#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
EXOSC10	5394	broad.mit.edu	37	1	11151619	11151619	+	Missense_Mutation	SNP	C	C	G	rs146190133		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:11151619C>G	ENST00000376936.4	-	4	457	c.408G>C	c.(406-408)aaG>aaC	p.K136N	EXOSC10_ENST00000544779.1_Missense_Mutation_p.K136N|EXOSC10_ENST00000304457.7_Missense_Mutation_p.K136N	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	136					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCTGTTGATTCTTGTTTACAC	0.458																																					Colon(179;105 1987 14326 27364 29542)	uc001asa.2																			0				upper_aerodigestive_tract(1)	1						c.(406-408)AAG>AAC		exosome component 10 isoform 1							80.0	80.0	80.0					1																	11151619		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11151619C>G	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.408G>C	1.37:g.11151619C>G	ENSP00000366135:p.Lys136Asn					EXOSC10_uc001asb.2_Missense_Mutation_p.K136N|EXOSC10_uc009vmy.1_Missense_Mutation_p.K136N	p.K136N	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	4	458	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	136					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.408G>C	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137852	0.56936	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	6.03	6.03	0.97812	.	0.043207	0.85682	D	0.000000	T	0.69646	0.3134	M	0.64997	1.995	0.51012	D	0.9999	P;D	0.67145	0.866;0.996	P;P	0.61477	0.644;0.889	T	0.70494	-0.4856	9	0.59425	D	0.04	-37.0297	12.717	0.57121	0.0:0.9181:0.0:0.0819	.	136;136	Q01780-2;Q01780	.;EXOSX_HUMAN	N	136	.	ENSP00000307307:K136N	K	-	3	2	EXOSC10	11074206	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.454000	0.44979	2.868000	0.98415	0.555000	0.69702	AAG		0.458	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998	
UBIAD1	29914	broad.mit.edu	37	1	11334002	11334002	+	Silent	SNP	C	C	G			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:11334002C>G	ENST00000376810.5	+	1	740	c.414C>G	c.(412-414)ctC>ctG	p.L138L	UBIAD1_ENST00000376804.2_Silent_p.L138L	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	138					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GAGTCTTCCTCTACACGTTGG	0.537																																						uc001asg.2																			0					0						c.(412-414)CTC>CTG		UbiA prenyltransferase domain containing 1							83.0	77.0	79.0					1																	11334002		2203	4300	6503	SO:0001819	synonymous_variant	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11334002C>G		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.414C>G	1.37:g.11334002C>G							p.L138L	NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	1	748	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	138			Helical; (Potential).		B3KQG3|Q53GX3|Q5THD4	Silent	SNP	ENST00000376810.5	37	c.414C>G	CCDS129.1																																																																																				0.537	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319	
TRIM62	55223	broad.mit.edu	37	1	33646782	33646782	+	Silent	SNP	G	G	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:33646782G>C	ENST00000291416.5	-	1	485	c.252C>G	c.(250-252)ctC>ctG	p.L84L	TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	84					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCGCGCGTTGAGGATGGCGT	0.701																																						uc001bxb.2																			0					0						c.(250-252)CTC>CTG		tripartite motif-containing 62							22.0	17.0	19.0					1																	33646782		2188	4286	6474	SO:0001819	synonymous_variant	55223					intracellular	zinc ion binding	g.chr1:33646782G>C	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.252C>G	1.37:g.33646782G>C							p.L84L	NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN			1	890	-		Myeloproliferative disorder(586;0.0393)	84					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.252C>G	CCDS376.1																																																																																				0.701	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207	
TCHH	7062	broad.mit.edu	37	1	152080828	152080828	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:152080828C>T	ENST00000368804.1	-	2	4864	c.4865G>A	c.(4864-4866)cGc>cAc	p.R1622H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1622	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCGTCTTCGCGGAATTTTCT	0.602																																						uc001ezp.2																			0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4864-4866)CGC>CAC		trichohyalin							70.0	70.0	70.0					1																	152080828		1922	4138	6060	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080828C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4865G>A	1.37:g.152080828C>T	ENSP00000357794:p.Arg1622His					TCHH_uc009wne.1_Missense_Mutation_p.R1622H	p.R1622H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4865	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1622			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4865G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384588	0.25031	.	.	ENSG00000159450	ENST00000368804	T	0.07908	3.15	4.27	0.261	0.15592	.	.	.	.	.	T	0.02193	0.0068	L	0.47716	1.5	0.09310	N	1	B	0.20164	0.042	B	0.14578	0.011	T	0.43861	-0.9365	9	0.41790	T	0.15	.	4.7595	0.13100	0.1499:0.5883:0.0:0.2617	.	1622	Q07283	TRHY_HUMAN	H	1622	ENSP00000357794:R1622H	ENSP00000357794:R1622H	R	-	2	0	TCHH	150347452	0.000000	0.05858	0.005000	0.12908	0.189000	0.23516	-0.417000	0.07088	-0.109000	0.12044	-0.363000	0.07495	CGC		0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
OR10J3	441911	broad.mit.edu	37	1	159283794	159283794	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:159283794T>A	ENST00000332217.5	-	1	655	c.656A>T	c.(655-657)tAt>tTt	p.Y219F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					GATGAGGACATAGGAGATAAA	0.502																																						uc010piu.1																			0				ovary(2)	2						c.(655-657)TAT>TTT		olfactory receptor, family 10, subfamily J,							166.0	148.0	154.0					1																	159283794		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283794T>A		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.656A>T	1.37:g.159283794T>A	ENSP00000331789:p.Tyr219Phe						p.Y219F	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	656	-	all_hematologic(112;0.0429)		219			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000332217.5	37	c.656A>T	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.503900	0.64410	.	.	ENSG00000196266	ENST00000332217	T	0.00495	6.99	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30302	U	0.009939	T	0.01765	0.0056	H	0.97540	4.025	0.26391	N	0.976577	D	0.89917	1.0	D	0.97110	1.0	T	0.31806	-0.9930	10	0.87932	D	0	.	13.3056	0.60351	0.0:0.0:0.0:1.0	.	219	Q5JRS4	O10J3_HUMAN	F	219	ENSP00000331789:Y219F	ENSP00000331789:Y219F	Y	-	2	0	OR10J3	157550418	0.999000	0.42202	0.998000	0.56505	0.885000	0.51271	3.259000	0.51515	2.232000	0.73038	0.533000	0.62120	TAT		0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1		
SLAMF6	114836	broad.mit.edu	37	1	160456502	160456502	+	Missense_Mutation	SNP	C	C	T	rs151001421		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:160456502C>T	ENST00000368057.3	-	8	1054	c.994G>A	c.(994-996)Gtg>Atg	p.V332M	SLAMF6_ENST00000368055.1_Missense_Mutation_p.V221M|SLAMF6_ENST00000368059.3_Missense_Mutation_p.V331M			Q96DU3	SLAF6_HUMAN	SLAM family member 6	332						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GCAACTTACACGACATTGTCA	0.483																																						uc001fwe.1																			0				ovary(1)|skin(1)	2						c.(994-996)GTG>ATG		activating NK receptor precursor		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	86.0	78.0	81.0		994,844,661,991	-2.7	0.0	1	dbSNP_134	81	0,8600		0,0,4300	no	missense,missense,missense,missense	SLAMF6	NM_001184714.1,NM_001184715.1,NM_001184716.1,NM_052931.4	21,21,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	332/333,282/283,221/222,331/332	160456502	1,13005	2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160456502C>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.994G>A	1.37:g.160456502C>T	ENSP00000357036:p.Val332Met					SLAMF6_uc001fwd.1_Missense_Mutation_p.V331M|SLAMF6_uc010pjh.1_Missense_Mutation_p.V282M|SLAMF6_uc010pji.1_Missense_Mutation_p.V221M	p.V332M	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		8	1054	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		332					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.994G>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	4.772	0.143560	0.09134	2.27E-4	0.0	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.22336	2.65;2.65;1.96	4.18	-2.66	0.06077	.	3.839660	0.00859	N	0.001901	T	0.03434	0.0099	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.24675	0.066;0.109;0.066;0.066	B;B;B;B	0.16722	0.007;0.016;0.007;0.007	T	0.34950	-0.9808	10	0.52906	T	0.07	.	5.0375	0.14441	0.0:0.3958:0.1732:0.431	.	221;282;332;331	Q5TAS6;B4E1U5;Q96DU3;B2R8X8	.;.;SLAF6_HUMAN;.	M	331;332;221	ENSP00000357038:V331M;ENSP00000357036:V332M;ENSP00000357034:V221M	ENSP00000357034:V221M	V	-	1	0	SLAMF6	158723126	0.003000	0.15002	0.001000	0.08648	0.066000	0.16364	-0.142000	0.10311	-0.428000	0.07339	-1.105000	0.02106	GTG		0.483	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931	
KLHDC8A	55220	broad.mit.edu	37	1	205312607	205312607	+	Silent	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:205312607G>A	ENST00000367156.3	-	5	942	c.126C>T	c.(124-126)aaC>aaT	p.N42N	KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000606529.1_5'Flank|KLHDC8A_ENST00000367155.3_Silent_p.N42N|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000539253.1_Silent_p.N42N	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	42										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGGGACGCCGTTGTCGTCAC	0.716																																						uc001hcf.1																			0				ovary(1)	1						c.(124-126)AAC>AAT		kelch domain containing 8A							34.0	36.0	35.0					1																	205312607		2202	4299	6501	SO:0001819	synonymous_variant	55220							g.chr1:205312607G>A		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.126C>T	1.37:g.205312607G>A						KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Silent_p.N42N	p.N42N	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	694	-	Breast(84;0.23)		42			Kelch 2.		B3KU70|Q9NVG5	Silent	SNP	ENST00000367156.3	37	c.126C>T	CCDS30985.1																																																																																				0.716	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203	
RAB3GAP2	25782	broad.mit.edu	37	1	220340949	220340949	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:220340949C>A	ENST00000358951.2	-	25	2991	c.2875G>T	c.(2875-2877)Gct>Tct	p.A959S		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	959					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTTCATTAGCCAGTTTTAAT	0.398																																						uc010puk.1																			0				central_nervous_system(1)	1						c.(2875-2877)GCT>TCT		rab3 GTPase-activating protein, non-catalytic							191.0	198.0	195.0					1																	220340949		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220340949C>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2875G>T	1.37:g.220340949C>A	ENSP00000351832:p.Ala959Ser					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A539S|RAB3GAP2_uc001hmh.2_5'Flank	p.A959S	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	25	3039	-			959					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.2875G>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322811	0.41096	.	.	ENSG00000118873	ENST00000358951	T	0.30981	1.51	5.92	5.92	0.95590	.	0.468148	0.26773	N	0.022573	T	0.19087	0.0458	N	0.08118	0	0.38965	D	0.958629	B	0.22541	0.071	B	0.21151	0.033	T	0.13953	-1.0490	10	0.12430	T	0.62	.	20.3065	0.98633	0.0:1.0:0.0:0.0	.	959	Q9H2M9	RBGPR_HUMAN	S	959	ENSP00000351832:A959S	ENSP00000351832:A959S	A	-	1	0	RAB3GAP2	218407572	1.000000	0.71417	0.961000	0.40146	0.944000	0.59088	4.157000	0.58144	2.809000	0.96659	0.650000	0.86243	GCT		0.398	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	
HHIPL2	79802	broad.mit.edu	37	1	222717502	222717502	+	Silent	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:222717502G>A	ENST00000343410.6	-	2	409	c.351C>T	c.(349-351)taC>taT	p.Y117Y		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	117					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTTCGGCGTCGTAGAGGTGGG	0.567																																						uc001hnh.1																			0				ovary(1)	1						c.(349-351)TAC>TAT		HHIP-like 2 precursor							78.0	89.0	85.0					1																	222717502		1958	4145	6103	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717502G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.351C>T	1.37:g.222717502G>A							p.Y117Y	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	409	-			117					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.351C>T	CCDS1530.2																																																																																				0.567	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	
