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.1153G>A	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	3.427	-0.116910	0.06838	.	.	ENSG00000170265	ENST00000262085;ENST00000479907	T;T	0.05855	3.38;5.24	4.99	3.85	0.44370	.	0.134189	0.34025	N	0.004325	T	0.02929	0.0087	N	0.04959	-0.14	0.32811	D	0.501407	B;B;B	0.29232	0.238;0.086;0.238	B;B;B	0.22753	0.028;0.009;0.041	T	0.25152	-1.0140	10	0.33141	T	0.24	-13.5921	8.7768	0.34767	0.1445:0.0:0.8555:0.0	.	385;357;385	B4DRI5;Q7Z2V4;Q9UDV7	.;.;ZN282_HUMAN	R	385	ENSP00000262085:G385R;ENSP00000418840:G385R	ENSP00000262085:G385R	G	+	1	0	ZNF282	148541812	0.545000	0.26449	0.617000	0.29091	0.011000	0.07611	0.834000	0.27518	2.467000	0.83353	0.591000	0.81541	GGA		0.542	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		3	30	0	0	0	0.115264	0	3	30				
A2ML1	144568	broad.mit.edu	37	12	9004550	9004550	+	Missense_Mutation	SNP	G	G	A	rs201562272	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:9004550G>A	ENST00000299698.7	+	19	2585	c.2405G>A	c.(2404-2406)cGt>cAt	p.R802H	A2ML1_ENST00000539547.1_Missense_Mutation_p.R311H	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCAGTAGTCCGTGGGGAATCC	0.502																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(2404-2406)cGt>cAt		alpha-2-macroglobulin-like 1		G	HIS/ARG	0,3900		0,0,1950	191.0	179.0	183.0		2405	3.8	1.0	12		183	4,8290		0,4,4143	yes	missense	A2ML1	NM_144670.3	29	0,4,6093	AA,AG,GG		0.0482,0.0,0.0328	probably-damaging	802/1455	9004550	4,12190	1950	4147	6097	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9004550G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2405G>A	12.37:g.9004550G>A	ENSP00000299698:p.Arg802His					A2ML1_ENST00000539547.1_Missense_Mutation_p.R311H	p.R802H	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			19	2585	+			646						Missense_Mutation	SNP	ENST00000299698.7	37	c.2405G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	19.58	3.855088	0.71719	0.0	4.82E-4	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.31247	1.5;1.5;1.5	3.85	3.85	0.44370	Alpha-2-macroglobulin (1);	0.149997	0.31884	N	0.006919	T	0.56455	0.1986	M	0.86573	2.825	0.36873	D	0.889032	D	0.89917	1.0	D	0.91635	0.999	T	0.66340	-0.5948	10	0.52906	T	0.07	.	9.6697	0.40004	0.1035:0.0:0.8965:0.0	.	802	A8K2U0	A2ML1_HUMAN	H	802;802;352;311	ENSP00000299698:R802H;ENSP00000443174:R352H;ENSP00000438292:R311H	ENSP00000299698:R802H	R	+	2	0	A2ML1	8895817	1.000000	0.71417	0.988000	0.46212	0.721000	0.41392	2.839000	0.48207	2.167000	0.68274	0.442000	0.29010	CGT		0.502	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		28	93	0	0	0	0.769981	0	28	93				
RRAS2	22800	broad.mit.edu	37	11	14303174	14303174	+	Silent	SNP	A	A	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr11:14303174A>C	ENST00000256196.4	-	5	814	c.501T>G	c.(499-501)gcT>gcG	p.A167A	RRAS2_ENST00000534746.1_Silent_p.A90A|RRAS2_ENST00000537760.1_Silent_p.A132A|RRAS2_ENST00000545643.1_Silent_p.A173A|RRAS2_ENST00000526063.1_Silent_p.A90A|RRAS2_ENST00000532814.1_Silent_p.A90A|RRAS2_ENST00000414023.2_Silent_p.A90A|RRAS2_ENST00000529237.1_Silent_p.A90A			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	167					osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		GTTCATGGAAAGCTTGATCTA	0.348																																						ENST00000545643.1																			0				breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.(517-519)gcT>gcG		related RAS viral (r-ras) oncogene homolog 2							256.0	214.0	228.0					11																	14303174		2200	4294	6494	SO:0001819	synonymous_variant	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14303174A>C	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.501T>G	11.37:g.14303174A>C						RRAS2_ENST00000537760.1_Silent_p.A132A|RRAS2_ENST00000529237.1_Silent_p.A90A|RRAS2_ENST00000256196.4_Silent_p.A167A|RRAS2_ENST00000532814.1_Silent_p.A90A|RRAS2_ENST00000534746.1_Silent_p.A90A|RRAS2_ENST00000414023.2_Silent_p.A90A|RRAS2_ENST00000526063.1_Silent_p.A90A	p.A173A	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	5	832	-			167					B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Silent	SNP	ENST00000256196.4	37	c.519T>G	CCDS7814.1																																																																																				0.348	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		18	64	0	0	0	0.557998	0	18	64				
ZNF804B	219578	broad.mit.edu	37	7	88965634	88965634	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:88965634A>G	ENST00000333190.4	+	4	3947	c.3338A>G	c.(3337-3339)aAt>aGt	p.N1113S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1113							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTAGAGGGAAATATAAACTCT	0.353										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(3337-3339)aAt>aGt		zinc finger protein 804B							50.0	50.0	50.0					7																	88965634		2203	4299	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965634A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3338A>G	7.37:g.88965634A>G	ENSP00000329638:p.Asn1113Ser	HNSCC(36;0.09)					p.N1113S	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3947	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1113					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3338A>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	8.163	0.790013	0.16258	.	.	ENSG00000182348	ENST00000333190	T	0.05025	3.51	4.88	1.0	0.19881	.	0.357306	0.27240	N	0.020271	T	0.02970	0.0088	N	0.19112	0.55	0.26334	N	0.977469	B	0.23540	0.087	B	0.20577	0.03	T	0.46331	-0.9199	10	0.06099	T	0.92	-4.6798	5.8169	0.18497	0.5845:0.2627:0.1528:0.0	.	1113	A4D1E1	Z804B_HUMAN	S	1113	ENSP00000329638:N1113S	ENSP00000329638:N1113S	N	+	2	0	ZNF804B	88803570	0.396000	0.25262	0.975000	0.42487	0.944000	0.59088	1.125000	0.31332	0.075000	0.16796	0.533000	0.62120	AAT		0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		16	68	0	0	0	0.479597	0	16	68				
OR2L8	391190	broad.mit.edu	37	1	248112581	248112581	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:248112581T>A	ENST00000357191.3	+	1	422	c.422T>A	c.(421-423)gTg>gAg	p.V141E	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGAGTGTGTGTGCTGATGATA	0.448																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(421-423)gTg>gAg		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							299.0	245.0	263.0					1																	248112581		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112581T>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.422T>A	1.37:g.248112581T>A	ENSP00000349719:p.Val141Glu					OR2L13_ENST00000366478.2_Intron	p.V141E	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	422	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		141					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.422T>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	15.90	2.969804	0.53614	.	.	ENSG00000196936	ENST00000357191	T	0.39406	1.08	1.64	0.402	0.16344	GPCR, rhodopsin-like superfamily (1);	0.336362	0.16794	U	0.199247	T	0.54727	0.1876	M	0.88979	2.995	0.09310	N	1	P	0.46064	0.872	P	0.51742	0.678	T	0.49093	-0.8975	10	0.59425	D	0.04	.	5.731	0.18040	0.0:0.2954:0.0:0.7046	.	141	Q8NGY9	OR2L8_HUMAN	E	141	ENSP00000349719:V141E	ENSP00000349719:V141E	V	+	2	0	OR2L8	246179204	0.000000	0.05858	0.287000	0.24848	0.785000	0.44390	-2.720000	0.00812	-0.042000	0.13535	0.392000	0.25879	GTG		0.448	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			49	133	0	0	0	0.870114	0	49	133				
MXRA5	25878	broad.mit.edu	37	X	3228242	3228242	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:3228242G>A	ENST00000217939.6	-	7	8156	c.8002C>T	c.(8002-8004)Cgt>Tgt	p.R2668C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2668	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGGAGAAACGTCCCTGCCCA	0.592																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(8002-8004)Cgt>Tgt		matrix-remodelling associated 5							58.0	56.0	57.0					X																	3228242		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3228242G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8002C>T	X.37:g.3228242G>A	ENSP00000217939:p.Arg2668Cys						p.R2668C	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	8156	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2668			Ig-like C2-type 11.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.8002C>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	9.663	1.144570	0.21288	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.13420	2.59	4.47	1.17	0.20885	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.457234	0.15734	U	0.247241	T	0.33904	0.0879	M	0.83483	2.645	0.09310	N	1	D	0.89917	1.0	D	0.65874	0.939	T	0.04976	-1.0914	10	0.62326	D	0.03	.	9.2082	0.37302	0.0:0.1364:0.5771:0.2865	.	2668	Q9NR99	MXRA5_HUMAN	C	2668	ENSP00000217939:R2668C	ENSP00000217939:R2668C	R	-	1	0	MXRA5	3238242	0.103000	0.21917	0.001000	0.08648	0.000000	0.00434	2.613000	0.46351	0.707000	0.31934	-0.242000	0.12053	CGT		0.592	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		29	56	0	0	0	0.750413	0	29	56				
