#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MEGF6	1953	broad.mit.edu	37	1	3418372	3418372	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:3418372C>A	ENST00000356575.4	-	18	2528	c.2302G>T	c.(2302-2304)Gac>Tac	p.D768Y	MEGF6_ENST00000294599.4_Missense_Mutation_p.D663Y	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	768	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCTCACAGTCTTCCCCAGTC	0.711																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2302-2304)Gac>Tac		multiple EGF-like-domains 6							23.0	32.0	29.0					1																	3418372		2016	4159	6175	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3418372C>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2302G>T	1.37:g.3418372C>A	ENSP00000348982:p.Asp768Tyr					MEGF6_ENST00000294599.4_Missense_Mutation_p.D663Y	p.D768Y	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	18	2528	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	768			EGF-like 12.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.2302G>T	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	5.945	0.358315	0.11239	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.63417	-0.04;-0.04	3.58	3.58	0.41010	EGF-like, laminin (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.453467	0.22657	U	0.057252	T	0.60881	0.2303	L	0.39898	1.24	0.22866	N	0.998638	P;D	0.53151	0.93;0.958	P;P	0.54544	0.598;0.755	T	0.49881	-0.8892	10	0.32370	T	0.25	-33.53	8.7919	0.34857	0.0:0.8911:0.0:0.1089	.	768;663	O75095;O75095-2	MEGF6_HUMAN;.	Y	663;768	ENSP00000294599:D663Y;ENSP00000348982:D768Y	ENSP00000294599:D663Y	D	-	1	0	MEGF6	3408232	0.021000	0.18746	0.826000	0.32828	0.013000	0.08279	1.724000	0.38064	1.686000	0.51046	0.455000	0.32223	GAC		0.711	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		12	22	1	0	6.40141e-05	1	6.90348e-05	12	22				
KIF2B	84643	broad.mit.edu	37	17	51901710	51901710	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:51901710T>G	ENST00000268919.4	+	1	1472	c.1316T>G	c.(1315-1317)aTg>aGg	p.M439R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	439	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGACGGATAATGCATGGCAAG	0.507																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1315-1317)aTg>aGg		kinesin family member 2B							70.0	59.0	63.0					17																	51901710		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901710T>G	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1316T>G	17.37:g.51901710T>G	ENSP00000268919:p.Met439Arg						p.M439R	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1472	+			439			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1316T>G	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634678	0.29068	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74209	-0.82	5.73	5.73	0.89815	Kinesin, motor domain (4);	0.471047	0.15550	N	0.256472	T	0.53417	0.1795	N	0.02357	-0.585	0.34580	D	0.714407	B	0.02656	0.0	B	0.01281	0.0	T	0.59397	-0.7462	10	0.44086	T	0.13	.	15.5002	0.75691	0.0:0.0:0.0:1.0	.	439	Q8N4N8	KIF2B_HUMAN	R	439;327	ENSP00000268919:M439R	ENSP00000268919:M439R	M	+	2	0	KIF2B	49256709	1.000000	0.71417	0.692000	0.30179	0.142000	0.21351	6.234000	0.72326	2.302000	0.77476	0.533000	0.62120	ATG		0.507	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		10	42	0	0	0	1	0	10	42				
OR10A6	390093	broad.mit.edu	37	11	7950117	7950117	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr11:7950117G>A	ENST00000309838.2	-	1	92	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAATAACCAGGAAAGCCACAA	0.448																																						ENST00000309838.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(91-93)ttC>ttT		olfactory receptor, family 10, subfamily A, member 6							71.0	73.0	72.0					11																	7950117		2201	4296	6497	SO:0001819	synonymous_variant	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7950117G>A	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.93C>T	11.37:g.7950117G>A							p.F31F	NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	92	-			31					Q6IF59	Silent	SNP	ENST00000309838.2	37	c.93C>T	CCDS31420.1																																																																																				0.448	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		86	26	0	0	0	1	0	86	26				
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G	rs575896136	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10.0	15.0	14.0					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	36	0	0	0	1	0	3	36				
PPFIA2	8499	broad.mit.edu	37	12	81657012	81657012	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:81657012T>A	ENST00000549396.1	-	31	3873	c.3713A>T	c.(3712-3714)gAt>gTt	p.D1238V	PPFIA2_ENST00000550359.2_Missense_Mutation_p.D1085V|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D1137V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D1223V|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D1217V|PPFIA2_ENST00000550584.2_Missense_Mutation_p.D1238V|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D1226V|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D1232V|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D774V|PPFIA2_ENST00000541017.1_Missense_Mutation_p.D424V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D1133V|PPFIA2_ENST00000545296.2_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1238					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TACTGTACCATCTGTTGTCAT	0.398																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(3712-3714)gAt>gTt		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							109.0	100.0	103.0					12																	81657012		1898	4132	6030	SO:0001583	missense	8499							g.chr12:81657012T>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3713A>T	12.37:g.81657012T>A	ENSP00000450337:p.Asp1238Val					PPFIA2_ENST00000548586.1_Missense_Mutation_p.D1232V|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D774V|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D1238V|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D1085V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D1133V|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Missense_Mutation_p.D424V|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D1137V|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D1217V|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D1226V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D1223V	p.D1238V	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			30	4008	-			1137					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3713A>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.959155	0.53400	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.33438	2.16;2.07;1.77;1.41;1.83;2.08;2.16;1.84;2.16	5.08	5.08	0.68730	.	0.117723	0.56097	D	0.000031	T	0.26810	0.0656	L	0.34521	1.04	0.80722	D	1	B	0.28713	0.22	B	0.28139	0.086	T	0.08680	-1.0710	10	0.87932	D	0	-15.4729	14.8422	0.70233	0.0:0.0:0.0:1.0	.	1238	O75334	LIPA2_HUMAN	V	1238;1223;774;424;1137;1251;1226;1232;1133;1217	ENSP00000450337:D1238V;ENSP00000450298:D1223V;ENSP00000438337:D774V;ENSP00000445532:D424V;ENSP00000385093:D1137V;ENSP00000327416:D1226V;ENSP00000449338:D1232V;ENSP00000388373:D1133V;ENSP00000447868:D1217V	ENSP00000327416:D1226V	D	-	2	0	PPFIA2	80181143	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.610000	0.82949	1.923000	0.55706	0.528000	0.53228	GAT		0.398	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			3	5	0	0	0	1	0	3	5				
KDM6B	23135	broad.mit.edu	37	17	7751444	7751444	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:7751444C>T	ENST00000448097.2	+	11	2169	c.1838C>T	c.(1837-1839)tCc>tTc	p.S613F	KDM6B_ENST00000254846.5_Missense_Mutation_p.S613F			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	613	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCTCCTTCCTCCTGCCACCAA	0.677																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(1837-1839)tCc>tTc		lysine (K)-specific demethylase 6B							27.0	37.0	33.0					17																	7751444		2180	4265	6445	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751444C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1838C>T	17.37:g.7751444C>T	ENSP00000412513:p.Ser613Phe					KDM6B_ENST00000448097.2_Missense_Mutation_p.S613F	p.S613F	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2227	+			613			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1838C>T		.	.	.	.	.	.	.	.	.	.	C	10.38	1.333481	0.24167	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.12774	2.65;2.65	4.36	4.36	0.52297	.	0.125717	0.34853	N	0.003636	T	0.13500	0.0327	N	0.14661	0.345	0.27194	N	0.960343	P	0.49090	0.919	P	0.49276	0.605	T	0.04961	-1.0915	10	0.87932	D	0	-17.7918	14.7714	0.69681	0.0:1.0:0.0:0.0	.	613	O15054-1	.	F	613	ENSP00000254846:S613F;ENSP00000412513:S613F	ENSP00000254846:S613F	S	+	2	0	KDM6B	7692169	0.993000	0.37304	1.000000	0.80357	0.962000	0.63368	4.065000	0.57513	2.440000	0.82611	0.491000	0.48974	TCC		0.677	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		5	89	0	0	0	1	0	5	89				
NCKAP1L	3071	broad.mit.edu	37	12	54914489	54914489	+	Missense_Mutation	SNP	G	G	A	rs184942472		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:54914489G>A	ENST00000293373.6	+	17	1716	c.1637G>A	c.(1636-1638)cGt>cAt	p.R546H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R496H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	546					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTTCATCTTCGTATCTTTGAG	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		20830	0.001		0.0	False		,,,				2504	0.0					ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1636-1638)cGt>cAt		NCK-associated protein 1-like							295.0	259.0	272.0					12																	54914489		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54914489G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1637G>A	12.37:g.54914489G>A	ENSP00000293373:p.Arg546His					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R496H	p.R546H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			17	1716	+			546					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1637G>A	CCDS31813.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	26.4	4.737083	0.89482	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.33865	1.39;1.39	5.5	5.5	0.81552	.	0.052976	0.85682	D	0.000000	T	0.41143	0.1146	M	0.71581	2.175	0.54753	D	0.999983	B	0.33379	0.41	B	0.30646	0.118	T	0.40905	-0.9538	10	0.62326	D	0.03	-13.2191	17.2611	0.87070	0.0:0.0:1.0:0.0	.	546	P55160	NCKPL_HUMAN	H	546;496	ENSP00000293373:R546H;ENSP00000445596:R496H	ENSP00000293373:R546H	R	+	2	0	NCKAP1L	53200756	1.000000	0.71417	0.963000	0.40424	0.981000	0.71138	7.643000	0.83403	2.755000	0.94549	0.555000	0.69702	CGT		0.393	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		35	75	0	0	0	1	0	35	75				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	8	0	0	0	1	0	24	8				
RHCG	51458	broad.mit.edu	37	15	90023572	90023572	+	Missense_Mutation	SNP	C	C	T	rs149510924		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr15:90023572C>T	ENST00000268122.4	-	4	658	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	RHCG_ENST00000544600.1_Missense_Mutation_p.R197Q	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	197					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.R197L(1)|p.R197Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GTAGAGGATCCGGGTCACTGT	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21444	0.0		0.0	False		,,,				2504	0.0					ENST00000268122.4																			2	Substitution - Missense(2)	p.R197L(1)|p.R197Q(1)	lung(1)|endometrium(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(589-591)cGg>cAg		Rh family, C glycoprotein							222.0	202.0	209.0					15																	90023572		2200	4299	6499	SO:0001583	missense	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90023572C>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.590G>A	15.37:g.90023572C>T	ENSP00000268122:p.Arg197Gln					RHCG_ENST00000544600.1_Missense_Mutation_p.R197Q	p.R197Q	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN			4	658	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		197					A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	c.590G>A	CCDS10351.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.19	3.053694	0.55218	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.22336	1.96;1.96	5.45	4.54	0.55810	Ammonium transporter AmtB-like (3);	0.179356	0.53938	D	0.000054	T	0.24624	0.0597	M	0.84948	2.725	0.42316	D	0.992239	P;P	0.39060	0.657;0.657	B;B	0.29663	0.105;0.105	T	0.10847	-1.0612	9	.	.	.	-6.7371	10.5513	0.45090	0.0:0.7942:0.1335:0.0723	.	197;197	A8K4D4;Q9UBD6	.;RHCG_HUMAN	Q	197;197;188	ENSP00000438123:R197Q;ENSP00000268122:R197Q	.	R	-	2	0	RHCG	87824576	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.028000	0.57246	1.323000	0.45263	0.456000	0.33151	CGG		0.557	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		56	26	0	0	0	1	0	56	26				
LHFP	10186	broad.mit.edu	37	13	40175117	40175117	+	Silent	SNP	G	G	A	rs200795995	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr13:40175117G>A	ENST00000379589.3	-	2	699	c.237C>T	c.(235-237)agC>agT	p.S79S	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	79						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TCCATTCTGCGCTGGGGATGC	0.597			T	HMGA2	lipoma								G|||	2	0.000399361	0.0	0.0	5008	,	,		19516	0.002		0.0	False		,,,				2504	0.0					ENST00000379589.3				Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13						c.(235-237)agC>agT		lipoma HMGIC fusion partner							170.0	150.0	157.0					13																	40175117		2203	4300	6503	SO:0001819	synonymous_variant	10186					integral to membrane	DNA binding	g.chr13:40175117G>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.237C>T	13.37:g.40175117G>A							p.S79S	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	2	699	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	79					B2R7M2|Q53FC0|Q96SH5	Silent	SNP	ENST00000379589.3	37	c.237C>T	CCDS9369.1																																																																																				0.597	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		144	47	0	0	0	1	0	144	47				