NUP133	55746	broad.mit.edu	37	1	229606471	229606471	+	Silent	SNP	G	G	A	rs374819603		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:229606471G>A	ENST00000261396.3	-	15	2023	c.1932C>T	c.(1930-1932)gcC>gcT	p.A644A	NUP133_ENST00000537506.1_Silent_p.A628A	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	644					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACAGCTTTTCGGCATGCTCAC	0.493																																						uc001htn.2																			0				breast(4)|skin(2)|ovary(1)	7						c.(1930-1932)GCC>GCT		nucleoporin 133kDa							104.0	94.0	98.0					1																	229606471		2203	4300	6503	SO:0001819	synonymous_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229606471G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1932C>T	1.37:g.229606471G>A							p.A644A	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			15	2024	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	644					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	c.1932C>T	CCDS1579.1																																																																																				0.493	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	
ARHGAP22	58504	broad.mit.edu	37	10	49667897	49667897	+	Silent	SNP	G	G	A	rs78086414	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr10:49667897G>A	ENST00000249601.4	-	5	785	c.489C>T	c.(487-489)caC>caT	p.H163H	ARHGAP22_ENST00000417247.2_Silent_p.H73H|ARHGAP22_ENST00000374170.1_Silent_p.H73H|ARHGAP22_ENST00000374172.1_Silent_p.H54H|ARHGAP22_ENST00000417912.2_Silent_p.H179H|ARHGAP22_ENST00000435790.2_Silent_p.H169H	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	163	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTCCGCTCGTGGTGGACTG	0.642													G|||	4	0.000798722	0.0	0.0	5008	,	,		19033	0.001		0.0	False		,,,				2504	0.0031					uc001jgt.2																			0				ovary(1)	1						c.(487-489)CAC>CAT		Rho GTPase activating protein 2		G		0,4406		0,0,2203	36.0	37.0	37.0		489	-9.8	0.3	10	dbSNP_131	37	1,8595		0,1,4297	no	coding-synonymous	ARHGAP22	NM_021226.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		163/699	49667897	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49667897G>A	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.489C>T	10.37:g.49667897G>A						ARHGAP22_uc001jgs.2_Silent_p.H73H|ARHGAP22_uc001jgu.2_Silent_p.H179H|ARHGAP22_uc010qgl.1_Silent_p.H120H|ARHGAP22_uc010qgm.1_Silent_p.H169H|ARHGAP22_uc001jgv.2_Translation_Start_Site	p.H163H	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN			5	786	-			163			Rho-GAP.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	c.489C>T	CCDS7227.1																																																																																				0.642	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226	
TLL2	7093	broad.mit.edu	37	10	98156950	98156950	+	Silent	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr10:98156950C>T	ENST00000357947.3	-	11	1602	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	459	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A459A(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AACCTTCGTACGCTGCAAAGA	0.622																																						uc001kml.1																			1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1375-1377)GCG>GCA		tolloid-like 2 precursor							75.0	62.0	66.0					10																	98156950		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98156950C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1377G>A	10.37:g.98156950C>T						TLL2_uc009xvf.1_Silent_p.A437A	p.A459A	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1603	-		Colorectal(252;0.0846)	459			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.1377G>A	CCDS7449.1																																																																																				0.622	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		
OR4D10	390197	broad.mit.edu	37	11	59244963	59244963	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr11:59244963C>T	ENST00000530162.1	+	1	118	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACCCAGAATCGGGAAGTGAG	0.413																																						uc001nnz.1																			0				ovary(2)|skin(1)	3						c.(61-63)CGG>TGG		olfactory receptor, family 4, subfamily D,							90.0	93.0	92.0					11																	59244963		2000	4166	6166	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59244963C>T	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.61C>T	11.37:g.59244963C>T	ENSP00000436424:p.Arg21Trp						p.R21W	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	61	+			21			Extracellular (Potential).		B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.61C>T	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	9.421	1.082998	0.20309	.	.	ENSG00000254466	ENST00000530162	T	0.00012	9.32	4.2	2.28	0.28536	.	.	.	.	.	T	0.00073	0.0002	N	0.10645	0.015	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18935	-1.0321	9	0.51188	T	0.08	.	13.8978	0.63783	0.0:0.9114:0.0:0.0886	.	21	Q8NGI6	OR4DA_HUMAN	W	21	ENSP00000436424:R21W	ENSP00000436424:R21W	R	+	1	2	OR4D10	59001539	0.000000	0.05858	0.006000	0.13384	0.000000	0.00434	0.403000	0.20982	0.320000	0.23234	-0.907000	0.02831	CGG		0.413	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705	
PKNOX2	63876	broad.mit.edu	37	11	125255470	125255470	+	Missense_Mutation	SNP	C	C	T	rs201383194		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr11:125255470C>T	ENST00000298282.9	+	6	522	c.251C>T	c.(250-252)aCg>aTg	p.T84M	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.T20M	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	84					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCGCTCCTGACGCTGCTGTTT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19762	0.0		0.001	False		,,,				2504	0.0					uc001qbu.2																			0				ovary(3)	3						c.(250-252)ACG>ATG		PBX/knotted 1 homeobox 2		C	MET/THR	1,4197		0,1,2098	121.0	123.0	123.0		251	5.5	1.0	11		123	16,8462		0,16,4223	yes	missense	PKNOX2	NM_022062.2	81	0,17,6321	TT,TC,CC		0.1887,0.0238,0.1341	probably-damaging	84/473	125255470	17,12659	2099	4239	6338	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125255470C>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.251C>T	11.37:g.125255470C>T	ENSP00000298282:p.Thr84Met					PKNOX2_uc010saz.1_Missense_Mutation_p.T55M|PKNOX2_uc010sba.1_Missense_Mutation_p.T55M|PKNOX2_uc010sbb.1_Missense_Mutation_p.T20M	p.T84M	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	6	565	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	84					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.251C>T	CCDS41730.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	32	5.154745	0.94686	2.38E-4	0.001887	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	T;T;T;T	0.52526	0.66;0.66;0.66;1.55	5.51	5.51	0.81932	.	0.097175	0.64402	D	0.000001	T	0.54367	0.1854	N	0.19112	0.55	0.58432	D	0.999999	D;D	0.69078	0.997;0.99	P;P	0.62014	0.897;0.469	T	0.60244	-0.7301	10	0.87932	D	0	-12.7131	19.4198	0.94716	0.0:1.0:0.0:0.0	.	20;84	F5GZ15;Q96KN3	.;PKNX2_HUMAN	M	55;55;84;20;72	ENSP00000434732:T55M;ENSP00000433971:T55M;ENSP00000298282:T84M;ENSP00000441470:T20M	ENSP00000298282:T84M	T	+	2	0	PKNOX2	124760680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.590000	0.87494	0.655000	0.94253	ACG		0.567	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3		
DDX11L8	100302090	broad.mit.edu	37	12	92920	92920	+	IGR	SNP	C	C	G	rs370608277		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr12:92920C>G								AC215219.1 (19598 upstream) : AC026369.1 (54131 downstream)																							ACTCACAAGACTGTGATCCAA	0.622																																						uc010sdi.1																			0											c.(70-72)AGT>ACT		SubName: Full=DEAD/H box polypeptide 11 like 11;																																				SO:0001628	intergenic_variant	0							g.chr12:92920C>G																													12.37:g.92920C>G						uc010sdj.1_RNA	p.S24T							1	99	-									Missense_Mutation	SNP		37	c.71G>C																																																																																				0	0.622								
LTBR	4055	broad.mit.edu	37	12	6497971	6497971	+	Silent	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr12:6497971C>T	ENST00000228918.4	+	8	1107	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	LTBR_ENST00000539925.1_Silent_p.L242L|LTBR_ENST00000541102.1_Silent_p.L118L	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	261					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						TGCAGGATCGCTGCTCAAGAG	0.562																																						uc001qny.1																			0				lung(2)	2						c.(781-783)CTG>TTG		lymphotoxin beta receptor precursor							89.0	94.0	93.0					12																	6497971		2203	4300	6503	SO:0001819	synonymous_variant	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6497971C>T	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.781C>T	12.37:g.6497971C>T						LTBR_uc010sfc.1_Silent_p.L242L|LTBR_uc001qnz.1_Silent_p.L256L	p.L261L	NM_002342	NP_002333	P36941	TNR3_HUMAN			8	949	+			261			Cytoplasmic (Potential).		B7Z1D2|D3DUR2|F5GXE7	Silent	SNP	ENST00000228918.4	37	c.781C>T	CCDS8544.1																																																																																				0.562	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1		
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716																																						uc001smz.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(622-624)TTC>CTC		NGFI-A binding protein 2							12.0	17.0	15.0					12																	57485446		2196	4277	6473	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485446T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.622T>C	12.37:g.57485446T>C	ENSP00000300131:p.Phe208Leu						p.F208L	NM_005967	NP_005958	Q15742	NAB2_HUMAN			2	1000	+			208					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.622T>C	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473597	0.26423	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.15	4.15	0.48705	NAB co-repressor, domain (1);	0.441905	0.22768	N	0.055868	T	0.21801	0.0525	N	0.11427	0.14	0.33270	D	0.560932	P	0.43826	0.818	B	0.41466	0.358	T	0.14392	-1.0474	9	0.10902	T	0.67	-12.462	9.5058	0.39046	0.0:0.0:0.0:1.0	.	208	Q15742	NAB2_HUMAN	L	208	.	ENSP00000300131:F208L	F	+	1	0	NAB2	55771713	0.994000	0.37717	0.852000	0.33557	0.975000	0.68041	0.652000	0.24888	1.732000	0.51606	0.379000	0.24179	TTC		0.716	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967	
SLC17A8	246213	broad.mit.edu	37	12	100811900	100811900	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr12:100811900G>A	ENST00000323346.5	+	11	1704	c.1391G>A	c.(1390-1392)tGt>tAt	p.C464Y	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.C414Y	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	464					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGAATGGTCTGTCCCCTCATT	0.498																																						uc010svi.1																			0				ovary(3)	3						c.(1390-1392)TGT>TAT		solute carrier family 17 (sodium-dependent							176.0	160.0	165.0					12																	100811900		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100811900G>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1391G>A	12.37:g.100811900G>A	ENSP00000316909:p.Cys464Tyr					SLC17A8_uc009ztx.2_Missense_Mutation_p.C414Y	p.C464Y	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			11	1704	+			464			Helical; (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1391G>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737065	0.89482	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.57273	0.41;0.59	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.78323	0.4265	M	0.88640	2.97	0.80722	D	1	D;D	0.67145	0.996;0.991	D;D	0.75020	0.985;0.954	T	0.81856	-0.0740	10	0.87932	D	0	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	464;414	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	Y	464;414	ENSP00000316909:C464Y;ENSP00000376715:C414Y	ENSP00000316909:C464Y	C	+	2	0	SLC17A8	99336031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.810000	0.99221	2.769000	0.95229	0.650000	0.86243	TGT		0.498	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319	
SIAH3	283514	broad.mit.edu	37	13	46358034	46358034	+	Silent	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr13:46358034G>A	ENST00000400405.2	-	2	400	c.294C>T	c.(292-294)caC>caT	p.H98H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	98	His-rich.				multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CCGGGTTGGCGTGCAGCCCCG	0.682																																						uc001vap.2																			0				ovary(1)|skin(1)	2						c.(292-294)CAC>CAT		seven in absentia homolog 3							46.0	51.0	49.0					13																	46358034		2155	4234	6389	SO:0001819	synonymous_variant	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46358034G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.294C>T	13.37:g.46358034G>A							p.H98H	NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN			2	376	-			98			SIAH-type; degenerate.|His-rich.		B7ZBP0|Q8N8M6	Silent	SNP	ENST00000400405.2	37	c.294C>T	CCDS41883.1																																																																																				0.682	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849	