KRT3	3850	broad.mit.edu	37	12	53187985	53187985	+	Missense_Mutation	SNP	C	C	T	rs199804632		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:53187985C>T	ENST00000417996.2	-	2	850	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	KRT3_ENST00000309505.3_Missense_Mutation_p.R259Q	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	259	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						CAGGTAGCTCCGCAGGTAGTT	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22317	0.0		0.0	False		,,,				2504	0.0					ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(775-777)cGg>cAg		keratin 3		C	GLN/ARG	1,4377	2.1+/-5.4	0,1,2188	162.0	179.0	173.0		776	3.8	0.0	12		173	0,8600		0,0,4300	yes	missense	KRT3	NM_057088.2	43	0,1,6488	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	259/629	53187985	1,12977	2189	4300	6489	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53187985C>T		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.776G>A	12.37:g.53187985C>T	ENSP00000413479:p.Arg259Gln					KRT3_ENST00000309505.3_Missense_Mutation_p.R259Q	p.R259Q	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			2	850	-			259			Coil 1B.|Rod.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.776G>A	CCDS44895.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	20.0	3.931241	0.73327	2.28E-4	0.0	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.92595	-3.07;-3.07	4.69	3.77	0.43336	Filament (1);	0.000000	0.42420	D	0.000715	D	0.93520	0.7932	M	0.73753	2.245	0.33964	D	0.645932	D	0.63046	0.992	P	0.58077	0.832	D	0.94631	0.7822	10	0.52906	T	0.07	.	7.8481	0.29437	0.1678:0.7505:0.0:0.0817	.	259	P12035	K2C3_HUMAN	Q	259	ENSP00000413479:R259Q;ENSP00000312206:R259Q	ENSP00000312206:R259Q	R	-	2	0	KRT3	51474252	0.001000	0.12720	0.011000	0.14972	0.805000	0.45488	1.298000	0.33412	1.281000	0.44480	0.655000	0.94253	CGG		0.532	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		29	111	0	0	0	0.740014	0	29	111				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	20	0	0	0	0.150653	0	3	20				
RNF32	140545	broad.mit.edu	37	7	156437272	156437272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:156437272G>A	ENST00000405335.1	+	4	504	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	RNF32_ENST00000392740.1_Missense_Mutation_p.R32Q|RNF32_ENST00000311822.8_Missense_Mutation_p.R32Q|RNF32_ENST00000392741.2_Missense_Mutation_p.R32Q|RNF32_ENST00000432459.2_Missense_Mutation_p.R32Q|RNF32_ENST00000317955.5_Missense_Mutation_p.R32Q|RNF32_ENST00000343665.4_Missense_Mutation_p.R32Q|RNF32_ENST00000392743.2_Missense_Mutation_p.R32Q			Q9H0A6	RNF32_HUMAN	ring finger protein 32	32						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTTCAACTTCGAAATCTTTCA	0.328																																						ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(94-96)cGa>cAa		ring finger protein 32							60.0	62.0	62.0					7																	156437272		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156437272G>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.95G>A	7.37:g.156437272G>A	ENSP00000385285:p.Arg32Gln					RNF32_ENST00000432459.2_Missense_Mutation_p.R32Q|RNF32_ENST00000311822.8_Missense_Mutation_p.R32Q|RNF32_ENST00000405335.1_Missense_Mutation_p.R32Q|RNF32_ENST00000392740.1_Missense_Mutation_p.R32Q|RNF32_ENST00000392743.2_Missense_Mutation_p.R32Q|RNF32_ENST00000343665.4_Missense_Mutation_p.R32Q|RNF32_ENST00000317955.5_Missense_Mutation_p.R32Q	p.R32Q			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	183	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	32					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.95G>A	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	G	1.082	-0.666788	0.03428	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665;ENST00000392740	D;D;D;D;D;D;D;T	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;2.07	5.08	-1.36	0.09085	.	0.939806	0.08994	N	0.864060	T	0.81635	0.4864	N	0.16098	0.37	0.09310	N	1	B;B;B;B	0.14805	0.005;0.011;0.008;0.004	B;B;B;B	0.08055	0.002;0.002;0.003;0.001	T	0.63932	-0.6525	10	0.08179	T	0.78	-0.4053	11.2559	0.49054	0.8429:0.0:0.1571:0.0	.	32;32;32;32	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	Q	32	ENSP00000385815:R32Q;ENSP00000405588:R32Q;ENSP00000315950:R32Q;ENSP00000385285:R32Q;ENSP00000308894:R32Q;ENSP00000376499:R32Q;ENSP00000376497:R32Q;ENSP00000341185:R32Q	ENSP00000308894:R32Q	R	+	2	0	RNF32	156130033	0.004000	0.15560	0.000000	0.03702	0.086000	0.17979	0.902000	0.28459	-0.139000	0.11414	0.591000	0.81541	CGA		0.328	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		12	40	0	0	0	0.387290	0	12	40				
KALRN	8997	broad.mit.edu	37	3	124393414	124393414	+	Silent	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:124393414G>A	ENST00000291478.5	+	16	2218	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	KALRN_ENST00000360013.3_Silent_p.A2382A|KALRN_ENST00000459915.1_Silent_p.A473A|KALRN_ENST00000393496.1_Silent_p.A722A|KALRN_ENST00000428018.2_Silent_p.A653A|KALRN_ENST00000462213.1_5'Flank	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2381	Poly-Gln.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCATCCTGGCGCCCCTCACCA	0.592																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7144-7146)gcG>gcA		kalirin, RhoGEF kinase							31.0	27.0	28.0					3																	124393414		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124393414G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2055G>A	3.37:g.124393414G>A						KALRN_ENST00000459915.1_Silent_p.A473A|KALRN_ENST00000291478.4_Silent_p.A685A|KALRN_ENST00000428018.2_Silent_p.A653A|KALRN_ENST00000393496.1_Silent_p.A722A	p.A2382A	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			49	7273	+			2381			SH3 2.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	c.7146G>A	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	6.799	0.516527	0.12944	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.17	-10.3	0.00346	.	.	.	.	.	T	0.49525	0.1562	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.63773	-0.6561	4	.	.	.	.	11.18	0.48623	0.7411:0.066:0.1118:0.0811	.	.	.	.	H	2351	.	.	R	+	2	0	KALRN	125876104	0.002000	0.14202	0.200000	0.23457	0.989000	0.77384	-1.267000	0.02839	-2.833000	0.00338	-0.808000	0.03180	CGC		0.592	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		3	15	0	0	0	0.150653	0	3	15				
LIG4	3981	broad.mit.edu	37	13	108863573	108863573	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr13:108863573G>C	ENST00000356922.4	-	2	316	c.44C>G	c.(43-45)cCt>cGt	p.P15R	LIG4_ENST00000405925.1_Missense_Mutation_p.P15R|LIG4_ENST00000442234.1_Missense_Mutation_p.P15R	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	15					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATCTGCAAAAGGAACGTGAGA	0.358								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(43-45)cCt>cGt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							33.0	34.0	34.0					13																	108863573		2199	4271	6470	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108863573G>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.44C>G	13.37:g.108863573G>C	ENSP00000349393:p.Pro15Arg					LIG4_ENST00000405925.1_Missense_Mutation_p.P15R|LIG4_ENST00000442234.1_Missense_Mutation_p.P15R	p.P15R	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	316	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		15					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.44C>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254826	0.95336	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.19394	2.15;2.15;2.15	6.06	6.06	0.98353	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	M	0.66378	2.025	0.80722	D	1	P	0.47604	0.898	P	0.53722	0.733	T	0.02269	-1.1185	10	0.48119	T	0.1	.	19.6068	0.95584	0.0:0.0:1.0:0.0	.	15	P49917	DNLI4_HUMAN	R	15	ENSP00000385955:P15R;ENSP00000402030:P15R;ENSP00000349393:P15R	ENSP00000349393:P15R	P	-	2	0	LIG4	107661574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.338000	0.96553	2.876000	0.98609	0.643000	0.83706	CCT		0.358	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		12	48	0	0	0	0.411799	0	12	48				
LPA	4018	broad.mit.edu	37	6	161006128	161006128	+	Silent	SNP	C	C	T	rs535318353	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:161006128C>T	ENST00000316300.5	-	26	4283	c.4239G>A	c.(4237-4239)tcG>tcA	p.S1413S	LPA_ENST00000447678.1_Silent_p.S1413S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3921	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.S1413S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTGTCATAGACGACCAAGACT	0.448													C|||	5	0.000998403	0.0	0.0	5008	,	,		19404	0.0		0.0	False		,,,				2504	0.0051					ENST00000447678.1																			1	Substitution - coding silent(1)	p.S1413S(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4237-4239)tcG>tcA		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						222.0	223.0	223.0					6																	161006128		2187	4295	6482	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161006128C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4239G>A	6.37:g.161006128C>T						LPA_ENST00000316300.5_Silent_p.S1413S	p.S1413S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	27	4359	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3921			Kringle 13.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.4239G>A	CCDS43523.1																																																																																				0.448	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		31	143	0	0	0	0.717897	0	31	143				