CYP11B2	1585	broad.mit.edu	37	8	143996607	143996607	+	Silent	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr8:143996607C>A	ENST00000323110.2	-	3	452	c.450G>T	c.(448-450)tcG>tcT	p.S150S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	150					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CGGCCTTGGGCGACAGCACAT	0.637									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(448-450)tcG>tcT		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						61.0	51.0	54.0					8																	143996607		2203	4300	6503	SO:0001819	synonymous_variant	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143996607C>A	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.450G>T	8.37:g.143996607C>A							p.S150S	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			3	452	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		150					B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	c.450G>T	CCDS6393.1																																																																																				0.637	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			7	71	1	0	8.12818e-05	1	8.68059e-05	7	71				
HIVEP2	3097	broad.mit.edu	37	6	143091566	143091566	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:143091566C>T	ENST00000367604.1	-	4	4949	c.4310G>A	c.(4309-4311)gGt>gAt	p.G1437D	HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1437D|HIVEP2_ENST00000367603.2_Missense_Mutation_p.G1437D			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCGCTTGCTACCTCCCAGGGT	0.512																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(4309-4311)gGt>gAt		human immunodeficiency virus type I enhancer binding protein 2							101.0	102.0	101.0					6																	143091566		1975	4172	6147	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143091566C>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4310G>A	6.37:g.143091566C>T	ENSP00000356576:p.Gly1437Asp					HIVEP2_ENST00000367604.1_Missense_Mutation_p.G1437D|HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1437D	p.G1437D	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	5052	-			1437					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.4310G>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498157	0.64186	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.04970	3.52;3.52;3.52	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.20536	0.0494	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.00470	-1.1720	10	0.87932	D	0	-17.5026	20.0826	0.97783	0.0:1.0:0.0:0.0	.	1437	P31629	ZEP2_HUMAN	D	1437	ENSP00000356576:G1437D;ENSP00000356575:G1437D;ENSP00000012134:G1437D	ENSP00000012134:G1437D	G	-	2	0	HIVEP2	143133259	0.999000	0.42202	0.979000	0.43373	0.993000	0.82548	3.939000	0.56591	2.746000	0.94184	0.655000	0.94253	GGT		0.512	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			26	33	0	0	0	1	0	26	33				
KIAA1045	23349	broad.mit.edu	37	9	34978096	34978096	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr9:34978096G>A	ENST00000242315.3	+	8	1273	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	KIAA1045_ENST00000544237.1_Silent_p.K397K|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	397							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCACCTGAAGCCCCCAGGAT	0.557																																						ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1189-1191)aaG>aaA		KIAA1045							98.0	101.0	100.0					9																	34978096		2036	4174	6210	SO:0001819	synonymous_variant	23349						calcium ion binding	g.chr9:34978096G>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.1191G>A	9.37:g.34978096G>A						KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Silent_p.K397K	p.K397K	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		8	1273	+			397					B7Z253|Q58FE9|Q5T662	Silent	SNP	ENST00000242315.3	37	c.1191G>A	CCDS43796.1																																																																																				0.557	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		14	78	0	0	0	1	0	14	78				
SS18L1	26039	broad.mit.edu	37	20	60736500	60736500	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:60736500G>A	ENST00000331758.3	+	4	266	c.240G>A	c.(238-240)acG>acA	p.T80T	SS18L1_ENST00000421564.1_Silent_p.T80T|SS18L1_ENST00000370848.4_Silent_p.T83T	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	80	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			AGCCGCCCACGCAGAACATGA	0.622			T	SSX1	synovial sarcoma																																	ENST00000331758.3				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.(238-240)acG>acA		synovial sarcoma translocation gene on chromosome 18-like 1							30.0	36.0	34.0					20																	60736500		2203	4299	6502	SO:0001819	synonymous_variant	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60736500G>A	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.240G>A	20.37:g.60736500G>A						SS18L1_ENST00000421564.1_Silent_p.T80T|SS18L1_ENST00000370848.4_Silent_p.T83T	p.T80T	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		4	266	+	Breast(26;3.97e-09)		80			N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Silent	SNP	ENST00000331758.3	37	c.240G>A	CCDS13491.1																																																																																				0.622	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			27	52	0	0	0	1	0	27	52				
RP11-423O2.5	0	broad.mit.edu	37	1	142803562	142803562	+	lincRNA	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:142803562G>A	ENST00000423385.1	-	0	1403																											TCTGCAGTCAGGTAAGATTTC	0.259																																						ENST00000423385.1																			0																																																			0							g.chr1:142803562G>A																													1.37:g.142803562G>A														0	1403	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.259	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	158	0	0	0	1	0	5	158				
SHOX	6473	broad.mit.edu	37	X	601571	601571	+	Silent	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chrX:601571C>A	ENST00000554971.1	+	3	593	c.502C>A	c.(502-504)Cgg>Agg	p.R168R	SHOX_ENST00000381578.1_Silent_p.R168R|SHOX_ENST00000334060.3_Silent_p.R168R|SHOX_ENST00000381575.1_Silent_p.R168R			O15266	SHOX_HUMAN	short stature homeobox	168			R -> W (in LMD). {ECO:0000269|PubMed:11889214}.		skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTTCCAGAACCGGAGAGCCAA	0.592																																					Ovarian(95;18 1419 12424 14056 28266)	ENST00000381578.1																			0				endometrium(3)|lung(9)|prostate(1)	13	GRCh37	CM042777	SHOX	M	rs137852557	c.(502-504)Cgg>Agg		short stature homeobox							150.0	160.0	156.0					X																	601571		2203	4296	6499	SO:0001819	synonymous_variant	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:601571C>A	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.502C>A	X.37:g.601571C>A						SHOX_ENST00000334060.3_Silent_p.R168R|SHOX_ENST00000554971.1_Silent_p.R168R|SHOX_ENST00000381575.1_Silent_p.R168R	p.R168R	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN			4	1193	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	168		R -> W (in LMD).			O00412|O00413|O15267	Silent	SNP	ENST00000554971.1	37	c.502C>A	CCDS14107.1																																																																																				0.592	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		5	74	1	0	0.0215528	1	0.0217505	5	74				
BTNL2	56244	broad.mit.edu	37	6	32362585	32362585	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:32362585G>T	ENST00000374993.1	-	6	1295	c.1296C>A	c.(1294-1296)gaC>gaA	p.D432E	BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000374995.3_Missense_Mutation_p.D338E|BTNL2_ENST00000544175.1_Missense_Mutation_p.D155E|BTNL2_ENST00000414363.1_Missense_Mutation_p.D222E|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000540315.1_Missense_Mutation_p.D222E|BTNL2_ENST00000454136.3_Missense_Mutation_p.D432E	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	432						integral component of membrane (GO:0016021)		p.D432D(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						AACAAGTGACGTCCACAGCGG	0.498																																						ENST00000454136.3																			1	Substitution - coding silent(1)	p.D432D(1)	lung(1)	central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(1294-1296)gaC>gaA		butyrophilin-like 2 (MHC class II associated)							180.0	173.0	175.0					6																	32362585		2203	4300	6503	SO:0001583	missense	56244					integral to membrane		g.chr6:32362585G>T	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1296C>A	6.37:g.32362585G>T	ENSP00000364132:p.Asp432Glu					BTNL2_ENST00000374993.1_Missense_Mutation_p.D432E|BTNL2_ENST00000414363.1_Missense_Mutation_p.D222E|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000544175.1_Missense_Mutation_p.D155E|BTNL2_ENST00000540315.1_Missense_Mutation_p.D222E|BTNL2_ENST00000374995.3_Missense_Mutation_p.D338E	p.D432E			Q9UIR0	BTNL2_HUMAN			6	1300	-			432					A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.1296C>A		.	.	.	.	.	.	.	.	.	.	g	13.28	2.190378	0.38707	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000414363;ENST00000374993;ENST00000540315;ENST00000544175	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	4.93	-7.83	0.01201	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.417329	0.20501	N	0.091095	T	0.34193	0.0889	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.31752	0.338;0.327	B;B	0.37650	0.182;0.255	T	0.48210	-0.9055	10	0.72032	D	0.01	.	9.2494	0.37547	0.2891:0.1376:0.5734:0.0	.	222;432	Q9UIR0-4;Q9UIR0	.;BTNL2_HUMAN	E	432;338;222;432;222;155	ENSP00000364134:D338E;ENSP00000390512:D222E;ENSP00000364132:D432E;ENSP00000444714:D222E;ENSP00000443364:D155E	ENSP00000364132:D432E	D	-	3	2	BTNL2	32470563	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-0.547000	0.06055	-1.543000	0.01723	-0.357000	0.07601	GAC		0.498	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		14	78	1	0	7.93312e-07	1	8.81458e-07	14	78				
LNPEP	4012	broad.mit.edu	37	5	96360368	96360368	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:96360368A>G	ENST00000231368.5	+	15	3397	c.2705A>G	c.(2704-2706)gAt>gGt	p.D902G	LNPEP_ENST00000395770.3_Missense_Mutation_p.D888G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	902					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGCTCAGAGGATGTGCGGAAG	0.408																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2704-2706)gAt>gGt		leucyl/cystinyl aminopeptidase							58.0	55.0	56.0					5																	96360368		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96360368A>G	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2705A>G	5.37:g.96360368A>G	ENSP00000231368:p.Asp902Gly					LNPEP_ENST00000395770.3_Missense_Mutation_p.D888G	p.D902G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	15	3397	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	902					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.2705A>G	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994848	0.54041	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.08370	3.1;3.1	5.96	5.96	0.96718	.	0.040620	0.85682	D	0.000000	T	0.23094	0.0558	M	0.62723	1.935	0.80722	D	1	B	0.32939	0.391	P	0.49012	0.598	T	0.00636	-1.1633	10	0.66056	D	0.02	.	16.1099	0.81255	1.0:0.0:0.0:0.0	.	902	Q9UIQ6	LCAP_HUMAN	G	902;888	ENSP00000231368:D902G;ENSP00000379117:D888G	ENSP00000231368:D902G	D	+	2	0	LNPEP	96386124	1.000000	0.71417	0.986000	0.45419	0.093000	0.18481	7.924000	0.87555	2.285000	0.76669	0.533000	0.62120	GAT		0.408	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		11	20	0	0	0	1	0	11	20				
SGSH	6448	broad.mit.edu	37	17	78184304	78184304	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:78184304C>T	ENST00000326317.6	-	8	1542	c.1456G>A	c.(1456-1458)Gtc>Atc	p.V486I	SGSH_ENST00000534910.1_Missense_Mutation_p.V283I	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	486			V -> F (in MPS3A). {ECO:0000269|PubMed:11182930}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCCTCCAGGACGCCGTCGGGG	0.652																																						ENST00000326317.6																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	GRCh37	CM002403	SGSH	M		c.(1456-1458)Gtc>Atc		N-sulfoglucosamine sulfohydrolase							24.0	27.0	26.0					17																	78184304		2198	4299	6497	SO:0001583	missense	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78184304C>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1456G>A	17.37:g.78184304C>T	ENSP00000314606:p.Val486Ile					SGSH_ENST00000534910.1_Missense_Mutation_p.V283I	p.V486I	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		8	1542	-	all_neural(118;0.0952)		486		V -> F (in MPS3A).			A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.1456G>A	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001851	0.93227	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.82167	-1.58;-1.58	4.89	4.89	0.63831	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.92126	0.7504	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92813	0.6266	10	0.49607	T	0.09	-45.5809	17.6367	0.88124	0.0:1.0:0.0:0.0	.	486	P51688	SPHM_HUMAN	I	486;283	ENSP00000314606:V486I;ENSP00000437778:V283I	ENSP00000314606:V486I	V	-	1	0	SGSH	75798899	1.000000	0.71417	0.903000	0.35520	0.866000	0.49608	4.781000	0.62389	2.240000	0.73641	0.555000	0.69702	GTC		0.652	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		5	15	0	0	0	1	0	5	15				