NRXN3	9369	broad.mit.edu	37	14	80328137	80328137	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr14:80328137G>A	ENST00000557594.1	+	6	2697	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T	NRXN3_ENST00000428277.2_Missense_Mutation_p.A404T|NRXN3_ENST00000335750.5_Missense_Mutation_p.A1006T|NRXN3_ENST00000554719.1_Missense_Mutation_p.A1006T|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Missense_Mutation_p.A377T	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	582					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTCCTGTACGCCATGTACAA	0.597																																						uc001xun.2																			0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(3016-3018)GCC>ACC		neurexin 3 isoform 1 precursor							73.0	64.0	67.0					14																	80328137		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:80328137G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1744G>A	14.37:g.80328137G>A	ENSP00000451672:p.Ala582Thr					NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.A582T|NRXN3_uc010asw.2_Missense_Mutation_p.A404T|NRXN3_uc001xur.3_Missense_Mutation_p.A377T	p.A1006T	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	17	3507	+		Renal(4;0.00876)	1588			Helical; (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.3016G>A		.	.	.	.	.	.	.	.	.	.	G	29.6	5.016617	0.93404	.	.	ENSG00000021645	ENST00000330071;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.72615	-0.67;-0.67;0.83;1.19;0.94	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.85553	0.5723	M	0.79123	2.44	0.47276	D	0.999374	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.991	D	0.83788	0.0229	9	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	404;377;582;1006	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	T	1588;1006;1006;582;377;404	ENSP00000451648:A1006T;ENSP00000338349:A1006T;ENSP00000451672:A582T;ENSP00000281127:A377T;ENSP00000394426:A404T	.	A	+	1	0	NRXN3	79397890	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GCC		0.597	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250	
DIO3	1735	broad.mit.edu	37	14	102028607	102028607	+	Silent	SNP	C	C	T	rs186983663	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr14:102028607C>T	ENST00000510508.4	+	1	920	c.774C>T	c.(772-774)ttC>ttT	p.F258F	DIO3_ENST00000359323.3_Silent_p.F232F|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	258					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCGCCTACTTCGAGCGTCTCT	0.632													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19300	0.0		0.0	False		,,,				2504	0.0					uc010txq.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(694-696)TTC>TTT		deiodinase, iodothyronine, type III		C		5,4179		0,5,2087	54.0	61.0	58.0		774	0.7	1.0	14		58	0,8402		0,0,4201	no	coding-synonymous	DIO3	NM_001362.3		0,5,6288	TT,TC,CC		0.0,0.1195,0.0397		258/305	102028607	5,12581	2092	4201	6293	SO:0001819	synonymous_variant	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028607C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.774C>T	14.37:g.102028607C>T						DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	p.F232F	NM_001362	NP_001353	P55073	IOD3_HUMAN			2	920	+		all_neural(303;0.185)	232			Extracellular (Potential).		G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	c.696C>T	CCDS41992.2																																																																																				0.632	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362	
GOLGA6L6	727832	broad.mit.edu	37	15	20743796	20743796	+	Silent	SNP	C	C	T	rs200673320		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr15:20743796C>T	ENST00000427390.2	-	4	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	136								p.T136T(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493																																						uc001ytk.2																			1	Substitution - coding silent(1)		endometrium(1)		0						c.(406-408)ACG>ACA		golgi autoantigen, golgin subfamily a, 6-like 6							31.0	8.0	19.0					15																	20743796		336	402	738	SO:0001819	synonymous_variant	727832							g.chr15:20743796C>T	AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.408G>A	15.37:g.20743796C>T							p.T136T	NM_001145004	NP_001138476	A8MZA4	GG6L6_HUMAN			4	499	-			136			Potential.		D3YTC0	Silent	SNP	ENST00000427390.2	37	c.408G>A	CCDS45184.1																																																																																				0.493	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004	
CEP152	22995	broad.mit.edu	37	15	49076318	49076318	+	Splice_Site	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr15:49076318C>T	ENST00000380950.2	-	10	1361		c.e10-1		CEP152_ENST00000399334.3_Splice_Site|CEP152_ENST00000325747.5_Splice_Site|RP11-485O10.2_ENST00000558304.1_RNA	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa						cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AAATGTCTTCCTAAATAGAAA	0.294																																						uc001zwy.2																			0				lung(2)	2						c.e10-1		centrosomal protein 152kDa							61.0	54.0	56.0					15																	49076318		1811	4067	5878	SO:0001630	splice_region_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49076318C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1174-1G>A	15.37:g.49076318C>T						CEP152_uc001zwz.2_Splice_Site_p.E392_splice|CEP152_uc001zxa.1_Splice_Site_p.E299_splice	p.E392_splice	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	10	1208	-		all_lung(180;0.0428)						E7ER66|Q17RV1|Q6NTA0	Splice_Site	SNP	ENST00000380950.2	37	c.1174_splice	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006471	0.35415	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6775	0.91534	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP152	46863610	1.000000	0.71417	0.992000	0.48379	0.297000	0.27493	3.819000	0.55686	2.518000	0.84900	0.563000	0.77884	.		0.294	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	Intron
SMG1	23049	broad.mit.edu	37	16	18853724	18853724	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr16:18853724C>T	ENST00000446231.2	-	40	6684	c.6272G>A	c.(6271-6273)cGt>cAt	p.R2091H	SMG1_ENST00000389467.3_Missense_Mutation_p.R2091H			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2091					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCTTCAAGACGCAAGATGTA	0.408																																						uc002dfm.2																			0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(6271-6273)CGT>CAT		PI-3-kinase-related kinase SMG-1							100.0	90.0	93.0					16																	18853724		1931	4142	6073	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18853724C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6272G>A	16.37:g.18853724C>T	ENSP00000402515:p.Arg2091His					SMG1_uc010bwb.2_Missense_Mutation_p.R1951H|SMG1_uc010bwa.2_Missense_Mutation_p.R822H|SMG1_uc002dfo.3_Missense_Mutation_p.R389H	p.R2091H	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			40	6635	-			2091					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.6272G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695336	0.68386	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.81078	-1.45;-1.45	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.75110	0.3805	L	0.31926	0.97	0.45995	D	0.998803	B;B	0.17465	0.022;0.015	B;B	0.09377	0.004;0.002	T	0.69113	-0.5231	10	0.52906	T	0.07	.	19.8814	0.96900	0.0:1.0:0.0:0.0	.	1951;2091	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	H	2091	ENSP00000402515:R2091H;ENSP00000374118:R2091H	ENSP00000374118:R2091H	R	-	2	0	SMG1	18761225	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.636000	0.61339	2.778000	0.95560	0.591000	0.81541	CGT		0.408	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
FAM83G	644815	broad.mit.edu	37	17	18875008	18875008	+	Silent	SNP	G	G	A	rs187116335		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:18875008G>A	ENST00000388995.6	-	6	2359	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	FAM83G_ENST00000345041.4_Silent_p.D712D|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Silent_p.D712D|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	712					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGGGAAGCCGTCTTTATCCC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17217	0.001		0.0	False		,,,				2504	0.0					uc002guw.2																			0				ovary(1)|central_nervous_system(1)	2						c.(2134-2136)GAC>GAT		hypothetical protein LOC644815		G	,,	0,3986		0,0,1993	47.0	56.0	53.0		2136,,	-4.4	0.1	17		53	3,8305		0,3,4151	no	coding-synonymous,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	,,	0,3,6144	AA,AG,GG		0.0361,0.0,0.0244	,,	712/824,,	18875008	3,12291	1993	4154	6147	SO:0001819	synonymous_variant	644815							g.chr17:18875008G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2136C>T	17.37:g.18875008G>A						SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.D712D	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			6	2303	-			712					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.2136C>T	CCDS42276.1																																																																																				0.622	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4		
KCNJ12	3768	broad.mit.edu	37	17	21319359	21319359	+	Silent	SNP	G	G	A	rs147653221	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:21319359G>A	ENST00000583088.1	+	3	1600	c.705G>A	c.(703-705)ccG>ccA	p.P235P	KCNJ12_ENST00000331718.5_Silent_p.P235P	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	235					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TCATCAAGCCGCGGGTCACCG	0.632										Prostate(3;0.18)																												uc002gyv.1																			0				ovary(3)|skin(1)	4						c.(703-705)CCG>CCA		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)	G		11,4395	11.4+/-27.6	0,11,2192	93.0	72.0	79.0		705	-7.4	0.2	17	dbSNP_134	79	11,8589	6.4+/-24.3	0,11,4289	no	coding-synonymous	KCNJ12	NM_021012.4		0,22,6481	AA,AG,GG		0.1279,0.2497,0.1692		235/434	21319359	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319359G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.705G>A	17.37:g.21319359G>A		Prostate(3;0.18)					p.P235P	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1410	+			235			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.705G>A	CCDS11219.1																																																																																				0.632	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
CNTNAP1	8506	broad.mit.edu	37	17	40843451	40843451	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:40843451C>A	ENST00000264638.4	+	15	2483	c.2266C>A	c.(2266-2268)Cag>Aag	p.Q756K	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	756	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCCTGTCACTCAGGTAGTGAT	0.587																																						uc002iay.2																			0				ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(2266-2268)CAG>AAG		contactin associated protein 1 precursor							103.0	86.0	92.0					17																	40843451		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843451C>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2266C>A	17.37:g.40843451C>A	ENSP00000264638:p.Gln756Lys					CNTNAP1_uc010wgs.1_RNA	p.Q756K	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	15	2482	+		Breast(137;0.000143)	756			Extracellular (Potential).|Fibrinogen C-terminal.			Missense_Mutation	SNP	ENST00000264638.4	37	c.2266C>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684474	0.47991	.	.	ENSG00000108797	ENST00000264638	T	0.12879	2.64	5.31	5.31	0.75309	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.086033	0.50627	D	0.000103	T	0.16599	0.0399	L	0.48218	1.51	0.38663	D	0.952118	B	0.28998	0.23	B	0.30716	0.119	T	0.05903	-1.0857	10	0.27082	T	0.32	.	19.1626	0.93539	0.0:1.0:0.0:0.0	.	756	P78357	CNTP1_HUMAN	K	756	ENSP00000264638:Q756K	ENSP00000264638:Q756K	Q	+	1	0	CNTNAP1	38096977	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.789000	0.62446	2.768000	0.95171	0.561000	0.74099	CAG		0.587	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	
METRNL	284207	broad.mit.edu	37	17	81042908	81042908	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:81042908C>A	ENST00000320095.7	+	2	390	c.265C>A	c.(265-267)Ctc>Atc	p.L89I	METRNL_ENST00000571814.1_Missense_Mutation_p.L7I|METRNL_ENST00000570778.1_Missense_Mutation_p.L7I	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	89					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AACAGGTGCTCTCATCGTTAA	0.617																																						uc002kgh.2																			0					0						c.(265-267)CTC>ATC		meteorin, glial cell differentiation							137.0	134.0	135.0					17																	81042908		2203	4300	6503	SO:0001583	missense	284207					extracellular region		g.chr17:81042908C>A	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.265C>A	17.37:g.81042908C>A	ENSP00000315731:p.Leu89Ile					METRNL_uc002kgi.2_Missense_Mutation_p.L7I	p.L89I	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		2	390	+	Breast(20;0.000443)|all_neural(118;0.0779)		89					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.265C>A	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	c	12.13	1.846265	0.32606	.	.	ENSG00000176845	ENST00000320095	.	.	.	4.27	4.27	0.50696	.	0.119134	0.56097	D	0.000031	T	0.56426	0.1984	L	0.47016	1.485	0.34633	D	0.719879	D	0.61697	0.99	P	0.57152	0.814	T	0.65384	-0.6181	8	.	.	.	-35.8667	9.7901	0.40699	0.2054:0.7946:0.0:0.0	.	89	Q641Q3	METRL_HUMAN	I	89	.	.	L	+	1	0	METRNL	78636197	0.996000	0.38824	0.981000	0.43875	0.025000	0.11179	3.439000	0.52878	2.392000	0.81423	0.552000	0.68991	CTC		0.617	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431	