HEATR1	55127	broad.mit.edu	37	1	236766587	236766587	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:236766587C>G	ENST00000366582.3	-	3	346	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	HEATR1_ENST00000366579.1_Missense_Mutation_p.E78Q|HEATR1_ENST00000366581.2_Missense_Mutation_p.E78Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	78					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACACTTCGCTCCAAGGTTTTT	0.418																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(232-234)Gag>Cag		HEAT repeat containing 1							161.0	150.0	154.0					1																	236766587		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236766587C>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.232G>C	1.37:g.236766587C>G	ENSP00000355541:p.Glu78Gln					HEATR1_ENST00000366579.1_Missense_Mutation_p.E78Q|HEATR1_ENST00000366581.2_Missense_Mutation_p.E78Q	p.E78Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		3	346	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	78					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.232G>C	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794640	0.50102	.	.	ENSG00000119285	ENST00000366582;ENST00000366581;ENST00000366579	T;T;T	0.45668	0.89;0.89;0.89	5.39	5.39	0.77823	.	0.107786	0.64402	D	0.000008	T	0.35770	0.0943	L	0.45470	1.425	0.58432	D	0.999994	P	0.37864	0.61	B	0.32677	0.15	T	0.20140	-1.0284	10	0.42905	T	0.14	.	14.7344	0.69406	0.0:0.8556:0.1444:0.0	.	78	Q9H583	HEAT1_HUMAN	Q	78	ENSP00000355541:E78Q;ENSP00000355540:E78Q;ENSP00000355538:E78Q	ENSP00000355538:E78Q	E	-	1	0	HEATR1	234833210	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.696000	0.68287	2.533000	0.85409	0.563000	0.77884	GAG		0.418	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		14	48	0	0	0	0.479597	0	14	48				
RAB11FIP1	80223	broad.mit.edu	37	8	37729072	37729072	+	Missense_Mutation	SNP	G	G	T	rs146365728	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:37729072G>T	ENST00000330843.4	-	4	3260	c.3248C>A	c.(3247-3249)cCa>cAa	p.P1083Q	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1083					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGGCGGGCTTGGACTCCCATT	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3247-3249)cCa>cAa		RAB11 family interacting protein 1 (class I)							175.0	188.0	183.0					8																	37729072		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37729072G>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3248C>A	8.37:g.37729072G>T	ENSP00000331342:p.Pro1083Gln		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	p.P1083Q	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3260	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1083					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.3248C>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458579	0.26248	.	.	ENSG00000156675	ENST00000330843	T	0.14022	2.54	5.02	-0.788	0.10939	.	1.212020	0.06191	N	0.681405	T	0.13072	0.0317	L	0.53249	1.67	0.09310	N	0.999995	B;B	0.31910	0.346;0.019	B;B	0.35278	0.199;0.008	T	0.36625	-0.9740	10	0.34782	T	0.22	0.0011	1.9478	0.03360	0.2586:0.1103:0.4621:0.169	.	412;1083	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	Q	1083	ENSP00000331342:P1083Q	ENSP00000331342:P1083Q	P	-	2	0	RAB11FIP1	37848230	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.000000	0.03693	-0.058000	0.13177	-1.805000	0.00616	CCA		0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		60	186	1	0	1.34159e-35	0.870114	1.52735e-35	60	186				
SNX7	51375	broad.mit.edu	37	1	99157205	99157205	+	Missense_Mutation	SNP	A	A	G	rs199721724		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:99157205A>G	ENST00000306121.3	+	4	598	c.589A>G	c.(589-591)Act>Gct	p.T197A	SNX7_ENST00000370189.5_Missense_Mutation_p.T133A|SNX7_ENST00000529992.1_Intron	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	133					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TGATCATCCAACTTTAACATT	0.328																																						ENST00000370189.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(397-399)Act>Gct		sorting nexin 7							76.0	78.0	77.0					1																	99157205		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99157205A>G	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.589A>G	1.37:g.99157205A>G	ENSP00000304429:p.Thr197Ala					SNX7_ENST00000529992.1_Intron|SNX7_ENST00000306121.3_Missense_Mutation_p.T197A	p.T133A			Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	5	761	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	133			PX.		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.397A>G	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	15.90	2.968592	0.53614	.	.	ENSG00000162627	ENST00000370189;ENST00000306121	T;T	0.38560	1.13;1.13	5.71	5.71	0.89125	.	0.155163	0.64402	D	0.000017	T	0.20251	0.0487	N	0.21373	0.66	0.43902	D	0.996531	B;B	0.28082	0.2;0.11	B;B	0.29716	0.106;0.044	T	0.07712	-1.0758	10	0.49607	T	0.09	-22.29	15.9776	0.80083	1.0:0.0:0.0:0.0	.	197;133	Q9UNH6-3;Q9UNH6-2	.;.	A	133;197	ENSP00000359208:T133A;ENSP00000304429:T197A	ENSP00000304429:T197A	T	+	1	0	SNX7	98929793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.621000	0.54210	2.189000	0.69895	0.528000	0.53228	ACT		0.328	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			11	43	0	0	0	0.361761	0	11	43				
TRIM69	140691	broad.mit.edu	37	15	45050860	45050860	+	Silent	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr15:45050860T>C	ENST00000559390.1	+	5	1549	c.621T>C	c.(619-621)ttT>ttC	p.F207F	TRIM69_ENST00000329464.4_Silent_p.F207F|TRIM69_ENST00000560442.1_Silent_p.F3F|TRIM69_ENST00000558329.1_Silent_p.F3F|TRIM69_ENST00000558173.1_Silent_p.F3F|TRIM69_ENST00000338264.4_Silent_p.F48F|TRIM69_ENST00000561043.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	207					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCATGGAGTTTCTAAAGCTGC	0.463																																					Pancreas(84;519 1450 1802 20427 34706)	ENST00000558173.1																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20						c.(7-9)ttT>ttC		tripartite motif containing 69							74.0	69.0	71.0					15																	45050860		2198	4298	6496	SO:0001819	synonymous_variant	0				apoptosis	nuclear speck	zinc ion binding	g.chr15:45050860T>C	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.621T>C	15.37:g.45050860T>C						TRIM69_ENST00000560442.1_Silent_p.F3F|TRIM69_ENST00000338264.4_Silent_p.F48F|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000559390.1_Silent_p.F207F|TRIM69_ENST00000558329.1_Silent_p.F3F|TRIM69_ENST00000329464.4_Silent_p.F207F	p.F3F			Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	2	4754	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	207			Necessary for nuclear localization (By similarity).		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Silent	SNP	ENST00000559390.1	37	c.9T>C	CCDS32220.1																																																																																				0.463	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			14	37	0	0	0	0.479597	0	14	37				
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:19369427G>A	ENST00000422285.2	+	4	425	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000379806.5_Missense_Mutation_p.G145D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CTGGAGGCCGGCATCAACCCC	0.507																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(433-435)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						102.0	94.0	97.0					X																	19369427		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369427G>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.320G>A	X.37:g.19369427G>A	ENSP00000394382:p.Gly107Asp					PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D	p.G145D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			5	579	+	Hepatocellular(33;0.183)		107					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.434G>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770754	0.69992	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	5.42	5.42	0.78866	Dehydrogenase, E1 component (1);	0.222797	0.44688	D	0.000430	D	0.97356	0.9135	L	0.49640	1.575	0.37880	D	0.93034	P;P;P;P;P	0.51537	0.464;0.9;0.946;0.46;0.946	B;D;P;P;P	0.63877	0.219;0.919;0.824;0.753;0.824	D	0.99107	1.0845	10	0.72032	D	0.01	-10.0855	13.15	0.59484	0.0:0.307:0.693:0.0	.	107;114;107;145;107	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	145;114;107;145;107;114;107	ENSP00000369134:G145D;ENSP00000438550:G114D;ENSP00000440761:G107D;ENSP00000406473:G145D;ENSP00000394382:G107D;ENSP00000348062:G114D;ENSP00000369133:G107D	ENSP00000348062:G114D	G	+	2	0	PDHA1	19279348	1.000000	0.71417	0.749000	0.31150	0.954000	0.61252	4.260000	0.58835	2.419000	0.82065	0.529000	0.55759	GGC		0.507	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			4	114	0	0	0	0.184627	0	4	114				