PTCHD4	442213	broad.mit.edu	37	6	47847228	47847228	+	Missense_Mutation	SNP	C	C	T	rs369189426		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:47847228C>T	ENST00000339488.4	-	3	1385	c.1352G>A	c.(1351-1353)cGt>cAt	p.R451H		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	451						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ATAATGTTCACGGAGGAAGTG	0.448																																						ENST00000339488.4																			0											c.(1351-1353)cGt>cAt		patched domain containing 4		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	118.0	122.0		1352	4.8	0.9	6		122	0,8600		0,0,4300	no	missense	C6orf138	NM_001013732.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	451/847	47847228	1,13005	2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847228C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1352G>A	6.37:g.47847228C>T	ENSP00000341914:p.Arg451His						p.R451H	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	1385	-			451					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1352G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488849	0.44249	2.27E-4	0.0	ENSG00000244694	ENST00000339488	D	0.86164	-2.08	5.63	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.65498	2.005	0.80722	D	1	P	0.45986	0.87	B	0.36335	0.222	T	0.82778	-0.0289	10	0.72032	D	0.01	.	14.3884	0.66961	0.0:0.9293:0.0:0.0707	.	451	Q6ZW05	CF138_HUMAN	H	451	ENSP00000341914:R451H	ENSP00000341914:R451H	R	-	2	0	C6orf138	47955187	1.000000	0.71417	0.949000	0.38748	0.990000	0.78478	4.678000	0.61641	1.400000	0.46741	0.650000	0.86243	CGT		0.448	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		12	30	0	0	0	1	0	12	30				
B4GALNT3	283358	broad.mit.edu	37	12	667810	667810	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:667810C>G	ENST00000266383.5	+	18	2757	c.2744C>G	c.(2743-2745)aCc>aGc	p.T915S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	915					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGTGGGGCCACCCCCCAGTGG	0.567																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2743-2745)aCc>aGc		beta-1,4-N-acetyl-galactosaminyl transferase 3							88.0	73.0	78.0					12																	667810		2203	4299	6502	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667810C>G	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2744C>G	12.37:g.667810C>G	ENSP00000266383:p.Thr915Ser						p.T915S	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		18	2757	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		915					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2744C>G	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	8.062	0.768287	0.15983	.	.	ENSG00000139044	ENST00000266383	T	0.14766	2.48	4.69	4.69	0.59074	.	0.054502	0.64402	D	0.000001	T	0.11024	0.0269	N	0.11698	0.16	0.53688	D	0.999972	P	0.40578	0.722	P	0.46585	0.521	T	0.02909	-1.1095	10	0.02654	T	1	-25.2651	17.9954	0.89182	0.0:1.0:0.0:0.0	.	915	Q6L9W6	B4GN3_HUMAN	S	915	ENSP00000266383:T915S	ENSP00000266383:T915S	T	+	2	0	B4GALNT3	538071	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.005000	0.70716	2.300000	0.77407	0.455000	0.32223	ACC		0.567	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		9	30	0	0	0	1	0	9	30				
KIAA1211	57482	broad.mit.edu	37	4	57193840	57193840	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:57193840C>T	ENST00000504228.1	+	9	3677	c.3572C>T	c.(3571-3573)cCg>cTg	p.P1191L	KIAA1211_ENST00000264229.6_Missense_Mutation_p.P1191L|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P1184L			Q6ZU35	K1211_HUMAN	KIAA1211	1191										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCCCCAGCGCCGCTGGTAAAA	0.483																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3571-3573)cCg>cTg		KIAA1211							93.0	97.0	95.0					4																	57193840		1821	4084	5905	SO:0001583	missense	57482							g.chr4:57193840C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3572C>T	4.37:g.57193840C>T	ENSP00000423366:p.Pro1191Leu					KIAA1211_ENST00000541073.1_Missense_Mutation_p.P1184L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P1191L	p.P1191L			Q6ZU35	K1211_HUMAN			9	3677	+	Glioma(25;0.08)|all_neural(26;0.101)		1191					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.3572C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352556	0.61293	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.75154	-0.91;-0.91;-0.91	5.59	5.59	0.84812	.	.	.	.	.	D	0.83931	0.5361	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.63957	0.92;0.92	D	0.85029	0.0916	9	0.87932	D	0	-9.3173	19.5815	0.95469	0.0:1.0:0.0:0.0	.	1184;1191	F5H1N7;Q6ZU35	.;K1211_HUMAN	L	1191;1191;1184	ENSP00000264229:P1191L;ENSP00000423366:P1191L;ENSP00000444006:P1184L	ENSP00000264229:P1191L	P	+	2	0	KIAA1211	56888597	1.000000	0.71417	0.053000	0.19242	0.015000	0.08874	7.487000	0.81328	2.620000	0.88729	0.655000	0.94253	CCG		0.483	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		61	76	0	0	0	1	0	61	76				
ANXA10	11199	broad.mit.edu	37	4	169049237	169049237	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:169049237G>A	ENST00000359299.3	+	2	207	c.21G>A	c.(19-21)gtG>gtA	p.V7V		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	7						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CCCACCAGGTGCAAGGAACCA	0.433																																						ENST00000359299.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16						c.(19-21)gtG>gtA		annexin A10							108.0	105.0	106.0					4																	169049237		2203	4300	6503	SO:0001819	synonymous_variant	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169049237G>A	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.21G>A	4.37:g.169049237G>A							p.V7V	NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	2	207	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	7					Q96IQ5|Q9UJV4	Silent	SNP	ENST00000359299.3	37	c.21G>A	CCDS34096.1																																																																																				0.433	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		10	15	0	0	0	1	0	10	15				
C1orf177	163747	broad.mit.edu	37	1	55277787	55277787	+	Silent	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:55277787C>A	ENST00000371273.3	+	6	702	c.687C>A	c.(685-687)gtC>gtA	p.V229V	C1orf177_ENST00000358193.3_Silent_p.V229V	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	229										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CACGATCCGTCGGCACCCGCG	0.587																																						ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(685-687)gtC>gtA		chromosome 1 open reading frame 177							98.0	95.0	96.0					1																	55277787		2203	4300	6503	SO:0001819	synonymous_variant	163747							g.chr1:55277787C>A	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.687C>A	1.37:g.55277787C>A						C1orf177_ENST00000371273.3_Silent_p.V229V	p.V229V	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN			6	741	+			229					B7WPL2|Q8N7Y9	Silent	SNP	ENST00000371273.3	37	c.687C>A	CCDS44153.1																																																																																				0.587	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		20	67	1	0	5.03518e-11	1	5.76948e-11	20	67				
OR5D14	219436	broad.mit.edu	37	11	55563417	55563417	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr11:55563417G>A	ENST00000335605.1	+	1	386	c.386G>A	c.(385-387)tGc>tAc	p.C129Y		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTGGCCATCTGCAATCCTCTG	0.532																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(385-387)tGc>tAc		olfactory receptor, family 5, subfamily D, member 14							104.0	90.0	95.0					11																	55563417		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563417G>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.386G>A	11.37:g.55563417G>A	ENSP00000334456:p.Cys129Tyr						p.C129Y	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	386	+		all_epithelial(135;0.196)	129					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.386G>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	g	17.83	3.484966	0.63962	.	.	ENSG00000186113	ENST00000335605	T	0.07216	3.21	5.08	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.262007	0.26609	N	0.023425	T	0.25044	0.0608	M	0.87180	2.865	0.46222	D	0.998932	D	0.56287	0.975	P	0.54924	0.764	T	0.03034	-1.1080	10	0.72032	D	0.01	-10.4559	11.702	0.51577	0.0864:0.0:0.9136:0.0	.	129	Q8NGL3	OR5DE_HUMAN	Y	129	ENSP00000334456:C129Y	ENSP00000334456:C129Y	C	+	2	0	OR5D14	55319993	1.000000	0.71417	0.825000	0.32803	0.561000	0.35649	5.909000	0.69923	2.363000	0.80096	0.643000	0.83706	TGC		0.532	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		7	50	0	0	0	1	0	7	50				
KDELR2	11014	broad.mit.edu	37	7	6509337	6509337	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr7:6509337T>G	ENST00000258739.4	-	3	425	c.241A>C	c.(241-243)Aaa>Caa	p.K81Q	KDELR2_ENST00000463747.1_Intron|KDELR2_ENST00000490996.1_Missense_Mutation_p.K81Q|DAGLB_ENST00000436575.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	81					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GCCTTAAATTTCAGGTAGATC	0.443																																						ENST00000258739.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(241-243)Aaa>Caa		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2							94.0	89.0	91.0					7																	6509337		2203	4300	6503	SO:0001583	missense	0				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity	g.chr7:6509337T>G	X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.241A>C	7.37:g.6509337T>G	ENSP00000258739:p.Lys81Gln					KDELR2_ENST00000490996.1_Missense_Mutation_p.K81Q|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron	p.K81Q	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	425	-		Ovarian(82;0.0776)	81					A4D2P4|Q6IPC5|Q96E30	Missense_Mutation	SNP	ENST00000258739.4	37	c.241A>C	CCDS5351.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.028109	0.93518	.	.	ENSG00000136240	ENST00000258739;ENST00000490996	T	0.50001	0.76	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.90252	3.1	0.80722	D	1	D;P	0.61697	0.99;0.828	D;P	0.67548	0.952;0.58	T	0.77480	-0.2572	10	0.45353	T	0.12	-15.9206	16.1331	0.81458	0.0:0.0:0.0:1.0	.	81;81	P33947-2;P33947	.;ERD22_HUMAN	Q	81	ENSP00000258739:K81Q	ENSP00000258739:K81Q	K	-	1	0	KDELR2	6475862	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.950000	0.87804	2.268000	0.75426	0.455000	0.32223	AAA		0.443	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2			21	66	0	0	0	1	0	21	66				
SERPINB9	5272	broad.mit.edu	37	6	2893765	2893765	+	Silent	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:2893765C>T	ENST00000380698.4	-	5	536	c.447G>A	c.(445-447)ccG>ccA	p.P149P		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	149					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TTGAGCTACCCGGCAACAACT	0.393																																						ENST00000380698.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(445-447)ccG>ccA		serpin peptidase inhibitor, clade B (ovalbumin), member 9							114.0	111.0	112.0					6																	2893765		2203	4300	6503	SO:0001819	synonymous_variant	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2893765C>T	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.447G>A	6.37:g.2893765C>T							p.P149P	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			5	536	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	149					B2RBW3|Q5TD03	Silent	SNP	ENST00000380698.4	37	c.447G>A	CCDS4478.1																																																																																				0.393	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			39	13	0	0	0	1	0	39	13				
CD1D	912	broad.mit.edu	37	1	158152703	158152703	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:158152703C>A	ENST00000368171.3	+	5	1142	c.643C>A	c.(643-645)Cct>Act	p.P215T		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	215	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGGCCCCAGTCCTGGCCCTGG	0.592																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(643-645)Cct>Act		CD1d molecule							80.0	81.0	81.0					1																	158152703		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152703C>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.643C>A	1.37:g.158152703C>A	ENSP00000357153:p.Pro215Thr						p.P215T	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			5	1142	+	all_hematologic(112;0.0378)		215			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.643C>A	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.868225	0.51588	.	.	ENSG00000158473	ENST00000368171	T	0.12984	2.63	5.18	2.16	0.27623	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);	0.137270	0.34110	N	0.004245	T	0.18676	0.0448	M	0.87097	2.86	0.09310	N	1	D	0.58268	0.982	P	0.60473	0.875	T	0.03555	-1.1025	10	0.59425	D	0.04	-11.0479	5.6194	0.17450	0.0:0.6424:0.1676:0.19	.	215	P15813	CD1D_HUMAN	T	215	ENSP00000357153:P215T	ENSP00000357153:P215T	P	+	1	0	CD1D	156419327	0.001000	0.12720	0.385000	0.26158	0.960000	0.62799	0.744000	0.26245	0.643000	0.30638	0.655000	0.94253	CCT		0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		20	65	1	0	1.01871e-10	1	1.15524e-10	20	65				