METRNL	284207	broad.mit.edu	37	17	81042984	81042984	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:81042984C>T	ENST00000320095.7	+	2	466	c.341C>T	c.(340-342)tCc>tTc	p.S114F	METRNL_ENST00000571814.1_Missense_Mutation_p.S32F|METRNL_ENST00000570778.1_Missense_Mutation_p.S32F	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	114					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TTCACGGACTCCTCGGGGGCC	0.592																																						uc002kgh.2																			0					0						c.(340-342)TCC>TTC		meteorin, glial cell differentiation							71.0	77.0	75.0					17																	81042984		2203	4300	6503	SO:0001583	missense	284207					extracellular region		g.chr17:81042984C>T	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.341C>T	17.37:g.81042984C>T	ENSP00000315731:p.Ser114Phe					METRNL_uc002kgi.2_Missense_Mutation_p.S32F	p.S114F	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		2	466	+	Breast(20;0.000443)|all_neural(118;0.0779)		114					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.341C>T	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	c	3.783	-0.045222	0.07452	.	.	ENSG00000176845	ENST00000320095	.	.	.	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	N	0.25144	0.715	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.60188	-0.7312	8	.	.	.	-38.0803	14.6277	0.68635	0.0:1.0:0.0:0.0	.	114	Q641Q3	METRL_HUMAN	F	114	.	.	S	+	2	0	METRNL	78636273	1.000000	0.71417	0.960000	0.40013	0.725000	0.41563	4.273000	0.58914	2.392000	0.81423	0.552000	0.68991	TCC		0.592	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431	
MUC16	94025	broad.mit.edu	37	19	9026244	9026244	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:9026244G>A	ENST00000397910.4	-	14	36945	c.36742C>T	c.(36742-36744)Cgt>Tgt	p.R12248C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12250	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						CCAGTGCGACGCATGTCCTCC	0.542																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(36742-36744)CGT>TGT		mucin 16							247.0	226.0	233.0					19																	9026244		2080	4214	6294	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9026244G>A	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.36742C>T	19.37:g.9026244G>A	ENSP00000381008:p.Arg12248Cys						p.R12248C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			14	36946	-			12250			SEA 2.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36742C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.755	-0.050842	0.07407	.	.	ENSG00000181143	ENST00000397910	T	0.29397	1.57	2.58	-5.15	0.02866	.	.	.	.	.	T	0.21145	0.0509	L	0.47716	1.5	.	.	.	P	0.39044	0.656	B	0.38562	0.276	T	0.05305	-1.0893	8	0.87932	D	0	.	2.2806	0.04113	0.14:0.2219:0.4387:0.1994	.	12248	B5ME49	.	C	12248	ENSP00000381008:R12248C	ENSP00000381008:R12248C	R	-	1	0	MUC16	8887244	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.232000	0.00547	-2.907000	0.00309	0.195000	0.17529	CGT		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9085463	9085463	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:9085463C>T	ENST00000397910.4	-	1	6555	c.6352G>A	c.(6352-6354)Gcg>Acg	p.A2118T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2118	Ser-rich.|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						AAAGTACTCGCGGCTGTATTC	0.488																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6352-6354)GCG>ACG		mucin 16							130.0	127.0	128.0					19																	9085463		1925	4126	6051	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085463C>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.6352G>A	19.37:g.9085463C>T	ENSP00000381008:p.Ala2118Thr						p.A2118T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6556	-			2118			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6352G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.540505	0.27563	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.235	0.235	0.15431	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.10296	0.003	B	0.06405	0.002	T	0.44065	-0.9352	7	0.87932	D	0	.	.	.	.	.	2118	B5ME49	.	T	2118	ENSP00000381008:A2118T	ENSP00000381008:A2118T	A	-	1	0	MUC16	8946463	0.005000	0.15991	0.009000	0.14445	0.009000	0.06853	-0.509000	0.06336	-0.656000	0.05380	-0.647000	0.03941	GCG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MAN2B1	4125	broad.mit.edu	37	19	12768940	12768940	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:12768940C>G	ENST00000456935.2	-	10	1286	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q	MAN2B1_ENST00000221363.4_Missense_Mutation_p.E415Q|MAN2B1_ENST00000495617.1_Intron	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	416					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACCAGCGCCTCCAGCTGGTTG	0.687																																						uc002mub.2																			0				ovary(4)|central_nervous_system(2)	6						c.(1246-1248)GAG>CAG		mannosidase, alpha, class 2B, member 1							23.0	28.0	26.0					19																	12768940		2203	4298	6501	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12768940C>G		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1246G>C	19.37:g.12768940C>G	ENSP00000395473:p.Glu416Gln					MAN2B1_uc010dyv.1_Missense_Mutation_p.E415Q	p.E416Q	NM_000528	NP_000519	O00754	MA2B1_HUMAN			10	1322	-			416					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.1246G>C	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418049	0.62622	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.82433	-1.61;-1.61	4.95	4.95	0.65309	Glycoside hydrolase, family 38, central domain (2);	0.486110	0.16411	N	0.215592	D	0.90232	0.6946	M	0.76433	2.335	0.51233	D	0.999918	P;D	0.53619	0.759;0.961	B;D	0.66351	0.437;0.943	D	0.90000	0.4114	10	0.51188	T	0.08	-29.991	15.7237	0.77736	0.0:1.0:0.0:0.0	.	415;416	G5E928;O00754	.;MA2B1_HUMAN	Q	416;355;415	ENSP00000395473:E416Q;ENSP00000221363:E415Q	ENSP00000221363:E415Q	E	-	1	0	MAN2B1	12629940	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.699000	0.68310	2.295000	0.77249	0.306000	0.20318	GAG		0.687	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		
IL12RB1	3594	broad.mit.edu	37	19	18171938	18171938	+	Silent	SNP	C	C	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:18171938C>A	ENST00000600835.2	-	16	2083	c.1785G>T	c.(1783-1785)ggG>ggT	p.G595G	IL12RB1_ENST00000593993.2_Silent_p.G595G			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	595					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TTACCTCCTTCCCTCCAGGGA	0.552																																						uc002nhw.1																			0				pancreas(1)	1						c.(1783-1785)GGG>GGT		interleukin 12 receptor, beta 1 isoform 1							40.0	43.0	42.0					19																	18171938		1944	4139	6083	SO:0001819	synonymous_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18171938C>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1785G>T	19.37:g.18171938C>A						IL12RB1_uc010xqb.1_Silent_p.G595G|IL12RB1_uc002nhx.1_Silent_p.G635G	p.G595G	NM_005535	NP_005526	P42701	I12R1_HUMAN			15	1849	-			595			Cytoplasmic (Potential).		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.1785G>T	CCDS54232.1																																																																																				0.552	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3		
KMT2B	9757	broad.mit.edu	37	19	36212329	36212329	+	Missense_Mutation	SNP	C	C	T	rs372982681		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:36212329C>T	ENST00000222270.7	+	3	2080	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	KMT2B_ENST00000420124.1_Missense_Mutation_p.R694W|KMT2B_ENST00000341701.1_Silent_p.L549L|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	694	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCCTGAGCCTCGGGCAGTGGG	0.642																																						uc010eei.2																			0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(2080-2082)CGG>TGG		myeloid/lymphoid or mixed-lineage leukemia 4		C	TRP/ARG	0,4086		0,0,2043	18.0	22.0	21.0		2080	3.8	0.9	19		21	1,8367		0,1,4183	no	missense	MLL4	NM_014727.1	101	0,1,6226	TT,TC,CC		0.012,0.0,0.0080	probably-damaging	694/2716	36212329	1,12453	2043	4184	6227	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36212329C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2080C>T	19.37:g.36212329C>T	ENSP00000222270:p.Arg694Trp						p.R694W	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	2080	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		694			Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2080C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056876	0.55325	0.0	1.2E-4	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.85339	-1.97;-1.97	4.86	3.8	0.43715	.	0.000000	0.37219	N	0.002191	D	0.82866	0.5130	N	0.14661	0.345	0.35362	D	0.788301	D	0.76494	0.999	P	0.62014	0.897	D	0.86629	0.1884	10	0.51188	T	0.08	.	11.3844	0.49776	0.1885:0.8115:0.0:0.0	.	694	Q9UMN6	MLL4_HUMAN	W	694	ENSP00000222270:R694W;ENSP00000398837:R694W	ENSP00000222270:R694W	R	+	1	2	AD000671.1	40904169	0.166000	0.22962	0.928000	0.36995	0.992000	0.81027	0.487000	0.22356	1.218000	0.43458	0.555000	0.69702	CGG		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
NLRP12	91662	broad.mit.edu	37	19	54327194	54327194	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:54327194G>A	ENST00000324134.6	-	1	403	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	NLRP12_ENST00000354278.3_Missense_Mutation_p.R79W|NLRP12_ENST00000391772.1_Missense_Mutation_p.R79W|NLRP12_ENST00000535162.1_Missense_Mutation_p.R79W|NLRP12_ENST00000345770.5_Missense_Mutation_p.R79W|NLRP12_ENST00000351894.4_Missense_Mutation_p.R79W|NLRP12_ENST00000391773.1_Missense_Mutation_p.R79W|NLRP12_ENST00000391775.3_Missense_Mutation_p.R79W	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	79	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGTTTATCCGCTCAAAGGTG	0.622																																						uc002qch.3																			0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(235-237)CGG>TGG		NLR family, pyrin domain containing 12 isoform							104.0	102.0	103.0					19																	54327194		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54327194G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.235C>T	19.37:g.54327194G>A	ENSP00000319377:p.Arg79Trp					NLRP12_uc002qci.3_Missense_Mutation_p.R79W|NLRP12_uc002qcj.3_Missense_Mutation_p.R79W|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R79W	p.R79W	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	1	455	-	Ovarian(34;0.19)		79			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.235C>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	5.960	0.361152	0.11296	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27	4.87	-1.76	0.08006	Pyrin (2);DEATH-like (2);	0.188500	0.25774	N	0.028399	T	0.42040	0.1185	L	0.50333	1.59	0.09310	N	0.999999	B;B;B;B	0.19935	0.04;0.04;0.04;0.04	B;B;B;B	0.19148	0.024;0.002;0.002;0.002	T	0.29579	-1.0007	10	0.51188	T	0.08	.	3.9705	0.09451	0.194:0.0:0.307:0.499	.	79;79;79;79	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	W	79	ENSP00000319377:R79W;ENSP00000438030:R79W;ENSP00000340473:R79W;ENSP00000346231:R79W;ENSP00000375655:R79W;ENSP00000375653:R79W;ENSP00000375652:R79W	ENSP00000319377:R79W	R	-	1	2	NLRP12	59019006	0.001000	0.12720	0.014000	0.15608	0.092000	0.18411	0.142000	0.16096	0.148000	0.19059	-0.439000	0.05793	CGG		0.622	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
LILRB2	10288	broad.mit.edu	37	19	54782762	54782762	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:54782762C>G	ENST00000391749.4	-	6	1131	c.860G>C	c.(859-861)aGc>aCc	p.S287T	LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_Missense_Mutation_p.S287T|LILRB2_ENST00000434421.1_Missense_Mutation_p.S171T|LILRB2_ENST00000391746.1_Missense_Mutation_p.S287T|LILRB2_ENST00000391748.1_Missense_Mutation_p.S287T	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	287	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGAGCGGCTCACAGGGCC	0.647																																						uc002qfb.2																			0				skin(1)	1						c.(859-861)AGC>ACC		leukocyte immunoglobulin-like receptor,							40.0	41.0	41.0					19																	54782762		2203	4295	6498	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782762C>G	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.860G>C	19.37:g.54782762C>G	ENSP00000375629:p.Ser287Thr					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.S287T|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.S287T|LILRB2_uc010yet.1_Missense_Mutation_p.S171T|LILRB2_uc010yeu.1_RNA	p.S287T	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1126	-	Ovarian(34;0.19)		287			Extracellular (Potential).|Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.860G>C	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963709	0.34659	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	2.87	0.51	0.16983	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.368370	0.01419	N	0.014306	T	0.18551	0.0445	N	0.17800	0.525	0.09310	N	1	B;P;B	0.42456	0.061;0.78;0.263	B;P;P	0.54026	0.144;0.74;0.469	T	0.23013	-1.0200	10	0.62326	D	0.03	.	5.8253	0.18550	0.0:0.6923:0.0:0.3077	.	287;304;287	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	T	287;287;287;287;171	ENSP00000375628:S287T;ENSP00000319960:S287T;ENSP00000375629:S287T;ENSP00000375626:S287T;ENSP00000410117:S171T	ENSP00000319960:S287T	S	-	2	0	LILRB2	59474574	0.000000	0.05858	0.001000	0.08648	0.424000	0.31475	-0.575000	0.05861	0.335000	0.23614	0.449000	0.29647	AGC		0.647	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1		
TUBA4B	80086	broad.mit.edu	37	2	220136351	220136351	+	RNA	SNP	G	G	A	rs3731892	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr2:220136351G>A	ENST00000490341.1	+	0	821					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										CTGCAGAAAAGGTATACCACG	0.552													G|||	2516	0.502396	0.2428	0.5562	5008	,	,		20628	0.3145		0.8777	False		,,,				2504	0.6227					uc002vkv.1																			0					0						c.(655-657)AGG>AAG		RecName: Full=Putative tubulin-like protein alpha-4B; AltName: Full=Alpha-tubulin 4B;																																						80086							g.chr2:220136351G>A	AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136351G>A						TUBA4B_uc002vku.2_RNA	p.R219K	NR_003063						4	821	+									Missense_Mutation	SNP	ENST00000490341.1	37	c.656G>A																																																																																					0.552	TUBA4B-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000335637.1	NR_003063	