FANCE	2178	broad.mit.edu	37	6	35427183	35427183	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:35427183C>A	ENST00000229769.2	+	6	1374	c.1189C>A	c.(1189-1191)Cct>Act	p.P397T		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	397					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATATACATACCCTGTCTGCAG	0.567			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(1189-1191)Cct>Act	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E							119.0	107.0	111.0					6																	35427183		2203	4300	6503	SO:0001583	missense	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35427183C>A	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.1189C>A	6.37:g.35427183C>A	ENSP00000229769:p.Pro397Thr						p.P397T	NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN			6	1374	+			397					A8K907|Q4ZGH2	Missense_Mutation	SNP	ENST00000229769.2	37	c.1189C>A	CCDS4805.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753076	0.49362	.	.	ENSG00000112039	ENST00000229769	T	0.61392	0.11	4.88	-0.0262	0.13931	Fanconi Anaemia group E protein, C-terminal (1);	0.361006	0.32204	N	0.006426	T	0.44074	0.1276	M	0.61703	1.905	0.09310	N	0.999994	P	0.46784	0.884	P	0.53722	0.733	T	0.43310	-0.9399	10	0.72032	D	0.01	-2.1628	5.0619	0.14560	0.0:0.4245:0.3178:0.2577	.	397	Q9HB96	FANCE_HUMAN	T	397	ENSP00000229769:P397T	ENSP00000229769:P397T	P	+	1	0	FANCE	35535161	0.000000	0.05858	0.101000	0.21167	0.920000	0.55202	-0.117000	0.10708	-0.216000	0.10048	-0.126000	0.14955	CCT		0.567	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			4	58	1	0	0.00909568	0.150653	0.00948	4	58				
PPP1R17	10842	broad.mit.edu	37	7	31746856	31746856	+	Missense_Mutation	SNP	G	G	A	rs367827815		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:31746856G>A	ENST00000342032.3	+	5	1055	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	PPP1R17_ENST00000409146.3_Missense_Mutation_p.V92M|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	143					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.V143M(1)									CAAAGCAATCGTGGAAGATGA	0.433																																						ENST00000342032.3																			1	Substitution - Missense(1)	p.V143M(1)	large_intestine(1)								c.(427-429)Gtg>Atg		protein phosphatase 1, regulatory subunit 17		G	MET/VAL,MET/VAL	0,4406		0,0,2203	135.0	116.0	123.0		427,274	-11.7	0.1	7		123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C7orf16	NM_006658.4,NM_001145123.2	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	143/156,92/105	31746856	1,13005	2203	4300	6503	SO:0001583	missense	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31746856G>A	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.427G>A	7.37:g.31746856G>A	ENSP00000340125:p.Val143Met					PPP1R17_ENST00000498609.1_3'UTR|PPP1R17_ENST00000409146.3_Missense_Mutation_p.V92M	p.V143M	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			5	1055	+			143					B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	c.427G>A	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	G	7.168	0.586982	0.13749	0.0	1.16E-4	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.30182	1.56;1.54	5.86	-11.7	0.00046	.	1.058450	0.07215	N	0.859836	T	0.08846	0.0219	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.38672	-0.9650	10	0.18710	T	0.47	0.0892	11.6713	0.51403	0.1451:0.3686:0.4863:0.0	.	92;143	B4DE58;O96001	.;PPR17_HUMAN	M	143;92	ENSP00000340125:V143M;ENSP00000386459:V92M	ENSP00000340125:V143M	V	+	1	0	C7orf16	31713381	0.001000	0.12720	0.093000	0.20910	0.720000	0.41350	-1.856000	0.01662	-2.102000	0.00845	-0.355000	0.07637	GTG		0.433	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		6	27	0	0	0	0.217242	0	6	27				
C1orf158	93190	broad.mit.edu	37	1	12820859	12820859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:12820859G>A	ENST00000288048.5	+	4	776	c.560G>A	c.(559-561)cGc>cAc	p.R187H	C1orf158_ENST00000376210.3_Missense_Mutation_p.R149H	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	187								p.R187P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCCCATCGCCTGCATCCT	0.577																																						ENST00000288048.5																			1	Substitution - Missense(1)	p.R187P(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10						c.(559-561)cGc>cAc		chromosome 1 open reading frame 158							89.0	78.0	82.0					1																	12820859		2203	4300	6503	SO:0001583	missense	93190							g.chr1:12820859G>A	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.560G>A	1.37:g.12820859G>A	ENSP00000288048:p.Arg187His					C1orf158_ENST00000376210.3_Missense_Mutation_p.R149H	p.R187H	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	4	776	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	187					Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	c.560G>A	CCDS147.1	.	.	.	.	.	.	.	.	.	.	.	11.18	1.563117	0.27915	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.50001	0.78;0.76	4.55	1.53	0.23141	.	0.476202	0.23712	N	0.045317	T	0.36054	0.0953	L	0.55481	1.735	0.09310	N	1	B	0.20887	0.049	B	0.14578	0.011	T	0.28808	-1.0032	10	0.52906	T	0.07	-6.9156	3.9984	0.09569	0.2048:0.0:0.6083:0.1869	.	187	Q8N1D5	CA158_HUMAN	H	187;149	ENSP00000288048:R187H;ENSP00000365383:R149H	ENSP00000288048:R187H	R	+	2	0	C1orf158	12743446	0.002000	0.14202	0.028000	0.17463	0.003000	0.03518	0.745000	0.26259	0.520000	0.28426	0.563000	0.77884	CGC		0.577	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		7	35	0	0	0	0.278610	0	7	35				
SLC45A3	85414	broad.mit.edu	37	1	205628648	205628648	+	Missense_Mutation	SNP	G	G	A	rs140263007	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:205628648G>A	ENST00000367145.3	-	5	1671	c.1376C>T	c.(1375-1377)gCg>gTg	p.A459V	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	459					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCGCAGAGCGCGGGTGGAGG	0.677			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0	5008	,	,		18387	0.001		0.001	False		,,,				2504	0.0					ENST00000367145.3				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	"""ETV1, ETV5, ELK4, ERG"""		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(1375-1377)gCg>gTg		solute carrier family 45, member 3		G	VAL/ALA	1,4405	4.2+/-10.8	0,1,2202	36.0	36.0	36.0		1376	2.3	0.0	1	dbSNP_134	36	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SLC45A3	NM_033102.2	64	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	459/554	205628648	5,13001	2203	4300	6503	SO:0001583	missense	85414				transmembrane transport	integral to membrane		g.chr1:205628648G>A	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1376C>T	1.37:g.205628648G>A	ENSP00000356113:p.Ala459Val		OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2153	SLC45A3_ENST00000460934.1_5'UTR	p.A459V	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		5	1671	-	Breast(84;0.07)		459					A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	c.1376C>T	CCDS1458.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	3.210	-0.161781	0.06502	2.27E-4	4.65E-4	ENSG00000158715	ENST00000367145	T	0.46451	0.87	5.48	2.33	0.28932	.	0.640864	0.15314	N	0.268905	T	0.31009	0.0783	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18335	-1.0340	10	0.37606	T	0.19	-0.6278	6.2514	0.20848	0.1723:0.1499:0.6778:0.0	.	459	Q96JT2	S45A3_HUMAN	V	459	ENSP00000356113:A459V	ENSP00000356113:A459V	A	-	2	0	SLC45A3	203895271	0.004000	0.15560	0.000000	0.03702	0.082000	0.17680	1.488000	0.35551	0.633000	0.30452	0.491000	0.48974	GCG		0.677	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		7	8	0	0	0	0.248553	0	7	8				
IGHV1-58	28464	broad.mit.edu	37	14	107078546	107078546	+	RNA	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr14:107078546G>A	ENST00000390628.2	-	0	238									immunoglobulin heavy variable 1-58																		CGTTGTCCACGAGCCTGTCGC	0.532																																						ENST00000390628.2																			0																				79.0	87.0	84.0					14																	107078546		2034	4198	6232			0							g.chr14:107078546G>A	M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078546G>A														0	238	-									RNA	SNP	ENST00000390628.2	37																																																																																						0.532	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019		16	49	0	0	0	0.575678	0	16	49				