LRRC4B	94030	broad.mit.edu	37	19	51022478	51022478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:51022478C>T	ENST00000599957.1	-	3	689	c.492G>A	c.(490-492)tgG>tgA	p.W164*	LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.W164*			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	164					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGTTCCGCAGCCAGAGCTCCC	0.652																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(490-492)tgG>tgA		leucine rich repeat containing 4B							58.0	64.0	62.0					19																	51022478		2202	4300	6502	SO:0001587	stop_gained	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022478C>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.492G>A	19.37:g.51022478C>T	ENSP00000471502:p.Trp164*					LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.W164*	p.W164*			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	689	-		all_neural(266;0.131)	164					Q3ZCQ4|Q58F20	Nonsense_Mutation	SNP	ENST00000599957.1	37	c.492G>A	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	35	5.503246	0.96371	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	.	.	.	3.96	3.96	0.45880	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	13.9104	0.63864	0.0:1.0:0.0:0.0	.	.	.	.	X	164	.	ENSP00000373853:W164X	W	-	3	0	LRRC4B	55714290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.645000	0.83430	2.235000	0.73313	0.491000	0.48974	TGG		0.652	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		40	53	0	0	0	1	0	40	53				
FAM49A	81553	broad.mit.edu	37	2	16742751	16742751	+	Silent	SNP	G	G	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr2:16742751G>T	ENST00000381323.3	-	7	706	c.486C>A	c.(484-486)atC>atA	p.I162I	FAM49A_ENST00000406434.1_Silent_p.I162I|FAM49A_ENST00000355549.2_Silent_p.I162I	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	162						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GGTTGCGACTGATTGTTCTTC	0.493																																						ENST00000381323.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23						c.(484-486)atC>atA		family with sequence similarity 49, member A							149.0	128.0	135.0					2																	16742751		2203	4300	6503	SO:0001819	synonymous_variant	81553					intracellular		g.chr2:16742751G>T	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.486C>A	2.37:g.16742751G>T						FAM49A_ENST00000406434.1_Silent_p.I162I|FAM49A_ENST00000355549.2_Silent_p.I162I	p.I162I	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		7	706	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		162					B3KNZ1|Q53QW2	Silent	SNP	ENST00000381323.3	37	c.486C>A	CCDS1688.1																																																																																				0.493	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		9	42	1	0	0.000978159	1	0.00100558	9	42				
MT-ND2	4536	broad.mit.edu	37	M	2113	2113	+	5'Flank	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chrM:2113G>A	ENST00000361453.3	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CAAAGAGGAACAGCTCTTTGG	0.383																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2113G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2113G>A	Exception_encountered							NR_039705.1						0	443	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.383	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		69	7	0	0	0	1	0	69	7				
SLC43A1	8501	broad.mit.edu	37	11	57281459	57281459	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr11:57281459G>C	ENST00000278426.3	-	2	481	c.126C>G	c.(124-126)aaC>aaG	p.N42K	SLC43A1_ENST00000528450.1_Missense_Mutation_p.N42K	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGAAGCCCTCGTTCTTCAGAA	0.597																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(124-126)aaC>aaG		solute carrier family 43 (amino acid system L transporter), member 1							42.0	37.0	39.0					11																	57281459		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57281459G>C	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.126C>G	11.37:g.57281459G>C	ENSP00000278426:p.Asn42Lys					SLC43A1_ENST00000528450.1_Missense_Mutation_p.N42K	p.N42K	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN			2	481	-			42						Missense_Mutation	SNP	ENST00000278426.3	37	c.126C>G	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.288941	0.01387	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000533066;ENST00000533263	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.23	-10.5	0.00291	Major facilitator superfamily domain, general substrate transporter (1);	1.210410	0.05437	N	0.546938	T	0.11750	0.0286	N	0.03000	-0.44	0.19300	N	0.999979	B	0.02656	0.0	B	0.04013	0.001	T	0.07214	-1.0784	10	0.02654	T	1	-7.0E-4	5.727	0.18018	0.2619:0.099:0.4779:0.1613	.	42	O75387	LAT3_HUMAN	K	42	ENSP00000278426:N42K;ENSP00000435673:N42K;ENSP00000435647:N42K;ENSP00000435486:N42K	ENSP00000278426:N42K	N	-	3	2	SLC43A1	57038035	0.000000	0.05858	0.042000	0.18584	0.612000	0.37316	-4.009000	0.00314	-2.921000	0.00304	-1.331000	0.01271	AAC		0.597	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		19	3	0	0	0	1	0	19	3				
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200299226	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				ERCC8_ENST00000265038.5_5'Flank|NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000426742.2_5'Flank|ERCC8_ENST00000543101.1_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6								NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							29.0	29.0	29.0					5																	60241050		2203	4300	6503			91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241050G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.-33G>A	5.37:g.60241050G>A						NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame		NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			0	95	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)						A8K5I1	Translation_Start_Site	SNP	ENST00000296597.5	37		CCDS3979.1																																																																																				0.632	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		3	15	0	0	0	1	0	3	15				
LARP4B	23185	broad.mit.edu	37	10	909780	909780	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:909780G>A	ENST00000316157.3	-	4	373	c.333C>T	c.(331-333)gcC>gcT	p.A111A		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	111					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTGGCAATGCGGCATTCTCAT	0.507																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(331-333)gcC>gcT		La ribonucleoprotein domain family, member 4B							99.0	96.0	97.0					10																	909780		2203	4300	6503	SO:0001819	synonymous_variant	23185						nucleotide binding|RNA binding	g.chr10:909780G>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.333C>T	10.37:g.909780G>A							p.A111A	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			4	373	-			111					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	ENST00000316157.3	37	c.333C>T	CCDS31131.1																																																																																				0.507	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		49	48	0	0	0	1	0	49	48				
PYY	5697	broad.mit.edu	37	17	42030806	42030806	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:42030806G>C	ENST00000360085.2	-	5	586	c.46C>G	c.(46-48)Ctg>Gtg	p.L16V	PYY_ENST00000592796.1_Missense_Mutation_p.L16V	NM_004160.4	NP_004151	P10082	PYY_HUMAN	peptide YY	16					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|digestion (GO:0007586)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(1)|ovary(1)	2		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGCAGGGCCAGAAGCACTGTG	0.662																																						ENST00000360085.2																			0				endometrium(1)|ovary(1)	2						c.(46-48)Ctg>Gtg		peptide YY							28.0	26.0	26.0					17																	42030806		2202	4300	6502	SO:0001583	missense	5697				cell proliferation|cell-cell signaling|cellular component movement|cytoskeleton organization|digestion|G-protein coupled receptor protein signaling pathway	soluble fraction		g.chr17:42030806G>C		CCDS32662.1	17q21.1	2013-02-28				ENSG00000131096		"""Endogenous ligands"""	9748	protein-coding gene	gene with protein product	"""prepro-PYY"""	600781				7782089	Standard	NM_004160		Approved	PYY1	uc002ieq.3	P10082		ENST00000360085.2:c.46C>G	17.37:g.42030806G>C	ENSP00000353198:p.Leu16Val					PYY_ENST00000592796.1_Missense_Mutation_p.L16V	p.L16V	NM_004160.4	NP_004151.3	P10082	PYY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	5	586	-		Breast(137;0.00314)|Prostate(33;0.0724)	16					Q5U5Q6|Q6FGH8	Missense_Mutation	SNP	ENST00000360085.2	37	c.46C>G	CCDS32662.1	.	.	.	.	.	.	.	.	.	.	.	14.83	2.651490	0.47362	.	.	ENSG00000131096	ENST00000360085	T	0.21543	2.0	4.73	3.75	0.43078	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.43632	D	0.99602	B	0.22909	0.077	B	0.23150	0.044	T	0.03268	-1.1054	8	0.45353	T	0.12	-0.0588	10.9836	0.47510	0.0:0.1893:0.8107:0.0	.	16	P10082	PYY_HUMAN	V	16	ENSP00000353198:L16V	ENSP00000353198:L16V	L	-	1	2	PYY	39386332	1.000000	0.71417	0.987000	0.45799	0.071000	0.16799	5.638000	0.67861	0.966000	0.38159	-0.326000	0.08463	CTG		0.662	PYY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000457658.1	NM_004160		4	22	0	0	0	1	0	4	22				
MPHOSPH9	10198	broad.mit.edu	37	12	123703047	123703047	+	Splice_Site	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:123703047C>A	ENST00000606320.1	-	6	1079		c.e6-1		MPHOSPH9_ENST00000541076.2_Splice_Site|MPHOSPH9_ENST00000302349.5_Splice_Site|MPHOSPH9_ENST00000392425.3_Splice_Site			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9							centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TATAGCATTACTATTTAAGAA	0.398																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.e6-1		M-phase phosphoprotein 9							165.0	151.0	156.0					12																	123703047		2203	4300	6503	SO:0001630	splice_region_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123703047C>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.873-1G>T	12.37:g.123703047C>A						MPHOSPH9_ENST00000541076.2_Splice_Site|MPHOSPH9_ENST00000302349.5_Splice_Site|MPHOSPH9_ENST00000392425.3_Splice_Site				Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	6	1079	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)							A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Splice_Site	SNP	ENST00000606320.1	37			.	.	.	.	.	.	.	.	.	.	C	13.44	2.238865	0.39598	.	.	ENSG00000051825;ENSG00000051825;ENSG00000257076;ENSG00000257076	ENST00000302349;ENST00000541076;ENST00000539336;ENST00000537854	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0755	0.80965	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MPHOSPH9;RP11-546D6.2	122269000	0.993000	0.37304	0.116000	0.21606	0.189000	0.23516	1.430000	0.34914	2.397000	0.81536	0.555000	0.69702	.		0.398	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2		Intron	9	75	1	0	0.000673444	1	0.000698857	9	75				
MARCH8	220972	broad.mit.edu	37	10	45954693	45954693	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:45954693G>A	ENST00000319836.3	-	6	1195	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MARCH8_ENST00000453424.2_Missense_Mutation_p.S431F|MARCH8_ENST00000395769.2_Missense_Mutation_p.S149F|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395771.3_Missense_Mutation_p.S149F	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	149					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						GCGCTCGCTGGACGTCATCTG	0.532																																					NSCLC(102;658 1594 2173 16344 34808)	ENST00000453424.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						c.(1291-1293)tCc>tTc		membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase							184.0	144.0	158.0					10																	45954693		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45954693G>A	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.446C>T	10.37:g.45954693G>A	ENSP00000317087:p.Ser149Phe					MARCH8_ENST00000395769.2_Missense_Mutation_p.S149F|MARCH8_ENST00000319836.3_Missense_Mutation_p.S149F|MARCH8_ENST00000395771.3_Missense_Mutation_p.S149F|MARCH8_ENST00000476962.1_5'UTR	p.S431F			Q5T0T0	MARH8_HUMAN			7	1553	-			149					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.1292C>T	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503913	0.44558	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769	T;T;T	0.12255	2.7;2.7;2.7	5.9	2.96	0.34315	.	0.555807	0.21103	N	0.080128	T	0.11922	0.0290	L	0.32530	0.975	0.26011	N	0.981993	B;B	0.33073	0.396;0.239	B;B	0.35859	0.212;0.212	T	0.12863	-1.0531	10	0.44086	T	0.13	-12.9337	10.9602	0.47381	0.0:0.2633:0.6001:0.1366	.	149;313	Q5T0T0;Q5JQ16	MARH8_HUMAN;.	F	149	ENSP00000379118:S149F;ENSP00000317087:S149F;ENSP00000379116:S149F	ENSP00000317087:S149F	S	-	2	0	MARCH8	45274699	1.000000	0.71417	0.178000	0.23040	0.543000	0.35085	4.881000	0.63114	0.367000	0.24454	0.655000	0.94253	TCC		0.532	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		17	96	0	0	0	1	0	17	96				
MKI67	4288	broad.mit.edu	37	10	129905831	129905831	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:129905831C>T	ENST00000368654.3	-	13	4648	c.4273G>A	c.(4273-4275)Gga>Aga	p.G1425R	MKI67_ENST00000368653.3_Missense_Mutation_p.G1065R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1425	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCTCACCTCCTGGTACTTTA	0.478																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4273-4275)Gga>Aga		marker of proliferation Ki-67							282.0	264.0	270.0					10																	129905831		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905831C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4273G>A	10.37:g.129905831C>T	ENSP00000357643:p.Gly1425Arg					MKI67_ENST00000368653.3_Missense_Mutation_p.G1065R	p.G1425R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4648	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1425			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4273G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332097	0.24167	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02085	4.46;4.46	4.02	0.749	0.18381	.	.	.	.	.	T	0.03695	0.0105	L	0.55481	1.735	0.09310	N	1	B;P;P	0.50272	0.006;0.933;0.863	B;P;P	0.45794	0.004;0.493;0.454	T	0.43278	-0.9401	9	0.16896	T	0.51	.	12.2873	0.54798	0.0:0.4925:0.5075:0.0	.	1424;1065;1425	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	R	1425;1065;1424	ENSP00000357643:G1425R;ENSP00000357642:G1065R	ENSP00000357642:G1065R	G	-	1	0	MKI67	129795821	0.009000	0.17119	0.000000	0.03702	0.015000	0.08874	0.738000	0.26158	0.058000	0.16222	0.561000	0.74099	GGA		0.478	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		6	246	0	0	0	1	0	6	246				