TUBA4B	80086	broad.mit.edu	37	2	220136371	220136371	+	RNA	SNP	T	T	C	rs3731894	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr2:220136371T>C	ENST00000490341.1	+	0	841					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										GAGCAGCTGTTGGTGGCAGAG	0.547													C|||	4394	0.877396	0.8306	0.8847	5008	,	,		21399	0.9534		0.9205	False		,,,				2504	0.8129					uc002vkv.1																			0					0						c.(676-678)TGG>CGG		RecName: Full=Putative tubulin-like protein alpha-4B; AltName: Full=Alpha-tubulin 4B;																																						80086							g.chr2:220136371T>C	AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136371T>C						TUBA4B_uc002vku.2_RNA	p.W226R	NR_003063						4	841	+									Missense_Mutation	SNP	ENST00000490341.1	37	c.676T>C																																																																																					0.547	TUBA4B-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000335637.1	NR_003063	
SPEG	10290	broad.mit.edu	37	2	220353375	220353375	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr2:220353375G>A	ENST00000312358.7	+	33	8146	c.8014G>A	c.(8014-8016)Gtg>Atg	p.V2672M	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2672	Ig-like 9.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCCTGTACCGTGGCTGTGGC	0.672																																						uc010fwg.2																			0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(8014-8016)GTG>ATG		SPEG complex locus							28.0	32.0	31.0					2																	220353375		1958	4143	6101	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220353375G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8014G>A	2.37:g.220353375G>A	ENSP00000311684:p.Val2672Met						p.V2672M	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	33	8014	+		Renal(207;0.0183)	2672			Ig-like 9.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.8014G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	9.803	1.181156	0.21787	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.76316	-1.01	4.37	1.33	0.21861	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.226336	0.22620	N	0.057704	T	0.70649	0.3248	M	0.67569	2.06	0.80722	D	1	P	0.48016	0.904	B	0.40565	0.333	T	0.68697	-0.5340	10	0.66056	D	0.02	.	6.4568	0.21934	0.2748:0.1807:0.5446:0.0	.	2672	Q15772	SPEG_HUMAN	M	2672	ENSP00000311684:V2672M	ENSP00000265327:V2672M	V	+	1	0	SPEG	220061619	0.006000	0.16342	0.998000	0.56505	0.998000	0.95712	0.123000	0.15708	0.459000	0.27016	0.563000	0.77884	GTG		0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
RTP5	285093	broad.mit.edu	37	2	242814085	242814085	+	Silent	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr2:242814085C>T	ENST00000343216.3	+	2	406	c.378C>T	c.(376-378)taC>taT	p.Y126Y		NM_173821.2	NP_776182.2																					AGGACTGCTACGGGGATGGCC	0.711																																						uc010fzu.1																			0				ovary(1)	1						c.(376-378)TAC>TAT		hypothetical protein LOC285093							8.0	10.0	9.0					2																	242814085		1905	4076	5981	SO:0001819	synonymous_variant	285093					integral to membrane		g.chr2:242814085C>T																												ENST00000343216.3:c.378C>T	2.37:g.242814085C>T							p.Y126Y	NM_173821	NP_776182	Q14D33	CB085_HUMAN			2	401	+			126						Silent	SNP	ENST00000343216.3	37	c.378C>T	CCDS42843.1																																																																																				0.711	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1		
DPPA4	55211	broad.mit.edu	37	3	109046838	109046838	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr3:109046838T>G	ENST00000335658.6	-	7	966	c.912A>C	c.(910-912)gaA>gaC	p.E304D	DPPA4_ENST00000478791.1_5'Flank	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	304					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGATATTCTATTCCCATTGGA	0.368																																						uc003dxq.3																			0				upper_aerodigestive_tract(1)	1						c.(910-912)GAA>GAC		developmental pluripotency associated 4							206.0	218.0	214.0					3																	109046838		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109046838T>G	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.912A>C	3.37:g.109046838T>G	ENSP00000335306:p.Glu304Asp					DPPA4_uc011bho.1_3'UTR	p.E304D	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			7	967	-			304					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.912A>C	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	T	7.227	0.598528	0.13939	.	.	ENSG00000121570	ENST00000335658	T	0.25085	1.82	3.38	-5.75	0.02384	.	2.157960	0.03146	N	0.167321	T	0.12603	0.0306	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13150	-1.0520	10	0.22706	T	0.39	.	0.667	0.00852	0.2764:0.1357:0.3164:0.2716	.	304	Q7L190	DPPA4_HUMAN	D	304	ENSP00000335306:E304D	ENSP00000335306:E304D	E	-	3	2	DPPA4	110529528	0.004000	0.15560	0.000000	0.03702	0.747000	0.42532	-0.634000	0.05477	-1.308000	0.02318	0.383000	0.25322	GAA		0.368	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189	
HCLS1	3059	broad.mit.edu	37	3	121356079	121356079	+	Missense_Mutation	SNP	C	C	T	rs142478875		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr3:121356079C>T	ENST00000314583.3	-	7	570	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	HCLS1_ENST00000428394.2_Intron|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	160					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CACCCCGTACCGGCCACCAAA	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19617	0.0		0.001	False		,,,				2504	0.0					uc003eeh.3																			0					0						c.(478-480)CGG>CAG		hematopoietic cell-specific Lyn substrate 1		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	134.0	118.0	124.0		479	5.2	1.0	3	dbSNP_134	124	0,8600		0,0,4300	yes	missense	HCLS1	NM_005335.4	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	160/487	121356079	1,13005	2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121356079C>T		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.479G>A	3.37:g.121356079C>T	ENSP00000320176:p.Arg160Gln					HCLS1_uc011bjj.1_Intron|HCLS1_uc011bjk.1_RNA	p.R160Q	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	7	604	-			160			Cortactin 3.		B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.479G>A	CCDS3003.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.39	3.612911	0.66672	2.27E-4	0.0	ENSG00000180353	ENST00000314583	T	0.21361	2.01	5.15	5.15	0.70609	.	0.231840	0.41294	D	0.000902	T	0.30978	0.0782	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	T	0.02190	-1.1198	10	0.54805	T	0.06	-3.0444	9.7121	0.40251	0.0:0.9051:0.0:0.0949	.	160	P14317	HCLS1_HUMAN	Q	160	ENSP00000320176:R160Q	ENSP00000320176:R160Q	R	-	2	0	HCLS1	122838769	1.000000	0.71417	0.998000	0.56505	0.734000	0.41952	3.700000	0.54786	2.398000	0.81561	0.655000	0.94253	CGG		0.557	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335	
U2SURP	23350	broad.mit.edu	37	3	142741859	142741859	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr3:142741859A>G	ENST00000473835.2	+	12	1273	c.1183A>G	c.(1183-1185)Aat>Gat	p.N395D	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.N394D	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	395	Pro-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AAAAAACCCTAATGCTCCTAT	0.418																																						uc003evh.1																			0					0						c.(1183-1185)AAT>GAT		U2-associated SR140 protein							41.0	38.0	39.0					3																	142741859		1868	4098	5966	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142741859A>G	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1183A>G	3.37:g.142741859A>G	ENSP00000418563:p.Asn395Asp					SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.N395D|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.N394D|SR140_uc003evl.1_5'Flank	p.N395D	NM_001080415	NP_001073884	O15042	SR140_HUMAN			12	1282	+			395			Pro-rich.		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.1183A>G	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.914269	0.33815	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	T;T	0.10192	2.9;2.9	5.93	5.93	0.95920	.	0.040254	0.85682	D	0.000000	T	0.12732	0.0309	L	0.38175	1.15	0.80722	D	1	P;P;P	0.37441	0.531;0.595;0.459	B;B;B	0.41646	0.093;0.362;0.199	T	0.17899	-1.0354	10	0.18710	T	0.47	-18.8655	16.3766	0.83401	1.0:0.0:0.0:0.0	.	395;394;395	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	D	395;395;394	ENSP00000418563:N395D;ENSP00000422011:N394D	ENSP00000322376:N395D	N	+	1	0	U2SURP	144224549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.730000	0.91510	2.263000	0.75096	0.533000	0.62120	AAT		0.418	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	
SLIT2	9353	broad.mit.edu	37	4	20544133	20544133	+	Silent	SNP	T	T	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr4:20544133T>C	ENST00000504154.1	+	21	2412	c.2160T>C	c.(2158-2160)agT>agC	p.S720S	SLIT2_ENST00000503823.1_Silent_p.S712S|SLIT2_ENST00000273739.5_Silent_p.S724S|SLIT2_ENST00000503837.1_Silent_p.S716S|SLIT2_ENST00000509394.2_3'UTR	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	720	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATGACAATAGTTGCTCCCCAC	0.413																																						uc003gpr.1																			0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(2158-2160)AGT>AGC		slit homolog 2 precursor							313.0	287.0	296.0					4																	20544133		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20544133T>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2160T>C	4.37:g.20544133T>C						SLIT2_uc003gps.1_Silent_p.S712S	p.S720S	NM_004787	NP_004778	O94813	SLIT2_HUMAN			21	2364	+			720			LRRNT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.2160T>C	CCDS3426.1																																																																																				0.413	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
PKD2	5311	broad.mit.edu	37	4	88973158	88973158	+	Missense_Mutation	SNP	A	A	G	rs374402854		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr4:88973158A>G	ENST00000237596.2	+	7	1630	c.1564A>G	c.(1564-1566)Ata>Gta	p.I522V	PKD2_ENST00000508588.1_5'UTR	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGTGGTAGCTATAGGAATTAA	0.323																																						uc003hre.2																			0				skin(1)	1						c.(1564-1566)ATA>GTA		polycystin 2							58.0	59.0	59.0					4																	88973158		2202	4300	6502	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88973158A>G	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1564A>G	4.37:g.88973158A>G	ENSP00000237596:p.Ile522Val					PKD2_uc011cdf.1_5'UTR|PKD2_uc011cdg.1_5'UTR|PKD2_uc011cdh.1_5'UTR	p.I522V	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	7	1630	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	522			Helical; (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1564A>G	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	A	1.568	-0.534844	0.04082	.	.	ENSG00000118762	ENST00000237596	T	0.69806	-0.43	5.33	2.88	0.33553	Polycystin cation channel, PKD1/PKD2 (1);	0.085474	0.85682	D	0.000000	T	0.45357	0.1338	N	0.16307	0.4	0.80722	D	1	B	0.06786	0.001	B	0.17098	0.017	T	0.15378	-1.0439	10	0.12103	T	0.63	-4.9045	9.9255	0.41489	0.8614:0.0:0.1386:0.0	.	522	Q13563	PKD2_HUMAN	V	522	ENSP00000237596:I522V	ENSP00000237596:I522V	I	+	1	0	PKD2	89192182	1.000000	0.71417	0.837000	0.33122	0.174000	0.22865	4.124000	0.57924	0.420000	0.25954	0.533000	0.62120	ATA		0.323	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297	
GPR98	84059	broad.mit.edu	37	5	90055389	90055389	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:90055389G>T	ENST00000405460.2	+	58	12200	c.12104G>T	c.(12103-12105)gGa>gTa	p.G4035V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4035	Calx-beta 27. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGTATTTGGATTTGAAGAA	0.368																																						uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(12103-12105)GGA>GTA		G protein-coupled receptor 98 precursor							123.0	115.0	117.0					5																	90055389		1952	4157	6109	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90055389G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12104G>T	5.37:g.90055389G>T	ENSP00000384582:p.Gly4035Val					GPR98_uc003kjt.2_Missense_Mutation_p.G1741V|GPR98_uc003kjv.2_Missense_Mutation_p.G1635V	p.G4035V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	58	12200	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4035			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.12104G>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.48|19.48	3.835470|3.835470	0.71373|0.71373	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.35048	.|1.33	5.06|5.06	5.06|5.06	0.68205|0.68205	.|Na-Ca exchanger/integrin-beta4 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61689|0.61689	0.2367|0.2367	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.996;0.997	T|T	0.65212|0.65212	-0.6223|-0.6223	5|10	.|0.72032	.|D	.|0.01	.|.	18.7882|18.7882	0.91963|0.91963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4035;4035	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	Y|V	1601|4035	.|ENSP00000384582:G4035V	.|ENSP00000296619:G4035V	D|G	+|+	1|2	0|0	GPR98|GPR98	90091145|90091145	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	6.901000|6.901000	0.75693|0.75693	2.521000|2.521000	0.84997|0.84997	0.563000|0.563000	0.77884|0.77884	GAT|GGA		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