TMEM252	169693	broad.mit.edu	37	9	71155606	71155606	+	Missense_Mutation	SNP	G	G	A	rs566744205		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:71155606G>A	ENST00000377311.3	-	1	177	c.125C>T	c.(124-126)gCg>gTg	p.A42V	RP11-274B18.2_ENST00000432148.1_lincRNA|RP11-274B18.4_ENST00000413269.3_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	42						integral component of membrane (GO:0016021)											CAAATAGGCCGCAATCAGGCT	0.537													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17831	0.0		0.0	False		,,,				2504	0.0					ENST00000377311.3																			0											c.(124-126)gCg>gTg		transmembrane protein 252							64.0	60.0	62.0					9																	71155606		2203	4300	6503	SO:0001583	missense	169693							g.chr9:71155606G>A	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.125C>T	9.37:g.71155606G>A	ENSP00000366528:p.Ala42Val						p.A42V	NM_153237.1	NP_694969.1					1	177	-									Missense_Mutation	SNP	ENST00000377311.3	37	c.125C>T	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.258616	0.01445	.	.	ENSG00000181778	ENST00000377311	.	.	.	6.02	2.26	0.28386	.	1.673140	0.03164	N	0.169718	T	0.13200	0.0320	N	0.00841	-1.15	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29761	-1.0001	9	0.07175	T	0.84	-0.0067	9.1038	0.36685	0.7868:0.0:0.2132:0.0	.	42	Q8N6L7	CI071_HUMAN	V	42	.	ENSP00000366528:A42V	A	-	2	0	C9orf71	70345426	0.018000	0.18449	0.044000	0.18714	0.003000	0.03518	2.452000	0.44961	0.177000	0.19895	-1.105000	0.02106	GCG		0.537	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		9	20	0	0	0	0.335167	0	9	20				
MUC16	94025	broad.mit.edu	37	19	9090675	9090675	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr19:9090675G>T	ENST00000397910.4	-	1	1343	c.1140C>A	c.(1138-1140)caC>caA	p.H380Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	380	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTGGCTATGTGGGTGCTGG	0.507																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1138-1140)caC>caA		mucin 16, cell surface associated							89.0	83.0	85.0					19																	9090675		2027	4186	6213	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090675G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1140C>A	19.37:g.9090675G>T	ENSP00000381008:p.His380Gln						p.H380Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1343	-			380			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1140C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.703	-0.500985	0.04261	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	1.38	0.184	0.15086	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	.	.	.	P	0.46020	0.871	B	0.31812	0.136	T	0.48525	-0.9028	8	0.87932	D	0	.	4.5555	0.12135	0.0:0.0:0.6235:0.3765	.	380	B5ME49	.	Q	380	ENSP00000381008:H380Q	ENSP00000381008:H380Q	H	-	3	2	MUC16	8951675	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.352000	0.07701	0.109000	0.17891	0.313000	0.20887	CAC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	42	1	0	2.27111e-07	0.411799	2.50839e-07	13	42				
NRG1	3084	broad.mit.edu	37	8	32621577	32621577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:32621577C>T	ENST00000405005.3	+	12	1580	c.1580C>T	c.(1579-1581)aCg>aTg	p.T527M	NRG1_ENST00000338921.4_Missense_Mutation_p.T535M|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.T524M|NRG1_ENST00000287845.5_Missense_Mutation_p.T498M|NRG1_ENST00000356819.4_Missense_Mutation_p.T532M|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000539990.1_Missense_Mutation_p.T370M|NRG1_ENST00000519301.1_Missense_Mutation_p.T477M			Q02297	NRG1_HUMAN	neuregulin 1	527					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAGTATGAAACGACCCAAGAG	0.552																																						ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1603-1605)aCg>aTg		neuregulin 1							66.0	59.0	62.0					8																	32621577		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621577C>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1580C>T	8.37:g.32621577C>T	ENSP00000384620:p.Thr527Met					NRG1_ENST00000356819.4_Missense_Mutation_p.T532M|NRG1_ENST00000287840.5_Missense_Mutation_p.T527M|NRG1_ENST00000539990.1_Missense_Mutation_p.T370M|NRG1_ENST00000405005.2_Missense_Mutation_p.T527M|NRG1_ENST00000287842.3_Missense_Mutation_p.T524M|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.T477M|NRG1_ENST00000287845.5_Missense_Mutation_p.T498M	p.T535M			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	13	2121	+		Breast(100;0.203)	527	Q -> R (in Ref. 2; AAA19951).				A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1604C>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943070	0.53079	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.75	5.75	0.90469	Neuregulin 1-related, C-terminal (1);	0.199996	0.44688	D	0.000439	T	0.75867	0.3908	M	0.67397	2.05	0.49213	D	0.999763	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;P;D;D;D	0.97110	0.999;0.991;0.995;0.817;0.991;1.0;0.991	T	0.73509	-0.3960	9	.	.	.	-4.4372	19.9364	0.97143	0.0:1.0:0.0:0.0	.	370;498;532;535;524;527;532	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	M	477;600;535;532;527;498;524;527;370	ENSP00000429582:T477M;ENSP00000429067:T600M;ENSP00000343395:T535M;ENSP00000349275:T532M;ENSP00000287840:T527M;ENSP00000287845:T498M;ENSP00000287842:T524M;ENSP00000384620:T527M;ENSP00000439276:T370M	.	T	+	2	0	NRG1	32741119	1.000000	0.71417	0.964000	0.40570	0.909000	0.53808	5.625000	0.67770	2.724000	0.93272	0.455000	0.32223	ACG		0.552	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			9	19	0	0	0	0.307466	0	9	19				
OR4C6	219432	broad.mit.edu	37	11	55433000	55433000	+	Missense_Mutation	SNP	C	C	T	rs146965889	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr11:55433000C>T	ENST00000314259.3	+	1	387	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGCCTATGACCGCTACGTGGC	0.552																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(358-360)Cgc>Tgc		olfactory receptor, family 4, subfamily C, member 6		C	CYS/ARG	2,4398	4.2+/-10.8	0,2,2198	110.0	100.0	104.0		358	2.8	1.0	11	dbSNP_134	104	2,8590	2.2+/-6.3	0,2,4294	no	missense	OR4C6	NM_001004704.1	180	0,4,6492	TT,TC,CC		0.0233,0.0455,0.0308	benign	120/310	55433000	4,12988	2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433000C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.358C>T	11.37:g.55433000C>T	ENSP00000324769:p.Arg120Cys						p.R120C	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	387	+			120					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.358C>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154021	0.38021	4.55E-4	2.33E-4	ENSG00000181903	ENST00000314259	T	0.77358	-1.09	3.77	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.399974	0.18426	N	0.141590	T	0.77068	0.4076	M	0.82193	2.58	0.38941	D	0.958144	B	0.29301	0.241	B	0.26094	0.066	T	0.76495	-0.2938	10	0.72032	D	0.01	.	10.1243	0.42641	0.0:0.8965:0.0:0.1035	.	120	Q8NH72	OR4C6_HUMAN	C	120	ENSP00000324769:R120C	ENSP00000324769:R120C	R	+	1	0	OR4C6	55189576	0.955000	0.32602	1.000000	0.80357	0.854000	0.48673	1.405000	0.34635	0.599000	0.29845	0.536000	0.68110	CGC		0.552	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		15	58	0	0	0	0.457914	0	15	58				
PDGFRA	5156	broad.mit.edu	37	4	55139758	55139758	+	Silent	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:55139758C>T	ENST00000257290.5	+	10	1750	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	473	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CAAACATCATCACGGAGATCC	0.498			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1417-1419)atC>atT		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						90.0	88.0	89.0					4																	55139758		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55139758C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1419C>T	4.37:g.55139758C>T		TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.I473I	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		10	1750	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		473			Ig-like C2-type 5.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.1419C>T	CCDS3495.1																																																																																				0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		26	30	0	0	0	0.706142	0	26	30				
PLXNA4	91584	broad.mit.edu	37	7	131859587	131859587	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:131859587G>A	ENST00000359827.3	-	21	4929	c.3967C>T	c.(3967-3969)Cgg>Tgg	p.R1323W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1323W			Q9HCM2	PLXA4_HUMAN	plexin A4	1323					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R1323W(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACAGCACCCGCATGGTGTAA	0.582																																						ENST00000359827.3																			3	Substitution - Missense(3)	p.R1323W(3)	lung(2)|breast(1)	NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3967-3969)Cgg>Tgg		plexin A4							116.0	124.0	121.0					7																	131859587		2148	4280	6428	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131859587G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3967C>T	7.37:g.131859587G>A	ENSP00000352882:p.Arg1323Trp					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1323W	p.R1323W			Q9HCM2	PLXA4_HUMAN			21	4929	-			1323					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3967C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518462	0.64634	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.15718	2.4;2.4	5.59	2.73	0.32206	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62158	-0.6913	10	0.87932	D	0	.	15.2126	0.73238	0.0:0.0:0.343:0.657	.	1323	Q9HCM2	PLXA4_HUMAN	W	1323	ENSP00000323194:R1323W;ENSP00000352882:R1323W	ENSP00000323194:R1323W	R	-	1	2	PLXNA4	131510127	0.996000	0.38824	1.000000	0.80357	0.826000	0.46750	0.322000	0.19576	0.288000	0.22398	-0.122000	0.15005	CGG		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		34	116	0	0	0	0.779181	0	34	116				