SYNE3	161176	broad.mit.edu	37	14	95921744	95921744	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr14:95921744G>A	ENST00000334258.5	-	5	1121	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	SYNE3_ENST00000554873.1_Silent_p.D126D|SYNE3_ENST00000553340.1_Silent_p.D369D|SYNE3_ENST00000557275.1_Silent_p.D369D	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	369					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCACCAGCTCGTCCTCGGTCC	0.642																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(1105-1107)gaC>gaT		spectrin repeat containing, nuclear envelope family member 3							32.0	35.0	34.0					14																	95921744		2203	4300	6503	SO:0001819	synonymous_variant	161176							g.chr14:95921744G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1107C>T	14.37:g.95921744G>A						SYNE3_ENST00000554873.1_Silent_p.D126D|SYNE3_ENST00000557275.1_Silent_p.D369D|SYNE3_ENST00000553340.1_Silent_p.D369D	p.D369D	NM_152592.3	NP_689805.3					5	1121	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.1107C>T	CCDS9935.1																																																																																				0.642	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		8	29	0	0	0	1	0	8	29				
FAM86EP	348926	broad.mit.edu	37	4	3952899	3952899	+	RNA	SNP	A	A	T	rs17410906		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:3952899A>T	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AGCACCGGGCATACTTGACTG	0.557																																						ENST00000281228.8																			0																																																			0							g.chr4:3952899A>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3952899A>T						FAM86EP_ENST00000313946.8_RNA								0	208	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.557	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			4	51	0	0	0	1	0	4	51				
MT-ND5	4540	broad.mit.edu	37	M	13608	13608	+	Silent	SNP	T	T	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chrM:13608T>C	ENST00000361567.2	+	1	1272	c.1272T>C	c.(1270-1272)acT>acC	p.T424T	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	424					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						GCCTATAGCACTCGAATAATT	0.463																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1270-1272)acT>acC		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13608T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1272T>C	M.37:g.13608T>C							p.T424T			P03915	NU5M_HUMAN			1	1272	+			424					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.1272T>C																																																																																					0.463	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		53	88	0	0	0	1	0	53	88				
RDH14	57665	broad.mit.edu	37	2	18736500	18736500	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr2:18736500T>G	ENST00000381249.3	-	2	1075	c.968A>C	c.(967-969)aAa>aCa	p.K323T	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	323					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	ATCCCAGAGTTTTCTTGCAAC	0.413																																						ENST00000381249.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(967-969)aAa>aCa		retinol dehydrogenase 14 (all-trans/9-cis/11-cis)							151.0	149.0	150.0					2																	18736500		2203	4300	6503	SO:0001583	missense	57665							g.chr2:18736500T>G	AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19979	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 4"""		"""retinol dehydrogenase 14 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.968A>C	2.37:g.18736500T>G	ENSP00000370648:p.Lys323Thr					RDH14_ENST00000468071.1_5'UTR	p.K323T	NM_020905.3	NP_065956.1					2	1075	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)								Missense_Mutation	SNP	ENST00000381249.3	37	c.968A>C	CCDS1693.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.687200	0.68157	.	.	ENSG00000240857	ENST00000381249	T	0.63913	-0.07	5.82	5.82	0.92795	NAD(P)-binding domain (1);	.	.	.	.	T	0.76828	0.4042	M	0.82132	2.575	0.48135	D	0.999598	D	0.67145	0.996	P	0.57324	0.818	T	0.79472	-0.1789	9	0.52906	T	0.07	.	16.1742	0.81840	0.0:0.0:0.0:1.0	.	323	Q9HBH5	RDH14_HUMAN	T	323	ENSP00000370648:K323T	ENSP00000370648:K323T	K	-	2	0	RDH14	18599981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.966000	0.56795	2.223000	0.72356	0.482000	0.46254	AAA		0.413	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1			33	71	0	0	0	1	0	33	71				
HBA1	3039	broad.mit.edu	37	16	227404	227404	+	Nonsense_Mutation	SNP	C	C	A	rs121913128		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr16:227404C>A	ENST00000320868.5	+	3	460	c.423C>A	c.(421-423)taC>taA	p.Y141*	HBA1_ENST00000397797.1_Nonsense_Mutation_p.Y109*|Y_RNA_ENST00000384514.1_RNA	NM_000558.3	NP_000549.1	P69905	HBA_HUMAN	hemoglobin, alpha 1	141			Y -> H (in Rouen/Ethiopia; O(2) affinity up). {ECO:0000269|PubMed:1428951}.		bicarbonate transport (GO:0015701)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of cell death (GO:0010942)|protein heterooligomerization (GO:0051291)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			lung(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Iron Dextran(DB00893)|Mefloquine(DB00358)	CCTCCAAATACCGTTAAGCTG	0.647											OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000320868.5																			0				lung(1)	1						c.(421-423)taC>taA		hemoglobin, alpha 1	Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)						50.0	43.0	46.0					16																	227404		2203	4300	6503	SO:0001587	stop_gained	3039				hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	g.chr16:227404C>A	AF349571	CCDS10399.1	16p13.3	2014-05-19			ENSG00000206172	ENSG00000206172			4823	protein-coding gene	gene with protein product		141800				1975428, 2649166	Standard	NM_000558		Approved	HBA-T3	uc002cfx.1	P69905	OTTHUMG00000060138	ENST00000320868.5:c.423C>A	16.37:g.227404C>A	ENSP00000322421:p.Tyr141*		OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	586	HBA1_ENST00000397797.1_Nonsense_Mutation_p.Y109*	p.Y141*	NM_000558.3	NP_000549.1	P69905	HBA_HUMAN			3	460	+		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	141		Y -> H (in Rouen/Ethiopia; O(2) affinity up).			P01922|Q1HDT5|Q3MIF5|Q53F97|Q96KF1|Q9NYR7|Q9UCM0	Nonsense_Mutation	SNP	ENST00000320868.5	37	c.423C>A	CCDS10399.1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.525657	0.27299	.	.	ENSG00000206172	ENST00000320868;ENST00000397797	.	.	.	3.94	1.48	0.22813	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.29676	N	0.842056	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-45.8768	6.9625	0.24605	0.0:0.7357:0.0:0.2643	.	.	.	.	X	141;109	.	ENSP00000322421:Y141X	Y	+	3	2	HBA1	167404	1.000000	0.71417	0.007000	0.13788	0.957000	0.61999	1.145000	0.31577	0.083000	0.17047	0.556000	0.70494	TAC		0.647	HBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133459.1	NM_000558		5	17	1	0	0.000602214	1	0.000630891	5	17				
GRXCR1	389207	broad.mit.edu	37	4	42895339	42895339	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:42895339G>A	ENST00000399770.2	+	1	56	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	19					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTCCGGTTTCGGATCGCGTCC	0.512																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(55-57)cGg>cAg		glutaredoxin, cysteine rich 1							112.0	120.0	117.0					4																	42895339		2020	4179	6199	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895339G>A		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.56G>A	4.37:g.42895339G>A	ENSP00000382670:p.Arg19Gln						p.R19Q	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			1	56	+			19						Missense_Mutation	SNP	ENST00000399770.2	37	c.56G>A	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940679	0.92526	.	.	ENSG00000215203	ENST00000399770	T	0.35048	1.33	5.63	5.63	0.86233	.	0.000000	0.85682	U	0.000000	T	0.57533	0.2060	L	0.55481	1.735	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.56013	-0.8049	10	0.56958	D	0.05	-26.429	18.6831	0.91554	0.0:0.0:1.0:0.0	.	19	A8MXD5	GRCR1_HUMAN	Q	19	ENSP00000382670:R19Q	ENSP00000382670:R19Q	R	+	2	0	GRXCR1	42590096	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	9.470000	0.97683	2.649000	0.89929	0.650000	0.86243	CGG		0.512	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		19	105	0	0	0	1	0	19	105				
TRHR	7201	broad.mit.edu	37	8	110131681	110131681	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr8:110131681T>A	ENST00000518632.1	+	3	1545	c.1194T>A	c.(1192-1194)agT>agA	p.S398R	TRHR_ENST00000311762.2_Missense_Mutation_p.S398R			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	398					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTAGCCAAAGTTGATTCATGA	0.403																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(1192-1194)agT>agA		thyrotropin-releasing hormone receptor							53.0	54.0	54.0					8																	110131681		2203	4299	6502	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131681T>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.1194T>A	8.37:g.110131681T>A	ENSP00000430711:p.Ser398Arg					TRHR_ENST00000311762.2_Missense_Mutation_p.S398R	p.S398R			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		3	1545	+			398					Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.1194T>A	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.648031	0.47258	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.66460	-0.21;-0.21	5.56	-2.17	0.07059	.	0.543305	0.21464	N	0.074109	T	0.49609	0.1567	L	0.29908	0.895	0.25695	N	0.985646	B	0.19583	0.037	B	0.20384	0.029	T	0.44922	-0.9296	10	0.54805	T	0.06	.	10.8084	0.46531	0.0:0.5945:0.0:0.4055	.	398	P34981	TRFR_HUMAN	R	398	ENSP00000430711:S398R;ENSP00000309818:S398R	ENSP00000309818:S398R	S	+	3	2	TRHR	110200857	0.964000	0.33143	0.991000	0.47740	0.960000	0.62799	0.051000	0.14141	-0.276000	0.09206	-0.334000	0.08254	AGT		0.403	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			12	80	0	0	0	1	0	12	80				
ZNF792	126375	broad.mit.edu	37	19	35448925	35448925	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:35448925G>C	ENST00000404801.1	-	4	2220	c.1834C>G	c.(1834-1836)Cag>Gag	p.Q612E	ZNF792_ENST00000605484.1_Missense_Mutation_p.Q545E	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACAGCGCCCTGATAAGGTCTG	0.488																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1834-1836)Cag>Gag		zinc finger protein 792							97.0	74.0	82.0					19																	35448925		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35448925G>C	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1834C>G	19.37:g.35448925G>C	ENSP00000385099:p.Gln612Glu					ZNF792_ENST00000605484.1_Missense_Mutation_p.Q545E	p.Q612E	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	2220	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		612					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.1834C>G	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.262793	0.00262	.	.	ENSG00000180884	ENST00000404801	T	0.05855	3.38	2.35	-2.77	0.05877	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43702	-0.9375	9	0.35671	T	0.21	.	4.9345	0.13934	0.0:0.4498:0.327:0.2233	.	612	Q3KQV3	ZN792_HUMAN	E	612	ENSP00000385099:Q612E	ENSP00000385099:Q612E	Q	-	1	0	ZNF792	40140765	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.674000	0.01949	-0.530000	0.06349	-0.226000	0.12346	CAG		0.488	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		10	17	0	0	0	1	0	10	17				
CNTN4	152330	broad.mit.edu	37	3	3076369	3076369	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr3:3076369G>A	ENST00000397461.1	+	16	2221	c.1837G>A	c.(1837-1839)Gct>Act	p.A613T	CNTN4_ENST00000427331.1_Missense_Mutation_p.A613T|CNTN4_ENST00000448906.2_Missense_Mutation_p.A285T|CNTN4_ENST00000397459.2_Missense_Mutation_p.A285T|CNTN4_ENST00000358480.3_Missense_Mutation_p.A394T|CNTN4_ENST00000418658.1_Missense_Mutation_p.A613T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	613	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGATACCACTGCTCAGCTCTC	0.552																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1837-1839)Gct>Act		contactin 4							100.0	82.0	88.0					3																	3076369		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3076369G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1837G>A	3.37:g.3076369G>A	ENSP00000380602:p.Ala613Thr					CNTN4_ENST00000427331.1_Missense_Mutation_p.A613T|CNTN4_ENST00000418658.1_Missense_Mutation_p.A613T|CNTN4_ENST00000397459.2_Missense_Mutation_p.A285T|CNTN4_ENST00000448906.2_Missense_Mutation_p.A285T|CNTN4_ENST00000358480.3_Missense_Mutation_p.A394T	p.A613T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	16	2221	+		Ovarian(110;0.156)	613			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1837G>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090610	0.94149	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49	4.27	4.27	0.50696	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76814	0.4040	M	0.90082	3.085	0.80722	D	1	D;P;D	0.69078	0.963;0.952;0.997	P;P;D	0.69479	0.835;0.869;0.964	T	0.83178	-0.0090	10	0.62326	D	0.03	.	17.0894	0.86618	0.0:0.0:1.0:0.0	.	612;613;613	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	T	613;613;613;394;285;285	ENSP00000396010:A613T;ENSP00000380602:A613T;ENSP00000413642:A613T;ENSP00000351267:A394T;ENSP00000380600:A285T;ENSP00000392077:A285T	ENSP00000351267:A394T	A	+	1	0	CNTN4	3051369	1.000000	0.71417	0.980000	0.43619	0.974000	0.67602	7.660000	0.83776	2.086000	0.62901	0.563000	0.77884	GCT		0.552	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			25	38	0	0	0	1	0	25	38				