ETF1	2107	broad.mit.edu	37	5	137846888	137846888	+	Splice_Site	SNP	T	T	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:137846888T>C	ENST00000360541.5	-	8	1085	c.864A>G	c.(862-864)ggA>ggG	p.G288G	ETF1_ENST00000499810.2_Splice_Site_p.G255G|ETF1_ENST00000503014.1_Splice_Site_p.G274G	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	288					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)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAAAGTATCGTCCTACGATTA	0.368																																						uc003ldc.3																			0				ovary(2)	2						c.(862-864)GGA>GGG		eukaryotic translation termination factor 1							76.0	75.0	75.0					5																	137846888		2203	4300	6503	SO:0001630	splice_region_variant	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137846888T>C	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.863-1A>G	5.37:g.137846888T>C						ETF1_uc011cyv.1_Silent_p.G274G|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Silent_p.G255G	p.G288G	NM_004730	NP_004721	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		8	1029	-			288					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Silent	SNP	ENST00000360541.5	37	c.864A>G	CCDS4207.1																																																																																				0.368	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730	Silent
PCDHB6	56130	broad.mit.edu	37	5	140530986	140530986	+	Missense_Mutation	SNP	T	T	C	rs142117819	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:140530986T>C	ENST00000231136.1	+	1	1148	c.1148T>C	c.(1147-1149)aTa>aCa	p.I383T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.I247T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	383	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTGTTCAATAGAGAACAAT	0.463													T|||	2	0.000399361	0.0	0.0	5008	,	,		19782	0.0		0.002	False		,,,				2504	0.0					uc003lir.2																			0				skin(1)	1						c.(1147-1149)ATA>ACA		protocadherin beta 6 precursor		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	129.0	127.0	128.0		1148	3.4	0.7	5	dbSNP_134	128	0,8600		0,0,4300	yes	missense	PCDHB6	NM_018939.2	89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	383/795	140530986	1,13005	2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530986T>C	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1148T>C	5.37:g.140530986T>C	ENSP00000231136:p.Ile383Thr					PCDHB6_uc011dah.1_Missense_Mutation_p.I247T	p.I383T	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1148	+			383			Cadherin 4.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1148T>C	CCDS4248.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	13.03	2.114637	0.37339	2.27E-4	0.0	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.59502	0.26;0.26	4.59	3.43	0.39272	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72479	0.3465	H	0.94964	3.605	0.09310	N	1	P	0.38535	0.635	P	0.44811	0.461	T	0.66968	-0.5789	9	0.87932	D	0	.	9.8815	0.41236	0.0:0.0814:0.0:0.9186	.	383	Q9Y5E3	PCDB6_HUMAN	T	247;383;168	ENSP00000438466:I247T;ENSP00000231136:I383T	ENSP00000231136:I383T	I	+	2	0	PCDHB6	140511170	0.681000	0.27614	0.721000	0.30653	0.584000	0.36387	4.622000	0.61240	0.723000	0.32274	0.459000	0.35465	ATA		0.463	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939	
PCDHB7	56129	broad.mit.edu	37	5	140554290	140554290	+	Missense_Mutation	SNP	G	G	A	rs544763939		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:140554290G>A	ENST00000231137.3	+	1	2048	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGGTGCGTACCGCCAGG	0.697													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20098	0.0		0.0	False		,,,				2504	0.0					uc003lit.2																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1873-1875)CGT>CAT		protocadherin beta 7 precursor							41.0	64.0	56.0					5																	140554290		2192	4286	6478	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554290G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1874G>A	5.37:g.140554290G>A	ENSP00000231137:p.Arg625His						p.R625H	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2048	+			625			Cadherin 6.|Extracellular (Potential).		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1874G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297906	0.60086	.	.	ENSG00000113212	ENST00000231137	T	0.52754	0.65	3.98	3.08	0.35506	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71264	0.3319	M	0.90759	3.145	0.31134	N	0.707366	D	0.89917	1.0	D	0.91635	0.999	T	0.72472	-0.4283	9	0.66056	D	0.02	.	10.1242	0.42639	0.1713:0.0:0.8287:0.0	.	625	Q9Y5E2	PCDB7_HUMAN	H	625	ENSP00000231137:R625H	ENSP00000231137:R625H	R	+	2	0	PCDHB7	140534474	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.031000	0.49728	1.922000	0.55676	0.449000	0.29647	CGT		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
TREML1	340205	broad.mit.edu	37	6	41121804	41121804	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr6:41121804G>A	ENST00000426005.2	-	2	111	c.68C>T	c.(67-69)cCt>cTt	p.P23L	TREML1_ENST00000373127.4_Missense_Mutation_p.P23L|TREML1_ENST00000437044.2_Intron	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	23	Ig-like V-type.				calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCACCTCAGGGAGGCTGCC	0.607																																						uc011duc.1																			0				breast(1)	1						c.(67-69)CCT>CTT		triggering receptor expressed on myeloid							29.0	31.0	31.0					6																	41121804		2203	4300	6503	SO:0001583	missense	340205				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity	g.chr6:41121804G>A	AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"""Immunoglobulin superfamily / V-set domain containing"""	20434	protein-coding gene	gene with protein product	"""TREM-like transcript 1"""	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.68C>T	6.37:g.41121804G>A	ENSP00000402855:p.Pro23Leu					TREML1_uc003opx.2_Missense_Mutation_p.P23L|TREML1_uc011dud.1_Intron	p.P23L	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN			2	112	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		23			Ig-like V-type.|Extracellular (Potential).		Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	37	c.68C>T	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647305	0.29246	.	.	ENSG00000161911	ENST00000373127;ENST00000426005	T;T	0.69685	-0.42;-0.42	5.97	3.12	0.35913	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.219331	0.32836	N	0.005588	T	0.66277	0.2773	M	0.69823	2.125	0.33461	D	0.585004	P;D	0.89917	0.711;1.0	B;D	0.80764	0.184;0.994	T	0.65417	-0.6173	10	0.35671	T	0.21	.	5.1143	0.14825	0.1696:0.0:0.664:0.1664	.	23;23	Q86YW5;Q86YW5-2	TRML1_HUMAN;.	L	23	ENSP00000362219:P23L;ENSP00000402855:P23L	ENSP00000362219:P23L	P	-	2	0	TREML1	41229782	0.601000	0.26907	0.423000	0.26634	0.009000	0.06853	1.587000	0.36622	1.542000	0.49330	-0.140000	0.14226	CCT		0.607	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174	
GFRAL	389400	broad.mit.edu	37	6	55196594	55196594	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr6:55196594C>T	ENST00000340465.2	+	2	190	c.104C>T	c.(103-105)gCa>gTa	p.A35V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	35					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTACGTGATGCAAATGGATGT	0.338																																						uc003pcm.1																			0				ovary(1)|breast(1)	2						c.(103-105)GCA>GTA		GDNF family receptor alpha like precursor							109.0	99.0	103.0					6																	55196594		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55196594C>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.104C>T	6.37:g.55196594C>T	ENSP00000343636:p.Ala35Val						p.A35V	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	190	+	Lung NSC(77;0.0875)|Renal(3;0.122)		35			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.104C>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	2.957	-0.215386	0.06101	.	.	ENSG00000187871	ENST00000340465	T	0.30714	1.52	4.92	-1.97	0.07503	GDNF/GAS1 (1);	1.602880	0.03279	N	0.185936	T	0.08088	0.0202	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17501	-1.0367	10	0.26408	T	0.33	-1.3993	0.8451	0.01159	0.152:0.251:0.2986:0.2985	.	35	Q6UXV0	GFRAL_HUMAN	V	35	ENSP00000343636:A35V	ENSP00000343636:A35V	A	+	2	0	GFRAL	55304553	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.031000	0.13710	-0.508000	0.06540	-0.518000	0.04402	GCA		0.338	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410	
BCLAF1	9774	broad.mit.edu	37	6	136599627	136599627	+	Missense_Mutation	SNP	C	C	T	rs149799182		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr6:136599627C>T	ENST00000531224.1	-	4	644	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R129Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R129Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R131Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R131Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R129Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	131					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R131P(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTATATGACCGGCGAGATCT	0.448																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(391-393)CGG>CAG		BCL2-associated transcription factor 1 isoform		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	189.0	202.0	198.0		386,392,392	5.6	1.0	6	dbSNP_134	198	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	129/870,131/748,131/921	136599627	1,13005	2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599627C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.392G>A	6.37:g.136599627C>T	ENSP00000435210:p.Arg131Gln					BCLAF1_uc003qgw.1_Missense_Mutation_p.R131Q|BCLAF1_uc003qgy.1_Missense_Mutation_p.R129Q|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R129Q	p.R131Q	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	645	-	Colorectal(23;0.24)		131					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.392G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938736	0.52972	0.0	1.16E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59	5.64	5.64	0.86602	.	0.213045	0.33346	N	0.005007	T	0.07007	0.0178	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.60575	0.976;0.988;0.976;0.976	B;P;B;B	0.48270	0.417;0.572;0.417;0.341	T	0.31724	-0.9933	10	0.30854	T	0.27	-4.8627	12.9743	0.58529	0.0:0.9259:0.0:0.074	.	129;129;131;131	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	Q	131;129;131;131;129;129;131	ENSP00000435210:R131Q;ENSP00000229446:R129Q;ENSP00000435441:R131Q;ENSP00000436501:R131Q;ENSP00000434826:R129Q;ENSP00000376159:R129Q;ENSP00000431734:R131Q	ENSP00000229446:R129Q	R	-	2	0	BCLAF1	136641320	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.673000	0.54591	2.660000	0.90430	0.557000	0.71058	CGG		0.448	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
USP42	84132	broad.mit.edu	37	7	6183728	6183728	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:6183728G>A	ENST00000306177.5	+	9	1049	c.891G>A	c.(889-891)atG>atA	p.M297I		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	297	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GTAAAAAGATGGTTCCAGCTT	0.333																																						uc011jwo.1																			0				skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(889-891)ATG>ATA		ubiquitin specific peptidase 42							131.0	119.0	123.0					7																	6183728		1831	4096	5927	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6183728G>A	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.891G>A	7.37:g.6183728G>A	ENSP00000301962:p.Met297Ile					USP42_uc011jwn.1_Missense_Mutation_p.M142I|USP42_uc010kth.1_Missense_Mutation_p.M230I|USP42_uc011jwp.1_Missense_Mutation_p.M297I|USP42_uc011jwq.1_Missense_Mutation_p.M104I|USP42_uc011jwr.1_Missense_Mutation_p.M142I	p.M297I	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	9	1014	+		Ovarian(82;0.0423)	297					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.891G>A	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733282	0.89482	.	.	ENSG00000106346	ENST00000306177;ENST00000465073;ENST00000426246	T;T;T	0.02682	4.2;4.2;4.2	5.28	5.28	0.74379	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.11707	0.0285	L	0.49640	1.575	0.50632	D	0.999885	D;D;D;D	0.67145	0.971;0.995;0.996;0.996	P;D;D;D	0.67548	0.853;0.92;0.952;0.952	T	0.01146	-1.1437	10	0.52906	T	0.07	.	18.5164	0.90937	0.0:0.0:1.0:0.0	.	260;297;297;297	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	I	297;230;143	ENSP00000301962:M297I;ENSP00000430568:M230I;ENSP00000408217:M143I	ENSP00000301962:M297I	M	+	3	0	USP42	6150254	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.350000	0.66016	2.457000	0.83068	0.563000	0.77884	ATG		0.333	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