HDX	139324	broad.mit.edu	37	X	83724443	83724443	+	Silent	SNP	A	A	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:83724443A>C	ENST00000297977.5	-	3	399	c.288T>G	c.(286-288)tcT>tcG	p.S96S	HDX_ENST00000373177.2_Silent_p.S96S|HDX_ENST00000506585.2_Silent_p.S38S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	96						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGTCCAAGAAGACTGCTGGC	0.428																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(286-288)tcT>tcG		highly divergent homeobox							154.0	130.0	139.0					X																	83724443		2203	4300	6503	SO:0001819	synonymous_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724443A>C	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.288T>G	X.37:g.83724443A>C						HDX_ENST00000373177.2_Silent_p.S96S|HDX_ENST00000506585.2_Silent_p.S38S	p.S96S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	399	-			96					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	c.288T>G	CCDS35342.1																																																																																				0.428	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		38	84	0	0	0	0.812448	0	38	84				
BAGE2	85319	broad.mit.edu	37	21	11038841	11038841	+	RNA	SNP	G	G	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr21:11038841G>C	ENST00000470054.1	-	0	1362							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTTCCAGCAGAGGAACTAAG	0.453																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038841G>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038841G>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1362	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.453	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		32	195	0	0	0	0.760397	0	32	195				
MORN3	283385	broad.mit.edu	37	12	122091088	122091088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:122091088C>T	ENST00000355329.3	-	4	711	c.541G>A	c.(541-543)Ggc>Agc	p.G181S		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	181						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		AACAGCTGGCCGTGGTCCAGA	0.607																																						ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(541-543)Ggc>Agc		MORN repeat containing 3							69.0	59.0	62.0					12																	122091088		2203	4300	6503	SO:0001583	missense	283385							g.chr12:122091088C>T	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.541G>A	12.37:g.122091088C>T	ENSP00000347486:p.Gly181Ser						p.G181S	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	4	711	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		181					Q86YQ9	Missense_Mutation	SNP	ENST00000355329.3	37	c.541G>A	CCDS31917.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887467	0.91814	.	.	ENSG00000139714	ENST00000355329	T	0.39056	1.1	5.06	5.06	0.68205	.	0.112157	0.64402	D	0.000011	T	0.71239	0.3316	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77289	-0.2643	10	0.66056	D	0.02	.	18.3926	0.90489	0.0:1.0:0.0:0.0	.	181	Q6PF18	MORN3_HUMAN	S	181	ENSP00000347486:G181S	ENSP00000347486:G181S	G	-	1	0	MORN3	120575471	1.000000	0.71417	0.297000	0.24988	0.718000	0.41266	6.886000	0.75611	2.528000	0.85240	0.561000	0.74099	GGC		0.607	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		8	33	0	0	0	0.307466	0	8	33				
OR5H14	403273	broad.mit.edu	37	3	97868995	97868995	+	Missense_Mutation	SNP	G	G	A	rs148799830	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:97868995G>A	ENST00000437310.1	+	1	826	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGGCCCCTCGCCTTCATGTA	0.413													G|||	2	0.000399361	0.0	0.0	5008	,	,		17365	0.0		0.0	False		,,,				2504	0.002					ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(766-768)Gcc>Acc		olfactory receptor, family 5, subfamily H, member 14		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	55.0	50.0	52.0		766	-2.3	0.0	3	dbSNP_134	52	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR5H14	NM_001005514.1	58	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	benign	256/311	97868995	2,13000	2203	4298	6501	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868995G>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.766G>A	3.37:g.97868995G>A	ENSP00000401706:p.Ala256Thr						p.A256T	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	826	+			256					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.766G>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	G	3.325	-0.137822	0.06711	2.27E-4	1.16E-4	ENSG00000236032	ENST00000437310	T	0.37058	1.22	2.49	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.550026	0.15214	N	0.274324	T	0.12944	0.0314	N	0.05158	-0.105	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.10989	-1.0606	10	0.52906	T	0.07	.	1.1048	0.01691	0.1767:0.4022:0.183:0.2381	.	256	A6NHG9	O5H14_HUMAN	T	256	ENSP00000401706:A256T	ENSP00000401706:A256T	A	+	1	0	OR5H14	99351685	0.000000	0.05858	0.010000	0.14722	0.042000	0.13812	-1.146000	0.03191	-0.488000	0.06726	0.195000	0.17529	GCC		0.413	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			18	39	0	0	0	0.520397	0	18	39				
BAGE2	85319	broad.mit.edu	37	21	11097573	11097573	+	RNA	SNP	C	C	T	rs534797997	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr21:11097573C>T	ENST00000470054.1	-	0	296							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aggctccaacctccagctcac	0.542													N|||	4	0.000798722	0.0	0.0043	5008	,	,		47721	0.0		0.001	False		,,,				2504	0.0					ENST00000470054.1																			0													B melanoma antigen family, member 2							57.0	74.0	68.0					21																	11097573		1412	2555	3967			85319							g.chr21:11097573C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097573C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	296	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.542	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	42	0	0	0	0.217242	0	5	42				
NCOR1	9611	broad.mit.edu	37	17	16029417	16029417	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr17:16029417T>C	ENST00000268712.3	-	15	1870	c.1613A>G	c.(1612-1614)aAa>aGa	p.K538R	NCOR1_ENST00000395851.1_Missense_Mutation_p.K538R|NCOR1_ENST00000395848.1_Missense_Mutation_p.K429R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	538					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		tttttcatctttttcctcttc	0.264																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(1612-1614)aAa>aGa		nuclear receptor corepressor 1							16.0	15.0	15.0					17																	16029417		2158	4204	6362	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16029417T>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1613A>G	17.37:g.16029417T>C	ENSP00000268712:p.Lys538Arg					NCOR1_ENST00000395851.1_Missense_Mutation_p.K538R|NCOR1_ENST00000395848.1_Missense_Mutation_p.K429R	p.K538R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	15	1870	-			538					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.1613A>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	t	15.25	2.778800	0.49891	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848;ENST00000411510	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	4.88	4.88	0.63580	.	0.390682	0.30602	N	0.009273	T	0.49423	0.1556	L	0.48642	1.525	0.80722	D	1	P;B;B;D	0.56035	0.88;0.049;0.004;0.974	P;B;B;D	0.67725	0.899;0.016;0.001;0.953	T	0.40924	-0.9537	10	0.36615	T	0.2	-14.3606	12.2021	0.54333	0.0:0.0:0.0:1.0	.	539;429;538;538	E7EW50;E9PGV6;O75376;O75376-2	.;.;NCOR1_HUMAN;.	R	538;538;429;429;539	ENSP00000268712:K538R;ENSP00000379192:K538R;ENSP00000379189:K429R;ENSP00000407998:K539R	ENSP00000268712:K538R	K	-	2	0	NCOR1	15970142	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.456000	0.60081	1.958000	0.56883	0.451000	0.29950	AAA		0.264	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		2	7	0	0	0	0.115264	0	2	7				