CPA4	51200	broad.mit.edu	37	7	129950692	129950692	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr7:129950692G>C	ENST00000222482.4	+	9	887	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	CPA4_ENST00000445470.2_Missense_Mutation_p.E254Q|CPA4_ENST00000493259.1_Missense_Mutation_p.E183Q	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	287					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TTCGGAAGTGGAGGTGAAATC	0.493																																						ENST00000222482.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(859-861)Gag>Cag		carboxypeptidase A4							115.0	109.0	111.0					7																	129950692		2203	4300	6503	SO:0001583	missense	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129950692G>C	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.859G>C	7.37:g.129950692G>C	ENSP00000222482:p.Glu287Gln					CPA4_ENST00000493259.1_Missense_Mutation_p.E183Q|CPA4_ENST00000445470.2_Missense_Mutation_p.E254Q	p.E287Q	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN			9	887	+	Melanoma(18;0.0435)		287					B7Z576|Q86UY9	Missense_Mutation	SNP	ENST00000222482.4	37	c.859G>C	CCDS5818.1	.	.	.	.	.	.	.	.	.	.	G	34	5.365207	0.95877	.	.	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000538687;ENST00000493259	T;T;T	0.20069	2.1;2.1;2.1	6.07	6.07	0.98685	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78425	-0.2209	10	0.87932	D	0	.	19.6321	0.95713	0.0:0.0:1.0:0.0	.	254;287	B7Z576;Q9UI42	.;CBPA4_HUMAN	Q	254;287;92;183	ENSP00000412947:E254Q;ENSP00000222482:E287Q;ENSP00000419660:E183Q	ENSP00000222482:E287Q	E	+	1	0	CPA4	129737928	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.525000	0.98039	2.884000	0.98904	0.655000	0.94253	GAG		0.493	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		26	71	0	0	0	1	0	26	71				
DNM1P47	100216544	broad.mit.edu	37	15	102292797	102292797	+	RNA	SNP	C	C	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr15:102292797C>G	ENST00000561463.1	+	0	843									DNM1 pseudogene 47									p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597																																						ENST00000561463.1																			2	Substitution - Missense(2)	p.P129A(2)	urinary_tract(1)|lung(1)																																																0							g.chr15:102292797C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292797C>G														0	843	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	37	0	0	0	1	0	3	37				
TTLL6	284076	broad.mit.edu	37	17	46847315	46847315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:46847315G>A	ENST00000393382.3	-	14	2326	c.2185C>T	c.(2185-2187)Cag>Tag	p.Q729*	TTLL6_ENST00000433608.2_Nonsense_Mutation_p.Q422*	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGGGTCTGCTGCTTCTTGCAT	0.502																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(2185-2187)Cag>Tag		tubulin tyrosine ligase-like family, member 6							80.0	82.0	81.0					17																	46847315		2203	4300	6503	SO:0001587	stop_gained	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46847315G>A	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2185C>T	17.37:g.46847315G>A	ENSP00000377043:p.Gln729*					TTLL6_ENST00000433608.2_Nonsense_Mutation_p.Q422*	p.Q729*	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			14	2326	-			681						Nonsense_Mutation	SNP	ENST00000393382.3	37	c.2185C>T	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221674	0.95139	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.48	3.51	0.40186	.	7739.210000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.7123	0.34391	0.1036:0.0:0.8964:0.0	.	.	.	.	X	729;422;407;681	.	ENSP00000302547:Q422X	Q	-	1	0	TTLL6	44202314	0.051000	0.20477	0.010000	0.14722	0.004000	0.04260	2.395000	0.44459	1.250000	0.43966	-0.150000	0.13652	CAG		0.502	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		11	105	0	0	0	1	0	11	105				
SAMD4B	55095	broad.mit.edu	37	19	39868449	39868449	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:39868449C>T	ENST00000314471.6	+	10	2464	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R477W	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCAGTTTACACGGGTGATGGG	0.592																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(1429-1431)Cgg>Tgg		sterile alpha motif domain containing 4B							32.0	32.0	32.0					19																	39868449		2196	4283	6479	SO:0001583	missense	55095						protein binding	g.chr19:39868449C>T		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1429C>T	19.37:g.39868449C>T	ENSP00000317224:p.Arg477Trp					SAMD4B_ENST00000598913.1_Missense_Mutation_p.R477W|SAMD4B_ENST00000596368.1_Intron	p.R477W	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		10	2464	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		477					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1429C>T	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895525	0.72639	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.72	4.72	0.59763	Smaug, pseudo-HEAT analogous topology (1);	0.000000	0.85682	D	0.000000	T	0.75140	0.3809	M	0.72894	2.215	0.48185	D	0.999601	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.77427	-0.2592	9	0.87932	D	0	.	10.2994	0.43644	0.1966:0.8034:0.0:0.0	.	477;477	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	W	477	.	ENSP00000317224:R477W	R	+	1	2	SAMD4B	44560289	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	1.280000	0.33202	2.449000	0.82847	0.467000	0.42956	CGG		0.592	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		21	51	0	0	0	1	0	21	51				
MTR	4548	broad.mit.edu	37	1	237016332	237016332	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:237016332G>T	ENST00000366577.5	+	18	2291	c.1897G>T	c.(1897-1899)Gat>Tat	p.D633Y	MTR_ENST00000535889.1_Missense_Mutation_p.D633Y	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	633					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCTCTGTGAAGATCTCATCTG	0.438																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(1897-1899)Gat>Tat		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						128.0	126.0	127.0					1																	237016332		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237016332G>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1897G>T	1.37:g.237016332G>T	ENSP00000355536:p.Asp633Tyr					MTR_ENST00000535889.1_Missense_Mutation_p.D633Y	p.D633Y	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	18	2291	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	633					A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.1897G>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298221	0.81025	.	.	ENSG00000116984	ENST00000366577;ENST00000535889;ENST00000366576	D;D;D	0.88586	-2.4;-2.4;-2.4	5.43	5.43	0.79202	Dihydropteroate synthase-like (1);Pterin-binding (1);	0.046744	0.85682	D	0.000000	D	0.95389	0.8503	M	0.93978	3.48	0.47698	D	0.999496	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	D	0.95805	0.8836	10	0.87932	D	0	-22.7568	13.1191	0.59316	0.0826:0.0:0.9174:0.0	.	633;633	B7ZLW7;Q99707	.;METH_HUMAN	Y	633;633;187	ENSP00000355536:D633Y;ENSP00000441845:D633Y;ENSP00000355535:D187Y	ENSP00000355535:D187Y	D	+	1	0	MTR	235082955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.431000	0.66507	2.830000	0.97506	0.655000	0.94253	GAT		0.438	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		14	46	1	0	0.000219431	1	0.000232091	14	46				
WDR43	23160	broad.mit.edu	37	2	29158461	29158461	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr2:29158461G>A	ENST00000407426.3	+	12	1568	c.1512G>A	c.(1510-1512)ccG>ccA	p.P504P		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	504						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					CTATTATTCCGTTGTTACAAG	0.323																																						ENST00000407426.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20						c.(1510-1512)ccG>ccA		WD repeat domain 43							109.0	100.0	103.0					2																	29158461		1835	4081	5916	SO:0001819	synonymous_variant	23160					nucleolus		g.chr2:29158461G>A	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1512G>A	2.37:g.29158461G>A							p.P504P	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN			12	1568	+	Acute lymphoblastic leukemia(172;0.155)		504					Q15395|Q92577	Silent	SNP	ENST00000407426.3	37	c.1512G>A	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	G	2.738	-0.262934	0.05754	.	.	ENSG00000163811	ENST00000446643	.	.	.	5.53	-1.65	0.08291	.	.	.	.	.	T	0.39462	0.1079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30238	-0.9985	4	.	.	.	-13.307	1.2759	0.02030	0.4047:0.2509:0.2229:0.1215	.	.	.	.	H	56	.	.	R	+	2	0	WDR43	29011965	0.315000	0.24571	0.991000	0.47740	0.322000	0.28314	-0.247000	0.08866	-0.091000	0.12440	-0.340000	0.08031	CGT		0.323	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		12	31	0	0	0	1	0	12	31				
WDR72	256764	broad.mit.edu	37	15	53889416	53889416	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr15:53889416C>A	ENST00000396328.1	-	18	3247	c.3008G>T	c.(3007-3009)aGt>aTt	p.S1003I	WDR72_ENST00000360509.5_Missense_Mutation_p.S1003I|WDR72_ENST00000559418.1_Missense_Mutation_p.S1013I|WDR72_ENST00000557913.1_Missense_Mutation_p.S1000I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1003										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTTCCCAAACTCTTCATGTG	0.388																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(3007-3009)aGt>aTt		WD repeat domain 72							232.0	210.0	218.0					15																	53889416		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53889416C>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3008G>T	15.37:g.53889416C>A	ENSP00000379619:p.Ser1003Ile					WDR72_ENST00000557913.1_Missense_Mutation_p.S1000I|WDR72_ENST00000360509.5_Missense_Mutation_p.S1003I|WDR72_ENST00000559418.1_Missense_Mutation_p.S1013I	p.S1003I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	18	3247	-			1003					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.3008G>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461699	0.26248	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.38077	1.16;1.16	6.04	2.05	0.26809	.	0.507607	0.21027	N	0.081412	T	0.20170	0.0485	L	0.29908	0.895	0.09310	N	1	P	0.35383	0.498	B	0.27500	0.08	T	0.13388	-1.0511	10	0.66056	D	0.02	.	5.2309	0.15422	0.0801:0.3357:0.466:0.1183	.	1003	Q3MJ13	WDR72_HUMAN	I	1003	ENSP00000379619:S1003I;ENSP00000353699:S1003I	ENSP00000353699:S1003I	S	-	2	0	WDR72	51676708	0.964000	0.33143	0.003000	0.11579	0.553000	0.35397	1.033000	0.30191	0.130000	0.18549	-0.344000	0.07964	AGT		0.388	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		15	67	1	0	5.01169e-05	1	5.45828e-05	15	67				
RP11-24M17.5	0	broad.mit.edu	37	15	76074504	76074504	+	RNA	SNP	C	C	T	rs146281026	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr15:76074504C>T	ENST00000395215.3	+	0	683				RN7SL319P_ENST00000480656.2_RNA																							TGAACGCACACGTGACACAGG	0.572													.|||	95	0.0189696	0.0121	0.0159	5008	,	,		16950	0.0635		0.001	False		,,,				2504	0.0031					ENST00000395215.3																			0																																																			0							g.chr15:76074504C>T																													15.37:g.76074504C>T														0	683	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.572	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			3	30	0	0	0	1	0	3	30				
KCNJ12	3768	broad.mit.edu	37	17	21319329	21319329	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:21319329G>A	ENST00000583088.1	+	3	1570	c.675G>A	c.(673-675)gaG>gaA	p.E225E	KCNJ12_ENST00000331718.5_Silent_p.E225E	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	225					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)	ACATTGTGGAGGCCCATGTGC	0.642										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(673-675)gaG>gaA		potassium inwardly-rectifying channel, subfamily J, member 12							86.0	70.0	75.0					17																	21319329		2203	4300	6503	SO:0001819	synonymous_variant	3768							g.chr17:21319329G>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.675G>A	17.37:g.21319329G>A		Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Silent_p.E225E	p.E225E	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1570	+								O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.675G>A	CCDS11219.1																																																																																				0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	84	0	0	0	1	0	4	84				
OR10J5	127385	broad.mit.edu	37	1	159505384	159505384	+	Silent	SNP	C	C	T	rs551006359	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:159505384C>T	ENST00000334857.2	-	1	458	c.414G>A	c.(412-414)aaG>aaA	p.K138K		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CACATAGTCCCTTGCTCATGA	0.502																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(412-414)aaG>aaA		olfactory receptor, family 10, subfamily J, member 5							138.0	106.0	117.0					1																	159505384		2203	4300	6503	SO:0001819	synonymous_variant	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505384C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.414G>A	1.37:g.159505384C>T							p.K138K	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	458	-	all_hematologic(112;0.0429)		138					B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	c.414G>A	CCDS30910.1																																																																																				0.502	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		4	85	0	0	0	1	0	4	85				