URGCP	55665	broad.mit.edu	37	7	43917037	43917037	+	Silent	SNP	G	G	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43917037G>C	ENST00000453200.1	-	6	2518	c.2025C>G	c.(2023-2025)gtC>gtG	p.V675V	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Silent_p.V632V|URGCP_ENST00000336086.6_Silent_p.V632V|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Silent_p.V632V|URGCP_ENST00000223341.7_Silent_p.V632V|URGCP_ENST00000402306.3_Silent_p.V666V			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	675					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAGCCCTGTGACCCAGCGGA	0.642																																						uc003tiw.2																			0				ovary(2)|liver(1)|skin(1)	4						c.(2023-2025)GTC>GTG		up-regulated gene 4 isoform 3							30.0	33.0	32.0					7																	43917037		2121	4230	6351	SO:0001819	synonymous_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917037G>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2025C>G	7.37:g.43917037G>C						URGCP_uc003tiu.2_Silent_p.V632V|URGCP_uc003tiv.2_Silent_p.V600V|URGCP_uc003tix.2_Silent_p.V666V|URGCP_uc003tiy.2_Silent_p.V632V|URGCP_uc003tiz.2_Silent_p.V632V|URGCP_uc011kbj.1_Silent_p.V632V	p.V675V	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	2082	-			675					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	c.2025C>G	CCDS47578.1																																																																																				0.642	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664	
URGCP	55665	broad.mit.edu	37	7	43917123	43917123	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43917123G>T	ENST00000453200.1	-	6	2432	c.1939C>A	c.(1939-1941)Cca>Aca	p.P647T	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.P604T|URGCP_ENST00000336086.6_Missense_Mutation_p.P604T|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.P604T|URGCP_ENST00000223341.7_Missense_Mutation_p.P604T|URGCP_ENST00000402306.3_Missense_Mutation_p.P638T			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	647					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCAAGCCTGGGAAGTGGGCA	0.622																																						uc003tiw.2																			0				ovary(2)|liver(1)|skin(1)	4						c.(1939-1941)CCA>ACA		up-regulated gene 4 isoform 3							27.0	32.0	30.0					7																	43917123		2088	4219	6307	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917123G>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1939C>A	7.37:g.43917123G>T	ENSP00000396918:p.Pro647Thr					URGCP_uc003tiu.2_Missense_Mutation_p.P604T|URGCP_uc003tiv.2_Missense_Mutation_p.P572T|URGCP_uc003tix.2_Missense_Mutation_p.P638T|URGCP_uc003tiy.2_Missense_Mutation_p.P604T|URGCP_uc003tiz.2_Missense_Mutation_p.P604T|URGCP_uc011kbj.1_Missense_Mutation_p.P604T	p.P647T	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	1996	-			647					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1939C>A	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606300	0.66445	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.23950	1.92;1.92;1.88;1.92;1.88;1.92	5.79	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	M	0.83774	2.66	0.36269	D	0.855064	D;D	0.69078	0.997;0.997	D;D	0.68192	0.956;0.956	T	0.66268	-0.5966	10	0.87932	D	0	-18.6216	16.063	0.80852	0.0:0.1462:0.8538:0.0	.	638;647	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	T	604;604;638;604;647;604	ENSP00000223341:P604T;ENSP00000336872:P604T;ENSP00000384955:P638T;ENSP00000392136:P604T;ENSP00000396918:P647T;ENSP00000402803:P604T	ENSP00000223341:P604T	P	-	1	0	URGCP	43883648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.003000	0.70701	2.735000	0.93741	0.655000	0.94253	CCA		0.622	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664	
URGCP	55665	broad.mit.edu	37	7	43918034	43918034	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43918034G>C	ENST00000453200.1	-	6	1521	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.S300C|URGCP_ENST00000336086.6_Missense_Mutation_p.S300C|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.S300C|URGCP_ENST00000223341.7_Missense_Mutation_p.S300C|URGCP_ENST00000402306.3_Missense_Mutation_p.S334C			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	343					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCCAGTGAGACCCGATGTC	0.458																																						uc003tiw.2																			0				ovary(2)|liver(1)|skin(1)	4						c.(1027-1029)TCT>TGT		up-regulated gene 4 isoform 3							78.0	79.0	79.0					7																	43918034		1917	4134	6051	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918034G>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1028C>G	7.37:g.43918034G>C	ENSP00000396918:p.Ser343Cys					URGCP_uc003tiu.2_Missense_Mutation_p.S300C|URGCP_uc003tiv.2_Missense_Mutation_p.S268C|URGCP_uc003tix.2_Missense_Mutation_p.S334C|URGCP_uc003tiy.2_Missense_Mutation_p.S300C|URGCP_uc003tiz.2_Missense_Mutation_p.S300C|URGCP_uc011kbj.1_Missense_Mutation_p.S300C	p.S343C	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	1085	-			343					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1028C>G	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857462	0.51376	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.11712	2.76;2.76;2.75;2.76;2.75;2.76	5.66	4.76	0.60689	.	0.275583	0.35805	N	0.002979	T	0.30854	0.0778	M	0.71581	2.175	0.09310	N	0.999992	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.03000	-1.1084	10	0.72032	D	0.01	-21.899	13.8058	0.63230	0.0:0.191:0.809:0.0	.	334;343	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	C	300;300;334;300;343;300	ENSP00000223341:S300C;ENSP00000336872:S300C;ENSP00000384955:S334C;ENSP00000392136:S300C;ENSP00000396918:S343C;ENSP00000402803:S300C	ENSP00000223341:S300C	S	-	2	0	URGCP	43884559	0.545000	0.26449	1.000000	0.80357	0.996000	0.88848	2.019000	0.41001	2.673000	0.90976	0.591000	0.81541	TCT		0.458	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664	
URGCP	55665	broad.mit.edu	37	7	43918768	43918768	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43918768G>C	ENST00000453200.1	-	6	787	c.294C>G	c.(292-294)atC>atG	p.I98M	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.I55M|URGCP_ENST00000336086.6_Missense_Mutation_p.I55M|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.I55M|URGCP_ENST00000223341.7_Missense_Mutation_p.I55M|URGCP_ENST00000402306.3_Missense_Mutation_p.I89M			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	98					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTCAAAACTGATCTGCAGAG	0.507																																						uc003tiw.2																			0				ovary(2)|liver(1)|skin(1)	4						c.(292-294)ATC>ATG		up-regulated gene 4 isoform 3							54.0	57.0	56.0					7																	43918768		1899	4130	6029	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918768G>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.294C>G	7.37:g.43918768G>C	ENSP00000396918:p.Ile98Met					URGCP_uc003tiu.2_Missense_Mutation_p.I55M|URGCP_uc003tiv.2_Missense_Mutation_p.I23M|URGCP_uc003tix.2_Missense_Mutation_p.I89M|URGCP_uc003tiy.2_Missense_Mutation_p.I55M|URGCP_uc003tiz.2_Missense_Mutation_p.I55M|URGCP_uc011kbj.1_Missense_Mutation_p.I55M	p.I98M	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	351	-			98					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.294C>G	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357493	0.41801	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717;ENST00000426198;ENST00000455877	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.6	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	M	0.77313	2.365	0.29584	N	0.848935	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.56329	-0.7997	10	0.87932	D	0	-33.5955	4.7442	0.13029	0.1589:0.0:0.5345:0.3066	.	89;98	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	M	55;55;89;55;98;55;55;55	ENSP00000223341:I55M;ENSP00000336872:I55M;ENSP00000384955:I89M;ENSP00000392136:I55M;ENSP00000396918:I98M;ENSP00000402803:I55M;ENSP00000389990:I55M	ENSP00000223341:I55M	I	-	3	3	URGCP	43885293	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	1.850000	0.39328	0.306000	0.22856	-1.014000	0.02459	ATC		0.507	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664	
EGFR	1956	broad.mit.edu	37	7	55224307	55224307	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:55224307C>T	ENST00000275493.2	+	9	1265	c.1088C>T	c.(1087-1089)aCc>aTc	p.T363I	EGFR_ENST00000344576.2_Missense_Mutation_p.T363I|EGFR_ENST00000342916.3_Missense_Mutation_p.T363I|EGFR_ENST00000420316.2_Missense_Mutation_p.T363I|EGFR_ENST00000455089.1_Missense_Mutation_p.T318I|EGFR_ENST00000454757.2_Missense_Mutation_p.T310I|EGFR_ENST00000442591.1_Missense_Mutation_p.T363I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	363					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAAAACTGCACCTCCATCAGT	0.413		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1087-1089)ACC>ATC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						85.0	87.0	86.0					7																	55224307		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55224307C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1088C>T	7.37:g.55224307C>T	ENSP00000275493:p.Thr363Ile	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.T363I|EGFR_uc003tqi.2_Missense_Mutation_p.T363I|EGFR_uc003tqj.2_Missense_Mutation_p.T363I|EGFR_uc010kzg.1_Missense_Mutation_p.T318I|EGFR_uc011kco.1_Missense_Mutation_p.T310I|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	p.T363I	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		9	1334	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		363			Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1088C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	33	5.212356	0.95069	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;T;D;D;D	0.82526	-1.62;-1.62;-1.62;0.61;-1.62;-1.62;-1.62	5.95	5.95	0.96441	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	H	0.94734	3.575	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.994;0.997;0.993;0.971	D	0.94902	0.8057	10	0.87932	D	0	.	18.9492	0.92635	0.0:1.0:0.0:0.0	.	318;363;363;363;363	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	I	318;363;233;363;363;363;363;310;157	ENSP00000415559:T318I;ENSP00000342376:T363I;ENSP00000345973:T363I;ENSP00000413843:T363I;ENSP00000275493:T363I;ENSP00000410031:T363I;ENSP00000395243:T310I	ENSP00000275493:T363I	T	+	2	0	EGFR	55191801	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	7.586000	0.82596	2.825000	0.97269	0.655000	0.94253	ACC		0.413	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
NCF1	653361	broad.mit.edu	37	7	74193497	74193497	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:74193497C>T	ENST00000289473.4	+	3	293	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	75	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	CATCCCCCACCTCCCAGGTGA	0.552																																						uc003ubb.2																			0				skin(1)	1						c.(223-225)CTC>TTC		neutrophil cytosolic factor 1							1.0	1.0	1.0					7																	74193497		920	1695	2615	SO:0001583	missense	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74193497C>T	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.223C>T	7.37:g.74193497C>T	ENSP00000289473:p.Leu75Phe					NCF1_uc010lbs.1_Missense_Mutation_p.L75F|NCF1_uc011kfh.1_Intron	p.L75F	NM_000265	NP_000256	P14598	NCF1_HUMAN			3	293	+			75			PX.		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	ENST00000289473.4	37	c.223C>T	CCDS34657.1	.	.	.	.	.	.	.	.	.	.	c	14.75	2.629625	0.46944	.	.	ENSG00000158517	ENST00000289473;ENST00000433458;ENST00000442021	T;T;T	0.74632	-0.86;-0.86;-0.86	3.43	2.45	0.29901	Phox homologous domain (5);	0.077589	0.52532	D	0.000064	T	0.81837	0.4907	M	0.77616	2.38	0.50313	D	0.999866	D;D	0.76494	0.985;0.999	P;D	0.73380	0.811;0.98	T	0.80574	-0.1322	10	0.49607	T	0.09	-21.853	5.8738	0.18819	0.1931:0.6827:0.0:0.1242	.	75;75	P14598-2;P14598	.;NCF1_HUMAN	F	75;75;82	ENSP00000289473:L75F;ENSP00000392870:L75F;ENSP00000401935:L82F	ENSP00000289473:L75F	L	+	1	0	NCF1	73831433	0.989000	0.36119	1.000000	0.80357	0.763000	0.43281	0.872000	0.28037	1.650000	0.50662	0.442000	0.29010	CTC		0.552	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265	
TRIM4	89122	broad.mit.edu	37	7	99516656	99516656	+	Silent	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:99516656G>A	ENST00000355947.2	-	1	498	c.369C>T	c.(367-369)atC>atT	p.I123I	TRIM4_ENST00000354241.5_Silent_p.I123I|TRIM4_ENST00000349062.2_Silent_p.I123I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	123					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGCCTCGTCGATGGGTGCCA	0.612																																						uc003usd.2																			0				ovary(1)|kidney(1)	2						c.(367-369)ATC>ATT		tripartite motif protein TRIM4 isoform alpha							13.0	13.0	13.0					7																	99516656		2104	4060	6164	SO:0001819	synonymous_variant	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99516656G>A	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.369C>T	7.37:g.99516656G>A						TRIM4_uc003use.2_Silent_p.I123I|TRIM4_uc011kjc.1_5'UTR|TRIM4_uc003usf.2_Silent_p.I123I	p.I123I	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN			1	499	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	123			B box-type.		A4D298|Q75MK1|Q96F06|Q9C036	Silent	SNP	ENST00000355947.2	37	c.369C>T	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	G	6.921	0.539555	0.13250	.	.	ENSG00000146833	ENST00000447480	.	.	.	2.14	1.19	0.21007	.	.	.	.	.	.	.	.	.	.	.	0.29523	N	0.853389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2624	0.06853	0.1673:0.2861:0.5465:0.0	.	.	.	.	X	25	.	.	R	-	1	2	TRIM4	99354592	0.002000	0.14202	0.648000	0.29521	0.524000	0.34500	-0.604000	0.05667	0.431000	0.26258	0.455000	0.32223	CGA		0.612	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017	