COL1A2	1278	broad.mit.edu	37	7	94038721	94038721	+	Missense_Mutation	SNP	G	G	A	rs145693444	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:94038721G>A	ENST00000297268.6	+	17	1351	c.880G>A	c.(880-882)Gtt>Att	p.V294I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	294					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCCGGCCCCGTTGGACCTCC	0.502										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(880-882)Gtt>Att		collagen, type I, alpha 2	Collagenase(DB00048)						66.0	74.0	71.0					7																	94038721		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038721G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.880G>A	7.37:g.94038721G>A	ENSP00000297268:p.Val294Ile	HNSCC(75;0.22)					p.V294I	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		17	1351	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		294					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.880G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029508	0.75504	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.92299	-3.01	5.73	5.73	0.89815	.	0.134929	0.49305	D	0.000159	D	0.84401	0.5464	N	0.03903	-0.33	0.53688	D	0.999976	P	0.37955	0.612	B	0.37550	0.253	D	0.85834	0.1393	10	0.54805	T	0.06	.	20.2886	0.98538	0.0:0.0:1.0:0.0	.	294	P08123	CO1A2_HUMAN	I	294;295	ENSP00000297268:V294I	ENSP00000297268:V294I	V	+	1	0	COL1A2	93876657	1.000000	0.71417	0.933000	0.37362	0.893000	0.52053	4.783000	0.62403	2.882000	0.98803	0.655000	0.94253	GTT		0.502	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		28	76	0	0	0	0.769981	0	28	76				
TRPV6	55503	broad.mit.edu	37	7	142573227	142573227	+	Silent	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:142573227T>C	ENST00000359396.3	-	8	1361	c.1116A>G	c.(1114-1116)ctA>ctG	p.L372L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	372					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCACCTGAAGTAGCTTCTGCT	0.572																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1114-1116)ctA>ctG		transient receptor potential cation channel, subfamily V, member 6							76.0	71.0	73.0					7																	142573227		2203	4300	6503	SO:0001819	synonymous_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573227T>C	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1116A>G	7.37:g.142573227T>C							p.L372L	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			8	1361	-	Melanoma(164;0.059)		372					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	c.1116A>G	CCDS5874.1																																																																																				0.572	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		15	53	0	0	0	0.479597	0	15	53				
LMX1B	4010	broad.mit.edu	37	9	129453250	129453250	+	Silent	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:129453250C>T	ENST00000373474.4	+	3	469	c.462C>T	c.(460-462)gaC>gaT	p.D154D	LMX1B_ENST00000355497.5_Silent_p.D154D|LMX1B_ENST00000425646.2_Silent_p.D131D|LMX1B_ENST00000526117.1_Silent_p.D154D|LMX1B_ENST00000561065.1_Silent_p.D131D			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	154	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCAAGGGCGACGAATTCGTGC	0.637									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(460-462)gaC>gaT		LIM homeobox transcription factor 1, beta							85.0	64.0	71.0					9																	129453250		2203	4300	6503	SO:0001819	synonymous_variant	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129453250C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.462C>T	9.37:g.129453250C>T						LMX1B_ENST00000425646.2_Silent_p.D131D|LMX1B_ENST00000373474.4_Silent_p.D154D|LMX1B_ENST00000526117.1_Silent_p.D154D|LMX1B_ENST00000561065.1_Silent_p.D131D	p.D154D	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			3	469	+			131					F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.462C>T	CCDS55342.1																																																																																				0.637	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			4	23	0	0	0	0.150653	0	4	23				
MTCP1	4515	broad.mit.edu	37	X	154293907	154293907	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:154293907T>C	ENST00000369476.3	-	3	842	c.263A>G	c.(262-264)cAg>cGg	p.Q88R	CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000482244.1_5'UTR|MTCP1_ENST00000362018.2_Missense_Mutation_p.Q88R|CMC4_ENST00000369479.1_5'Flank	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	88					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAAATGATGCTGTATCTGCCA	0.453			T	TRA@	T cell prolymphocytic leukemia																																	ENST00000369476.3				Dom	yes		X	Xq28	4515	T	mature T-cell proliferation 1			L	TRA@		T cell prolymphocytic leukemia		0				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(262-264)cAg>cGg		mature T-cell proliferation 1							116.0	111.0	112.0					X																	154293907		2038	4176	6214	SO:0001583	missense	4515				cell proliferation			g.chrX:154293907T>C		CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.263A>G	X.37:g.154293907T>C	ENSP00000358488:p.Gln88Arg					MTCP1_ENST00000482244.1_5'UTR|MTCP1_ENST00000362018.2_Missense_Mutation_p.Q88R|CMC4_ENST00000369484.3_Intron	p.Q88R	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN			3	842	-	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		88					Q5HYP2	Missense_Mutation	SNP	ENST00000369476.3	37	c.263A>G	CCDS44027.1	.	.	.	.	.	.	.	.	.	.	T	9.055	0.992954	0.19043	.	.	ENSG00000214827	ENST00000369476;ENST00000362018	T;T	0.30182	1.54;1.54	5.42	5.42	0.78866	.	0.192781	0.35970	N	0.002867	T	0.12347	0.0300	N	0.02011	-0.69	0.33947	D	0.643985	B	0.12013	0.005	B	0.12837	0.008	T	0.20273	-1.0280	10	0.17832	T	0.49	-11.1992	12.0273	0.53377	0.0:0.0:0.0:1.0	.	88	P56278	MTCP1_HUMAN	R	88	ENSP00000358488:Q88R;ENSP00000355058:Q88R	ENSP00000355058:Q88R	Q	-	2	0	MTCP1	153947101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.859000	0.62954	1.929000	0.55896	0.486000	0.48141	CAG		0.453	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058776.1	NM_001018025		30	74	0	0	0	0.760397	0	30	74				
TMEM132B	114795	broad.mit.edu	37	12	126139203	126139203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:126139203G>A	ENST00000299308.3	+	9	3192	c.3184G>A	c.(3184-3186)Ggg>Agg	p.G1062R	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G574R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1062						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TATGGGGCTGGGGGATTCACA	0.463																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(3184-3186)Ggg>Agg		transmembrane protein 132B							80.0	72.0	74.0					12																	126139203		1867	4101	5968	SO:0001583	missense	114795					integral to membrane		g.chr12:126139203G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.3184G>A	12.37:g.126139203G>A	ENSP00000299308:p.Gly1062Arg					TMEM132B_ENST00000535886.1_Missense_Mutation_p.G574R	p.G1062R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	3192	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1062					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.3184G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508732	0.85282	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.10192	3.69;2.9	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000002	T	0.29716	0.0742	L	0.46670	1.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00119	-1.2031	10	0.46703	T	0.11	.	20.0838	0.97793	0.0:0.0:1.0:0.0	.	1062	Q14DG7	T132B_HUMAN	R	1062;574	ENSP00000299308:G1062R;ENSP00000440436:G574R	ENSP00000299308:G1062R	G	+	1	0	TMEM132B	124705156	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.595000	0.82710	2.741000	0.93983	0.655000	0.94253	GGG		0.463	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		16	54	0	0	0	0.500413	0	16	54				
STT3B	201595	broad.mit.edu	37	3	31641930	31641931	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:31641930_31641931insA	ENST00000295770.2	+	5	1065_1066	c.856_857insA	c.(856-858)tacfs	p.Y286fs	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	286					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						GATGCAGAGATACAGCAAAAGA	0.322																																						ENST00000295770.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(856-858)cagfs		STT3B, subunit of the oligosaccharyltransferase complex (catalytic)																																				SO:0001589	frameshift_variant	201595				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:31641930_31641931insA	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.857dupA	3.37:g.31641931_31641931dupA	ENSP00000295770:p.Tyr286fs					STT3B_ENST00000453168.1_3'UTR	p.Q286fs	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN			5	1065_1066	+			286					Q96JZ4|Q96KY7	Frame_Shift_Ins	INS	ENST00000295770.2	37	c.856_857insA	CCDS2650.1																																																																																				0.322	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		9	28						9	28	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168833251	168833251	+	Frame_Shift_Del	DEL	G	G	-	rs141957464	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:168833251delG	ENST00000464456.1	-	7	3045	c.1845delC	c.(1843-1845)agcfs	p.S615fs	MECOM_ENST00000494292.1_Frame_Shift_Del_p.S803fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.S680fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.S616fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.S615fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.S616fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.S615fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.S615fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	24					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATTCGACGTTGCTTCCTTTTT	0.488																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1843-1845)agfs		MDS1 and EVI1 complex locus							121.0	110.0	114.0					3																	168833251		2203	4300	6503	SO:0001589	frameshift_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168833251delG	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1845delC	3.37:g.168833251delG	ENSP00000419770:p.Ser615fs					MECOM_ENST00000433243.2_Frame_Shift_Del_p.S616fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.S803fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.S615fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.S615fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.S680fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.S616fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.S615fs	p.S615fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	3045	-			24					Q13466|Q6FH90	Frame_Shift_Del	DEL	ENST00000464456.1	37	c.1845delC	CCDS54669.1																																																																																				0.488	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		15	35						15	35	---	---	---	---