STAB2	55576	broad.mit.edu	37	12	104155079	104155079	+	Splice_Site	SNP	C	C	T	rs529403514		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:104155079C>T	ENST00000388887.2	+	66	7454	c.7250C>T	c.(7249-7251)aCg>aTg	p.T2417M	RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.T2417M(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTCCCTAGACGGAGACCAGG	0.512																																						ENST00000388887.2																			1	Substitution - Missense(1)	p.T2417M(1)	ovary(1)	NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.e66-1		stabilin 2							143.0	123.0	130.0					12																	104155079		2203	4300	6503	SO:0001630	splice_region_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104155079C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7249-1C>T	12.37:g.104155079C>T						RP11-341G23.4_ENST00000551299.1_RNA	p.T2417_splice	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			66	7454	+			2417			FAS1 7.			Splice_Site	SNP	ENST00000388887.2	37	c.7248_splice	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	4.164	0.028883	0.08054	.	.	ENSG00000136011	ENST00000388887	D	0.90676	-2.71	3.45	2.26	0.28386	FAS1 domain (4);	1.025530	0.07768	U	0.951213	D	0.83580	0.5285	L	0.29908	0.895	0.27552	N	0.950459	B	0.27380	0.177	B	0.19391	0.025	T	0.71417	-0.4599	10	0.46703	T	0.11	.	6.6327	0.22865	0.4311:0.4749:0.094:0.0	.	2417	Q8WWQ8	STAB2_HUMAN	M	2417	ENSP00000373539:T2417M	ENSP00000373539:T2417M	T	+	2	0	STAB2	102679209	0.100000	0.21855	0.884000	0.34674	0.300000	0.27592	0.113000	0.15499	0.229000	0.21039	-0.266000	0.10368	ACG		0.512	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		Missense_Mutation	7	33	0	0	0	1	0	7	33				
TMEM125	128218	broad.mit.edu	37	1	43738488	43738488	+	Missense_Mutation	SNP	G	G	A	rs200069787	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:43738488G>A	ENST00000432792.2	+	4	665	c.95G>A	c.(94-96)cGg>cAg	p.R32Q	TMEM125_ENST00000439858.1_Missense_Mutation_p.R32Q			Q96AQ2	TM125_HUMAN	transmembrane protein 125	32						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGCAGCCGCGGCGCTCGGCG	0.711													G|||	3	0.000599042	0.0023	0.0	5008	,	,		14457	0.0		0.0	False		,,,				2504	0.0					ENST00000432792.2																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(94-96)cGg>cAg		transmembrane protein 125		G	GLN/ARG	4,4316		0,4,2156	8.0	10.0	9.0		95	4.9	0.9	1		9	0,8424		0,0,4212	yes	missense	TMEM125	NM_144626.2	43	0,4,6368	AA,AG,GG		0.0,0.0926,0.0314	probably-damaging	32/220	43738488	4,12740	2160	4212	6372	SO:0001583	missense	128218					integral to membrane		g.chr1:43738488G>A	BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178			28275	protein-coding gene	gene with protein product							Standard	NM_144626		Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.95G>A	1.37:g.43738488G>A	ENSP00000429275:p.Arg32Gln					TMEM125_ENST00000439858.1_Missense_Mutation_p.R32Q	p.R32Q			Q96AQ2	TM125_HUMAN			4	665	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	32					D3DPX1	Missense_Mutation	SNP	ENST00000432792.2	37	c.95G>A	CCDS480.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650715	0.67472	9.26E-4	0.0	ENSG00000179178	ENST00000439858;ENST00000432792	T;T	0.46819	0.86;0.86	4.9	4.9	0.64082	.	0.396731	0.24806	N	0.035453	T	0.52901	0.1763	L	0.46157	1.445	0.21290	N	0.999732	D	0.76494	0.999	P	0.60345	0.873	T	0.46569	-0.9182	10	0.45353	T	0.12	.	7.2772	0.26292	0.0931:0.0:0.7376:0.1693	.	32	Q96AQ2	TM125_HUMAN	Q	32	ENSP00000429775:R32Q;ENSP00000429275:R32Q	ENSP00000429275:R32Q	R	+	2	0	TMEM125	43511075	0.253000	0.23982	0.893000	0.35052	0.647000	0.38526	2.421000	0.44688	2.247000	0.74100	0.462000	0.41574	CGG		0.711	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019032.2	NM_144626		3	13	0	0	0	1	0	3	13				
GABRA1	2554	broad.mit.edu	37	5	161318010	161318010	+	Silent	SNP	C	C	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:161318010C>G	ENST00000428797.2	+	9	1165	c.810C>G	c.(808-810)gtC>gtG	p.V270V	GABRA1_ENST00000437025.2_Silent_p.V270V|GABRA1_ENST00000420560.1_Silent_p.V270V|GABRA1_ENST00000023897.6_Silent_p.V270V|GABRA1_ENST00000393943.4_Silent_p.V270V|GABRA1_ENST00000444819.1_Silent_p.V270V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	270					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTCACAAGTCTCCTTCTGGC	0.408																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(808-810)gtC>gtG		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						133.0	127.0	129.0					5																	161318010		2203	4300	6503	SO:0001819	synonymous_variant	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161318010C>G		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.810C>G	5.37:g.161318010C>G						GABRA1_ENST00000023897.6_Silent_p.V270V|GABRA1_ENST00000437025.2_Silent_p.V270V|GABRA1_ENST00000420560.1_Silent_p.V270V|GABRA1_ENST00000444819.1_Silent_p.V270V|GABRA1_ENST00000393943.4_Silent_p.V270V	p.V270V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	9	1165	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	270					D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	37	c.810C>G	CCDS4357.1																																																																																				0.408	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		61	10	0	0	0	1	0	61	10				
SSTR4	6754	broad.mit.edu	37	20	23016994	23016994	+	Missense_Mutation	SNP	G	G	A	rs563434094		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:23016994G>A	ENST00000255008.3	+	1	938	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	292					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGATGCCACCGTCAACCACGT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18575	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(874-876)Gtc>Atc		somatostatin receptor 4							207.0	207.0	207.0					20																	23016994		2203	4300	6503	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016994G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.874G>A	20.37:g.23016994G>A	ENSP00000255008:p.Val292Ile					RP4-753D10.3_ENST00000440921.1_RNA	p.V292I	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	938	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		292					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.874G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	0.554	-0.848060	0.02651	.	.	ENSG00000132671	ENST00000255008	T	0.37058	1.22	3.36	-1.03	0.10102	GPCR, rhodopsin-like superfamily (1);	0.356618	0.22175	N	0.063583	T	0.19565	0.0470	N	0.21324	0.655	0.09310	N	1	B	0.18610	0.029	B	0.17098	0.017	T	0.14615	-1.0466	10	0.29301	T	0.29	.	7.6428	0.28303	0.5113:0.0:0.4887:0.0	.	292	P31391	SSR4_HUMAN	I	292	ENSP00000255008:V292I	ENSP00000255008:V292I	V	+	1	0	SSTR4	22964994	0.006000	0.16342	0.176000	0.23000	0.176000	0.22953	0.357000	0.20199	-0.449000	0.07117	-0.742000	0.03525	GTC		0.567	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			46	21	0	0	0	1	0	46	21				
TTLL6	284076	broad.mit.edu	37	17	46847428	46847428	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:46847428G>A	ENST00000393382.3	-	14	2213	c.2072C>T	c.(2071-2073)tCc>tTc	p.S691F	TTLL6_ENST00000433608.2_Missense_Mutation_p.S384F	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TTGGGTGGTGGATTCTGGGGT	0.498																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(2071-2073)tCc>tTc		tubulin tyrosine ligase-like family, member 6							67.0	74.0	72.0					17																	46847428		2202	4300	6502	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46847428G>A	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2072C>T	17.37:g.46847428G>A	ENSP00000377043:p.Ser691Phe					TTLL6_ENST00000433608.2_Missense_Mutation_p.S384F	p.S691F	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			14	2213	-			643						Missense_Mutation	SNP	ENST00000393382.3	37	c.2072C>T	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	9.377	1.071928	0.20147	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.27	1.04	0.20106	.	7739.210000	0.00166	N	0.000000	T	0.45337	0.1337	L	0.56769	1.78	0.09310	N	1	B;B	0.14012	0.003;0.009	B;B	0.16722	0.003;0.016	T	0.20874	-1.0262	9	0.49607	T	0.09	.	4.1536	0.10249	0.1998:0.0:0.6198:0.1804	.	643;384	Q8N841;G5E937	TTLL6_HUMAN;.	F	691;384;369;643	.	ENSP00000302547:S384F	S	-	2	0	TTLL6	44202427	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.073000	0.14640	0.174000	0.19809	0.591000	0.81541	TCC		0.498	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		11	88	0	0	0	1	0	11	88				
FOXR2	139628	broad.mit.edu	37	X	55650343	55650343	+	Missense_Mutation	SNP	C	C	A	rs142979047	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chrX:55650343C>A	ENST00000339140.3	+	1	511	c.199C>A	c.(199-201)Cct>Act	p.P67T		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	67					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGACCCAGTCCTGATGGAGA	0.552																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(199-201)Cct>Act		forkhead box R2							88.0	80.0	83.0					X																	55650343		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650343C>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.199C>A	X.37:g.55650343C>A	ENSP00000427329:p.Pro67Thr						p.P67T	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	511	+			67						Missense_Mutation	SNP	ENST00000339140.3	37	c.199C>A	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	C	9.328	1.059750	0.19987	.	.	ENSG00000189299	ENST00000339140	D	0.93953	-3.32	3.56	0.516	0.17019	.	14.661200	0.00166	U	0.000005	D	0.90363	0.6984	L	0.58810	1.83	0.09310	N	1	B	0.33883	0.43	B	0.30105	0.111	T	0.76777	-0.2834	10	0.52906	T	0.07	.	3.5049	0.07686	0.4439:0.422:0.0:0.1341	.	67	Q6PJQ5	FOXR2_HUMAN	T	67	ENSP00000427329:P67T	ENSP00000427329:P67T	P	+	1	0	FOXR2	55667068	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.952000	0.03881	-0.013000	0.14199	0.600000	0.82982	CCT		0.552	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		25	36	1	0	1.1804e-14	1	1.36677e-14	25	36				
ZNF384	171017	broad.mit.edu	37	12	6787485	6787485	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:6787485G>C	ENST00000396801.3	-	6	701	c.494C>G	c.(493-495)tCc>tGc	p.S165C	ZNF384_ENST00000396795.1_Missense_Mutation_p.S165C|ZNF384_ENST00000396799.2_Missense_Mutation_p.S165C|ZNF384_ENST00000361959.3_Missense_Mutation_p.S165C|ZNF384_ENST00000355772.4_Missense_Mutation_p.S110C|ZNF384_ENST00000319770.3_Missense_Mutation_p.S149C	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	165					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TACCTTCTTGGAGAGGTCAGG	0.607			T	"""EWSR1, TAF15 """	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"""EWSR1, TAF15 """		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(493-495)tCc>tGc		zinc finger protein 384							60.0	56.0	57.0					12																	6787485		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6787485G>C	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.494C>G	12.37:g.6787485G>C	ENSP00000380019:p.Ser165Cys					ZNF384_ENST00000319770.3_Missense_Mutation_p.S149C|ZNF384_ENST00000396799.2_Missense_Mutation_p.S165C|ZNF384_ENST00000396801.3_Missense_Mutation_p.S165C|ZNF384_ENST00000361959.3_Missense_Mutation_p.S165C|ZNF384_ENST00000355772.4_Missense_Mutation_p.S110C	p.S165C			Q8TF68	ZN384_HUMAN			5	991	-			165					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.494C>G	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914328	0.72983	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485	T;T;T;T;T;T;T	0.09255	3.08;3.05;3.0;3.0;3.08;3.05;3.42	5.47	5.47	0.80525	.	0.253853	0.32287	N	0.006303	T	0.17238	0.0414	N	0.14661	0.345	0.49687	D	0.999815	D;D;D;D;D	0.69078	0.997;0.964;0.995;0.986;0.995	P;D;P;P;P	0.63703	0.864;0.917;0.871;0.794;0.794	T	0.10109	-1.0644	10	0.38643	T	0.18	-11.2475	17.4978	0.87723	0.0:0.0:1.0:0.0	.	165;165;110;149;165	Q8TF68;E9PHB3;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.;.	C	149;165;165;165;110;165;165;149;149;165;149	ENSP00000321650:S149C;ENSP00000380013:S165C;ENSP00000380019:S165C;ENSP00000354592:S165C;ENSP00000348018:S110C;ENSP00000380017:S165C;ENSP00000412911:S149C	ENSP00000321650:S149C	S	-	2	0	ZNF384	6657746	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.091000	0.71406	2.560000	0.86352	0.591000	0.81541	TCC		0.607	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			24	20	0	0	0	1	0	24	20				
FAM86EP	348926	broad.mit.edu	37	4	3952901	3952901	+	RNA	SNP	A	A	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:3952901A>T	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		CACCGGGCATACTTGACTGAC	0.552																																						ENST00000281228.8																			0																																																			0							g.chr4:3952901A>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3952901A>T						FAM86EP_ENST00000313946.8_RNA								0	206	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.552	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			4	53	0	0	0	1	0	4	53				