LHFPL3	375612	broad.mit.edu	37	7	103969236	103969237	+	In_Frame_Ins	INS	-	-	GCC	rs534523702	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:103969236_103969237insGCC	ENST00000535008.1	+	1	133_134	c.9_10insGCC	c.(10-12)gcc>GCCgcc	p.4_4A>AA	LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000543266.1_In_Frame_Ins_p.4_4A>AA|LHFPL3_ENST00000424859.1_5'UTR			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	4						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						gAATGCCCGGAgccgccgccgc	0.728														48	0.00958466	0.034	0.0014	5008	,	,		10328	0.002		0.0	False		,,,				2504	0.0					uc003vce.2																			0					0						c.(7-12)insGCC		lipoma HMGIC fusion partner-like 3																																				SO:0001652	inframe_insertion	375612					integral to membrane		g.chr7:103969236_103969237insGCC	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.16_18dupGCC	7.37:g.103969243_103969245dupGCC	ENSP00000444350:p.Ala14dup					LHFPL3_uc003vcf.2_In_Frame_Ins_p.14_15insA	p.14_15insA	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN			1	133_134	+			Error:Variant_position_missing_in_Q86UP9_after_alignment_1					A1L383|A4D0Q5	In_Frame_Ins	INS	ENST00000535008.1	37	c.9_10insGCC																																																																																					0.728	LHFPL3-201	KNOWN	basic	protein_coding	protein_coding		NM_199000	
PIK3CG	5294	broad.mit.edu	37	7	106508126	106508126	+	Silent	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:106508126C>T	ENST00000359195.3	+	2	430	c.120C>T	c.(118-120)atC>atT	p.I40I	PIK3CG_ENST00000440650.2_Silent_p.I40I|PIK3CG_ENST00000496166.1_Silent_p.I40I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	40	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCATCCCCATCGAGTTCGTGC	0.662																																						uc003vdv.3																			0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(118-120)ATC>ATT		phosphoinositide-3-kinase, catalytic, gamma							39.0	44.0	43.0					7																	106508126		2202	4299	6501	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508126C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.120C>T	7.37:g.106508126C>T						PIK3CG_uc003vdu.2_Silent_p.I40I|PIK3CG_uc003vdw.2_Silent_p.I40I	p.I40I	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	205	+			40					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.120C>T	CCDS5739.1																																																																																				0.662	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
C7orf66	154907	broad.mit.edu	37	7	108524126	108524126	+	Missense_Mutation	SNP	G	G	A	rs143724624		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:108524126G>A	ENST00000379007.2	-	2	340	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	96						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TGGACAATCCGTAGATATGCA	0.348																																						uc003vfo.2																			0				ovary(2)	2						c.(286-288)CGG>TGG		hypothetical protein LOC154907			TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	168.0	148.0	154.0		286	-6.3	0.0	7	dbSNP_134	154	0,8600		0,0,4300	no	missense	C7orf66	NM_001024607.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	96/116	108524126	1,13005	2203	4300	6503	SO:0001583	missense	154907					integral to membrane		g.chr7:108524126G>A	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.286C>T	7.37:g.108524126G>A	ENSP00000368292:p.Arg96Trp						p.R96W	NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN			2	334	-			96						Missense_Mutation	SNP	ENST00000379007.2	37	c.286C>T	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	g	10.54	1.378512	0.24944	2.27E-4	0.0	ENSG00000205174	ENST00000379007	.	.	.	3.62	-6.34	0.01982	.	.	.	.	.	T	0.11410	0.0278	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	B	0.40636	0.335	T	0.22208	-1.0223	7	.	.	.	.	6.9306	0.24439	0.0:0.1635:0.2491:0.5874	.	96	A4D0T2	CG066_HUMAN	W	96	.	.	R	-	1	2	C7orf66	108311362	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.574000	0.05868	-1.644000	0.01517	-0.248000	0.11899	CGG		0.348	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607	
GPR37	2861	broad.mit.edu	37	7	124387325	124387325	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:124387325C>T	ENST00000303921.2	-	2	1746	c.1096G>A	c.(1096-1098)Gta>Ata	p.V366I		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	366					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACATCTGTACGTTGGTGGCA	0.463																																						uc003vli.2																			0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1096-1098)GTA>ATA		G protein-coupled receptor 37 precursor							77.0	75.0	76.0					7																	124387325		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124387325C>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1096G>A	7.37:g.124387325C>T	ENSP00000306449:p.Val366Ile						p.V366I	NM_005302	NP_005293	O15354	GPR37_HUMAN			2	1747	-			366			Cytoplasmic (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1096G>A	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657541	0.88154	.	.	ENSG00000170775	ENST00000303921	T	0.37235	1.21	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	T	0.53481	0.1799	L	0.53249	1.67	0.58432	D	0.999999	D	0.65815	0.995	P	0.59825	0.864	T	0.46925	-0.9156	10	0.46703	T	0.11	-19.9936	18.9218	0.92528	0.0:1.0:0.0:0.0	.	366	O15354	GPR37_HUMAN	I	366	ENSP00000306449:V366I	ENSP00000306449:V366I	V	-	1	0	GPR37	124174561	1.000000	0.71417	0.956000	0.39512	0.753000	0.42808	7.818000	0.86416	2.717000	0.92951	0.563000	0.77884	GTA		0.463	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
AKR1B10	57016	broad.mit.edu	37	7	134212671	134212671	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:134212671C>T	ENST00000359579.4	+	1	328	c.8C>T	c.(7-9)aCg>aTg	p.T3M	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	3					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ACCATGGCCACGTTTGTGGAG	0.502																																						uc003vrr.2																			0				skin(5)	5						c.(7-9)ACG>ATG		aldo-keto reductase family 1, member B10							131.0	115.0	120.0					7																	134212671		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134212671C>T	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.8C>T	7.37:g.134212671C>T	ENSP00000352584:p.Thr3Met						p.T3M	NM_020299	NP_064695	O60218	AK1BA_HUMAN			1	328	+			3					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.8C>T	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539614	0.27563	.	.	ENSG00000198074	ENST00000359579	T	0.33865	1.39	4.3	1.35	0.21983	NADP-dependent oxidoreductase domain (2);	0.303367	0.34484	N	0.003933	T	0.31358	0.0794	L	0.38175	1.15	0.09310	N	1	D	0.61697	0.99	P	0.48454	0.578	T	0.15723	-1.0427	10	0.62326	D	0.03	.	8.1641	0.31215	0.3213:0.5236:0.1551:0.0	.	3	O60218	AK1BA_HUMAN	M	3	ENSP00000352584:T3M	ENSP00000352584:T3M	T	+	2	0	AKR1B10	133863211	0.000000	0.05858	0.004000	0.12327	0.352000	0.29268	0.007000	0.13174	0.038000	0.15604	-0.335000	0.08231	ACG		0.502	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299	
EBF2	64641	broad.mit.edu	37	8	25718712	25718712	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr8:25718712C>A	ENST00000520164.1	-	13	1732	c.1195G>T	c.(1195-1197)Gct>Tct	p.A399S	EBF2_ENST00000408929.3_Missense_Mutation_p.A251S|EBF2_ENST00000535548.1_Missense_Mutation_p.A130S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	399					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGAGCTTCAGCAATGTCTGCG	0.493																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1																			0				ovary(3)|skin(1)	4						c.(1195-1197)GCT>TCT		early B-cell factor 2							113.0	121.0	118.0					8																	25718712		2023	4179	6202	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25718712C>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1195G>T	8.37:g.25718712C>A	ENSP00000430241:p.Ala399Ser					PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	p.A399S	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	13	1212	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	399					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.1195G>T	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410100	0.83340	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.41758	0.99;0.99;0.99	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	M	0.83953	2.67	0.80722	D	1	B	0.34214	0.442	B	0.38803	0.282	T	0.57854	-0.7739	10	0.42905	T	0.14	-1.5021	18.9368	0.92589	0.0:1.0:0.0:0.0	.	399	Q9HAK2	COE2_HUMAN	S	399;251;130	ENSP00000430241:A399S;ENSP00000386178:A251S;ENSP00000437909:A130S	ENSP00000386178:A251S	A	-	1	0	EBF2	25774629	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	6.070000	0.71220	2.476000	0.83614	0.655000	0.94253	GCT		0.493	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659	
LY96	23643	broad.mit.edu	37	8	74922304	74922304	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr8:74922304A>G	ENST00000284818.2	+	3	362	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	LY96_ENST00000518893.1_Missense_Mutation_p.K61E	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	91					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TCCAAAGCGCAAAGAAGTTAT	0.343																																					GBM(131;1357 1748 34893 50149 52212)	uc003yad.2																			0					0						c.(271-273)AAA>GAA		MD-2 protein precursor							100.0	97.0	98.0					8																	74922304		2203	4300	6503	SO:0001583	missense	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74922304A>G	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.271A>G	8.37:g.74922304A>G	ENSP00000284818:p.Lys91Glu						p.K91E	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		3	362	+	Breast(64;0.0311)		91					B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	c.271A>G	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.363797	0.61513	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.74526	-0.85;-0.85	4.66	3.46	0.39613	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.189872	0.36778	N	0.002402	D	0.83889	0.5352	M	0.80028	2.48	0.31118	N	0.709176	D	0.76494	0.999	D	0.79108	0.992	T	0.82623	-0.0366	10	0.66056	D	0.02	.	8.2547	0.31748	0.798:0.202:0.0:0.0	.	91	Q9Y6Y9	LY96_HUMAN	E	91;61	ENSP00000284818:K91E;ENSP00000430533:K61E	ENSP00000284818:K91E	K	+	1	0	LY96	75084858	0.912000	0.30974	0.760000	0.31359	0.882000	0.50991	1.237000	0.32695	0.874000	0.35823	0.482000	0.46254	AAA		0.343	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364	
TAF2	6873	broad.mit.edu	37	8	120831592	120831592	+	Nonsense_Mutation	SNP	G	G	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr8:120831592G>C	ENST00000378164.2	-	3	591	c.293C>G	c.(292-294)tCa>tGa	p.S98*		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	98					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTACTGTTTTGATTCACTGTG	0.289																																						uc003you.2																			0				large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(292-294)TCA>TGA		TBP-associated factor 2							144.0	155.0	151.0					8																	120831592		2202	4300	6502	SO:0001587	stop_gained	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120831592G>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.293C>G	8.37:g.120831592G>C	ENSP00000367406:p.Ser98*						p.S98*	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		3	563	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		98					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Nonsense_Mutation	SNP	ENST00000378164.2	37	c.293C>G	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	G	39	7.302752	0.98200	.	.	ENSG00000064313	ENST00000378164	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-27.3058	19.335	0.94312	0.0:0.0:1.0:0.0	.	.	.	.	X	98	.	ENSP00000367406:S98X	S	-	2	0	TAF2	120900773	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.659000	0.83766	2.585000	0.87301	0.650000	0.86243	TCA		0.289	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	
C9orf131	138724	broad.mit.edu	37	9	35045372	35045372	+	Missense_Mutation	SNP	C	C	G	rs3739871	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr9:35045372C>G	ENST00000312292.5	+	2	2793	c.2746C>G	c.(2746-2748)Cca>Gca	p.P916A	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.P868A|C9orf131_ENST00000354479.5_Missense_Mutation_p.P843A	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	916			P -> S (in dbSNP:rs3739871).							cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTATCTATCTCCAGGCCCAGG	0.537																																						uc003zvw.2																			0					0						c.(2746-2748)CCA>GCA		hypothetical protein LOC138724 isoform A							147.0	148.0	147.0					9																	35045372		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35045372C>G	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2746C>G	9.37:g.35045372C>G	ENSP00000308279:p.Pro916Ala					C9orf131_uc003zvu.2_Missense_Mutation_p.P868A|C9orf131_uc003zvv.2_Missense_Mutation_p.P843A|C9orf131_uc003zvx.2_Missense_Mutation_p.P881A	p.P916A	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2775	+	all_epithelial(49;0.22)		916					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2746C>G	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	9.072	0.997153	0.19043	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.14266	2.52;2.52;2.52	4.11	-0.3	0.12804	.	1.472120	0.04188	N	0.327794	T	0.11623	0.0283	L	0.42245	1.32	0.09310	N	1	B;B;B;B	0.29552	0.103;0.103;0.248;0.248	B;B;B;B	0.25140	0.058;0.058;0.058;0.058	T	0.31888	-0.9927	10	0.46703	T	0.11	.	3.5446	0.07824	0.0:0.4505:0.1947:0.3549	.	391;916;843;868	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	A	868;843;916;391	ENSP00000393683:P868A;ENSP00000346472:P843A;ENSP00000308279:P916A	ENSP00000308279:P916A	P	+	1	0	C9orf131	35035372	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.403000	0.07214	0.130000	0.18549	0.563000	0.77884	CCA		0.537	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