RPL7	6129	broad.mit.edu	37	8	74205020	74205022	+	In_Frame_Del	DEL	CTT	CTT	-	rs556746526	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:74205020_74205022delCTT	ENST00000352983.2	-	2	310_312	c.25_27delAAG	c.(25-27)aagdel	p.K9del	RPL7_ENST00000396465.1_5'UTR|RPL7_ENST00000396466.1_5'UTR|RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396467.1_5'UTR			P18124	RL7_HUMAN	ribosomal protein L7	9	4 X 12 AA tandem repeats.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CAGGAACCTCCTTCTTCTTCTCT	0.414														4	0.000798722	0.0	0.0	5008	,	,		22796	0.0		0.002	False		,,,				2504	0.002					ENST00000352983.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(25-27)del		ribosomal protein L7				1,4257		0,1,2128						-2.6	0.9			58	20,8230		0,20,4105	no	coding	RPL7	NM_000971.3		0,21,6233	A1A1,A1R,RR		0.2424,0.0235,0.1679				21,12487				SO:0001651	inframe_deletion	6129				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	g.chr8:74205020_74205022delCTT	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.25_27delAAG	8.37:g.74205026_74205028delCTT	ENSP00000339795:p.Lys9del					RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000396465.1_5'UTR|RPL7_ENST00000396466.1_5'UTR	p.K9del			P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		2	310_312	-	Breast(64;0.0954)		9			4 X 12 AA tandem repeats.		A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	In_Frame_Del	DEL	ENST00000352983.2	37	c.25_27delAAG	CCDS6212.1																																																																																				0.414	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971		11	56						11	56	---	---	---	---
JRK	8629	broad.mit.edu	37	8	143746154	143746154	+	RNA	DEL	C	C	-			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:143746154delC	ENST00000507178.2	-	0	1656							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cttcccgctaccccccagctg	0.637																																						ENST00000507178.2																			0													jerky homolog (mouse)							10.0	11.0	11.0					8																	143746154		1943	4097	6040			8629							g.chr8:143746154delC	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746154delC														0	1656	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)						O75565	RNA	DEL	ENST00000507178.2	37																																																																																						0.637	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		5	6						5	6	---	---	---	---
PNPLA7	375775	broad.mit.edu	37	9	140356449	140356450	+	Frame_Shift_Ins	INS	-	-	C	rs71493670|rs377090446	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:140356449_140356450insC	ENST00000277531.4	-	31	3800_3801	c.3614_3615insG	c.(3613-3615)ggcfs	p.G1205fs	NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000265663.7_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000406427.1_Frame_Shift_Ins_p.G1230fs|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000392812.4_5'Flank|PNPLA7_ENST00000371457.1_Frame_Shift_Ins_p.G811fs|NSMF_ENST00000371473.3_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1205					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGCCGCTGCGGCCCCAGATGTC	0.698													CCCC|CCCC|CCCCC|insertion	10	0.00199681	0.0008	0.0	5008	,	,		14428	0.0		0.0089	False		,,,				2504	0.0					ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3688-3690)gcgfs		patatin-like phospholipase domain containing 7			,	11,4231		0,11,2110					,	-6.2	0.0		dbSNP_130	13	82,8142		2,78,4032	no	frameshift,frameshift	PNPLA7	NM_152286.3,NM_001098537.1	,	2,89,6142	A1A1,A1R,RR		0.9971,0.2593,0.746	,	,		93,12373				SO:0001589	frameshift_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140356449_140356450insC	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3615dupG	9.37:g.140356453_140356453dupC	ENSP00000277531:p.Gly1205fs					PNPLA7_ENST00000277531.4_Frame_Shift_Ins_p.A1205fs|PNPLA7_ENST00000371457.1_Frame_Shift_Ins_p.A811fs|PNPLA7_ENST00000492278.1_5'UTR	p.A1230fs	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	32	4025_4026	-	all_cancers(76;0.126)		1205					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Frame_Shift_Ins	INS	ENST00000277531.4	37	c.3689_3690insG	CCDS7045.1																																																																																				0.698	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		4	6						4	6	---	---	---	---
SPX	80763	broad.mit.edu	37	12	21684077	21684077	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:21684077delA	ENST00000256969.2	+	6	465	c.299delA	c.(298-300)gaafs	p.E100fs	C12orf39_ENST00000543800.1_3'UTR	NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		100					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACAGATGAAGAAAAAAACTTT	0.284																																						ENST00000256969.2																			0				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(298-300)gafs		chromosome 12 open reading frame 39							50.0	51.0	50.0					12																	21684077		2200	4294	6494	SO:0001589	frameshift_variant	80763					extracellular region|nucleus|transport vesicle		g.chr12:21684077delA																												ENST00000256969.2:c.299delA	12.37:g.21684077delA	ENSP00000256969:p.Glu100fs					C12orf39_ENST00000543800.1_3'UTR	p.E100fs	NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN			6	465	+			100					B3KND6	Frame_Shift_Del	DEL	ENST00000256969.2	37	c.299delA	CCDS31757.1																																																																																				0.284	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1			7	14						7	14	---	---	---	---
MLXIP	22877	broad.mit.edu	37	12	122618566	122618567	+	Frame_Shift_Ins	INS	-	-	C	rs372758562	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:122618566_122618567insC	ENST00000377037.2	+	2	534_535	c.534_535insC	c.(535-537)cccfs	p.P179fs	MLXIP_ENST00000538698.1_Intron|MLXIP_ENST00000319080.7_Intron					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AGTGCGGGGCTCCCCCCGACCC	0.584													?|CCCCCC|CCCCCCC|unsure	36	0.0071885	0.0	0.0043	5008	,	,		14705	0.002		0.005	False		,,,				2504	0.0266				Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000377037.2																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(532-537)gcccccfs		MLX interacting protein				8,3554		1,6,1774						-5.8	0.0			8	76,7552		5,66,3743	no	intron	MLXIP	NM_014938.3		6,72,5517	A1A1,A1R,RR		0.9963,0.2246,0.7507				84,11106				SO:0001589	frameshift_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122618566_122618567insC	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000377037.2:c.540dupC	12.37:g.122618572_122618572dupC	ENSP00000366236:p.Pro179fs					MLXIP_ENST00000319080.6_Intron|MLXIP_ENST00000538698.1_Intron	p.AP178fs			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	2	534_535	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	57			Required for cytoplasmic localization.			Frame_Shift_Ins	INS	ENST00000377037.2	37	c.534_535insC																																																																																					0.584	MLXIP-201	KNOWN	basic	protein_coding	protein_coding		NM_014938		7	4						7	4	---	---	---	---
RP5-991G20.1	0	broad.mit.edu	37	16	72763868	72763869	+	RNA	INS	-	-	A	rs201460117	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr16:72763868_72763869insA	ENST00000563328.2	+	0	164																											CGGTCCAAAACAAAAAAAAAAA	0.436																																						ENST00000563328.2																			0																																																			0							g.chr16:72763868_72763869insA																													16.37:g.72763879_72763879dupA														0	164	+									RNA	INS	ENST00000563328.2	37																																																																																						0.436	RP5-991G20.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000421937.2			5	4						5	4	---	---	---	---