MATR3	9782	broad.mit.edu	37	5	138643467	138643467	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:138643467C>G	ENST00000394805.3	+	2	698	c.363C>G	c.(361-363)gaC>gaG	p.D121E	MATR3_ENST00000502929.1_Missense_Mutation_p.D121E|MATR3_ENST00000509990.1_Missense_Mutation_p.D121E|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.D121E|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394800.2_Missense_Mutation_p.D121E|MATR3_ENST00000510056.1_Missense_Mutation_p.D121E	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	121					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGCTAGAGACTTAGATGAAC	0.463																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(361-363)gaC>gaG		matrin 3							63.0	59.0	60.0					5																	138643467		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138643467C>G	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.363C>G	5.37:g.138643467C>G	ENSP00000378284:p.Asp121Glu					MATR3_ENST00000361059.2_Missense_Mutation_p.D121E|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.D121E|MATR3_ENST00000509990.1_Missense_Mutation_p.D121E|MATR3_ENST00000394805.3_Missense_Mutation_p.D121E|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.D121E|MATR3_ENST00000504203.1_Intron	p.D121E			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	912	+			121					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.363C>G	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160557	0.57368	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056	D;D;D;D;D;D;D	0.90788	-2.63;-2.63;-2.61;-2.61;-2.63;-2.73;-2.71	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	L	0.32530	0.975	0.45490	D	0.998452	D;P;D	0.58970	0.984;0.841;0.984	D;P;D	0.67548	0.952;0.846;0.952	D	0.92198	0.5765	10	0.87932	D	0	-9.0925	13.1451	0.59456	0.0:0.9268:0.0:0.0732	.	121;121;121	D6REM6;A8MXP9;P43243	.;.;MATR3_HUMAN	E	121	ENSP00000423533:D121E;ENSP00000354346:D121E;ENSP00000422319:D121E;ENSP00000378279:D121E;ENSP00000378284:D121E;ENSP00000423290:D121E;ENSP00000426743:D121E	ENSP00000354346:D121E	D	+	3	2	MATR3	138671366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.250000	0.51445	2.706000	0.92434	0.585000	0.79938	GAC		0.463	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		9	52	0	0	0	1	0	9	52				
UGDH	7358	broad.mit.edu	37	4	39506922	39506922	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:39506922G>C	ENST00000316423.6	-	9	1448	c.1106C>G	c.(1105-1107)cCa>cGa	p.P369R	UGDH_ENST00000507089.1_Missense_Mutation_p.P272R|UGDH_ENST00000506179.1_Missense_Mutation_p.P369R|UGDH_ENST00000501493.2_Missense_Mutation_p.P302R	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	369					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						AGGTACTTTTGGATCATATAT	0.348																																						ENST00000316423.6																			0				breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(1105-1107)cCa>cGa		UDP-glucose 6-dehydrogenase	NADH(DB00157)						109.0	108.0	108.0					4																	39506922		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39506922G>C	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.1106C>G	4.37:g.39506922G>C	ENSP00000319501:p.Pro369Arg					UGDH_ENST00000507089.1_Missense_Mutation_p.P272R|UGDH_ENST00000506179.1_Missense_Mutation_p.P369R|UGDH_ENST00000501493.2_Missense_Mutation_p.P302R	p.P369R	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			9	1448	-			369					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.1106C>G	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717256	0.89205	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	6.03	6.03	0.97812	UDP-glucose/GDP-mannose dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98968	1.0800	10	0.87932	D	0	0.6395	19.5548	0.95338	0.0:0.0:1.0:0.0	.	302;369	B3KUU2;O60701	.;UGDH_HUMAN	R	369;302;369;272	ENSP00000319501:P369R;ENSP00000422909:P302R;ENSP00000421757:P369R;ENSP00000426560:P272R	ENSP00000319501:P369R	P	-	2	0	UGDH	39183317	1.000000	0.71417	0.967000	0.41034	0.991000	0.79684	9.128000	0.94424	2.854000	0.98071	0.655000	0.94253	CCA		0.348	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		11	37	0	0	0	1	0	11	37				
SYT15	83849	broad.mit.edu	37	10	46964009	46964009	+	Silent	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:46964009G>C	ENST00000374321.4	-	7	1020	c.954C>G	c.(952-954)gtC>gtG	p.V318V	SYT15_ENST00000374325.3_Silent_p.V318V|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Silent_p.V318V|SYT15_ENST00000374323.4_Silent_p.V371V|SYT15_ENST00000449358.2_5'Flank	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	318	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GAGACACTTTGACAAACACAC	0.562																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(1111-1113)gtC>gtG		synaptotagmin XV							103.0	105.0	104.0					10																	46964009		2078	4209	6287	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46964009G>C	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.954C>G	10.37:g.46964009G>C						SYT15_ENST00000374325.3_Silent_p.V318V|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Silent_p.V318V|SYT15_ENST00000503753.1_Silent_p.V318V	p.V371V			Q9BQS2	SYT15_HUMAN			6	1700	-			318			C2 2.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.1113C>G	CCDS44376.1																																																																																				0.562	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		19	152	0	0	0	1	0	19	152				
PROKR2	128674	broad.mit.edu	37	20	5282948	5282948	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:5282948C>T	ENST00000217270.3	-	2	892	c.893G>A	c.(892-894)cGt>cAt	p.R298H	PROKR2_ENST00000546004.1_Missense_Mutation_p.R298H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	298					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAAGAAGTCACGAACGATGGT	0.562										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(892-894)cGt>cAt		prokineticin receptor 2							160.0	119.0	133.0					20																	5282948		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5282948C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.893G>A	20.37:g.5282948C>T	ENSP00000217270:p.Arg298His	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.R298H	p.R298H			Q8NFJ6	PKR2_HUMAN			3	1139	-			298					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.893G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842118	0.91197	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.72505	-0.66;-0.66	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82356	0.5019	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79162	-0.1917	10	0.13108	T	0.6	.	15.9064	0.79433	0.0:1.0:0.0:0.0	.	298	Q8NFJ6	PKR2_HUMAN	H	298	ENSP00000440790:R298H;ENSP00000217270:R298H	ENSP00000217270:R298H	R	-	2	0	PROKR2	5230948	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.346000	0.79347	2.370000	0.80446	0.655000	0.94253	CGT		0.562	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		42	22	0	0	0	1	0	42	22				
AKR1E2	83592	broad.mit.edu	37	10	4877922	4877922	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:4877922A>T	ENST00000298375.7	+	4	451	c.380A>T	c.(379-381)cAt>cTt	p.H127L	AKR1E2_ENST00000532248.1_Missense_Mutation_p.H127L|AKR1E2_ENST00000345253.5_Missense_Mutation_p.H127L|AKR1E2_ENST00000334019.4_Missense_Mutation_p.H127L|AKR1E2_ENST00000525281.1_3'UTR	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	127						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TGCCTCTCACATCCTCGAGTG	0.512																																					NSCLC(43;343 1097 20371 28813 45509)	ENST00000298375.7																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						c.(379-381)cAt>cTt		aldo-keto reductase family 1, member E2							118.0	90.0	99.0					10																	4877922		2203	4300	6503	SO:0001583	missense	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4877922A>T	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.380A>T	10.37:g.4877922A>T	ENSP00000298375:p.His127Leu					AKR1E2_ENST00000345253.5_Missense_Mutation_p.H127L|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000532248.1_Missense_Mutation_p.H127L|AKR1E2_ENST00000334019.4_Missense_Mutation_p.H127L	p.H127L	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN			4	451	+			127					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	ENST00000298375.7	37	c.380A>T	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542749	0.45280	.	.	ENSG00000165568	ENST00000462718;ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.30182	2.13;1.54;1.83;1.93;2.3	4.12	4.12	0.48240	NADP-dependent oxidoreductase domain (3);	2.153450	0.02304	N	0.071467	T	0.30978	0.0782	N	0.02539	-0.55	0.30370	N	0.782996	D;B;B;B;B	0.89917	1.0;0.056;0.056;0.069;0.056	D;B;B;B;B	0.97110	1.0;0.021;0.021;0.036;0.021	T	0.51268	-0.8727	10	0.13470	T	0.59	.	9.7991	0.40753	1.0:0.0:0.0:0.0	.	88;127;127;127;127	B7Z7K2;Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;.;AKCL2_HUMAN;.	L	23;131;127;127;127;127	ENSP00000435436:H131L;ENSP00000298375:H127L;ENSP00000432947:H127L;ENSP00000335034:H127L;ENSP00000335603:H127L	ENSP00000298375:H127L	H	+	2	0	AKR1E2	4867922	1.000000	0.71417	0.342000	0.25602	0.032000	0.12392	4.487000	0.60293	2.081000	0.62600	0.459000	0.35465	CAT		0.512	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		4	55	0	0	0	1	0	4	55				
USP42	84132	broad.mit.edu	37	7	6175578	6175578	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr7:6175578G>A	ENST00000306177.5	+	4	707	c.549G>A	c.(547-549)atG>atA	p.M183I		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	183	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)		TCAATGAGATGCGGCGTAAGT	0.348																																						ENST00000306177.5																			0				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						c.(547-549)atG>atA		ubiquitin specific peptidase 42							115.0	102.0	106.0					7																	6175578		1848	4093	5941	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6175578G>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.549G>A	7.37:g.6175578G>A	ENSP00000301962:p.Met183Ile						p.M183I	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	4	707	+		Ovarian(82;0.0423)	183					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.549G>A	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948670	0.53186	.	.	ENSG00000106346	ENST00000306177;ENST00000465073;ENST00000426246	T;T;T	0.25579	1.79;1.79;1.79	5.19	3.26	0.37387	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.082650	0.52532	D	0.000062	T	0.12902	0.0313	N	0.03930	-0.32	0.34585	D	0.714837	B;B;B	0.33777	0.371;0.425;0.425	B;B;B	0.40256	0.217;0.324;0.324	T	0.09907	-1.0653	10	0.62326	D	0.03	.	7.2796	0.26304	0.0:0.2533:0.4817:0.265	.	183;183;183	Q9H9J4-2;Q9H9J4;A4D2N6	.;UBP42_HUMAN;.	I	183;116;29	ENSP00000301962:M183I;ENSP00000430568:M116I;ENSP00000408217:M29I	ENSP00000301962:M183I	M	+	3	0	USP42	6142104	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.781000	0.26774	2.578000	0.87016	0.467000	0.42956	ATG		0.348	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		8	12	0	0	0	1	0	8	12				
CCR7	1236	broad.mit.edu	37	17	38711153	38711153	+	Silent	SNP	G	G	A	rs577434759		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:38711153G>A	ENST00000246657.2	-	3	1040	c.978C>T	c.(976-978)taC>taT	p.Y326Y	CCR7_ENST00000579344.1_Silent_p.Y320Y	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	326					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CGATGAAGGCGTACAAGAAAG	0.587													g|||	1	0.000199681	0.0008	0.0	5008	,	,		23147	0.0		0.0	False		,,,				2504	0.0					ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(976-978)taC>taT		chemokine (C-C motif) receptor 7							170.0	138.0	149.0					17																	38711153		2203	4300	6503	SO:0001819	synonymous_variant	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711153G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.978C>T	17.37:g.38711153G>A						CCR7_ENST00000579344.1_Silent_p.Y320Y	p.Y326Y	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	1040	-		Breast(137;0.000496)	326						Silent	SNP	ENST00000246657.2	37	c.978C>T	CCDS11369.1																																																																																				0.587	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			14	45	0	0	0	1	0	14	45				
PTPRD	5789	broad.mit.edu	37	9	8331734	8331734	+	Silent	SNP	G	G	A	rs143526425	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr9:8331734G>A	ENST00000381196.4	-	41	5925	c.5382C>T	c.(5380-5382)gaC>gaT	p.D1794D	PTPRD_ENST00000397617.3_Silent_p.D1387D|PTPRD_ENST00000397606.3_Silent_p.D1387D|PTPRD_ENST00000356435.5_Silent_p.D1794D|PTPRD_ENST00000540109.1_Silent_p.D1794D|PTPRD_ENST00000397611.3_Silent_p.D1384D|PTPRD_ENST00000537002.1_Silent_p.D1384D|PTPRD_ENST00000360074.4_Silent_p.D1781D|PTPRD_ENST00000358503.5_Silent_p.D1772D|PTPRD_ENST00000355233.5_Silent_p.D1388D|PTPRD_ENST00000486161.1_Silent_p.D1387D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1794	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGACTGGCCGTCCTTTAGAA	0.512										TSP Lung(15;0.13)			G|||	4	0.000798722	0.003	0.0	5008	,	,		16318	0.0		0.0	False		,,,				2504	0.0					ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5380-5382)gaC>gaT		protein tyrosine phosphatase, receptor type, D		G	,,,,,	10,4396	16.8+/-37.8	0,10,2193	70.0	68.0	69.0		4152,4161,5382,4161,4164,4134	1.5	1.0	9	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	,,,,,	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	,,,,,	1384/1503,1387/1506,1794/1913,1387/1506,1388/1507,1378/1497	8331734	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8331734G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5382C>T	9.37:g.8331734G>A		TSP Lung(15;0.13)				PTPRD_ENST00000355233.5_Silent_p.D1388D|PTPRD_ENST00000397606.3_Silent_p.D1387D|PTPRD_ENST00000537002.1_Silent_p.D1384D|PTPRD_ENST00000397611.3_Silent_p.D1384D|PTPRD_ENST00000358503.5_Silent_p.D1772D|PTPRD_ENST00000540109.1_Silent_p.D1794D|PTPRD_ENST00000360074.4_Silent_p.D1781D|PTPRD_ENST00000397617.3_Silent_p.D1387D|PTPRD_ENST00000486161.1_Silent_p.D1387D|PTPRD_ENST00000356435.5_Silent_p.D1794D	p.D1794D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	41	5925	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1794			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.5382C>T	CCDS43786.1																																																																																				0.512	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			13	32	0	0	0	1	0	13	32				
TEX2	55852	broad.mit.edu	37	17	62272447	62272447	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:62272447C>A	ENST00000583097.1	-	3	1825	c.1653G>T	c.(1651-1653)atG>atT	p.M551I	TEX2_ENST00000584379.1_Missense_Mutation_p.M551I|TEX2_ENST00000258991.3_Missense_Mutation_p.M551I			Q8IWB9	TEX2_HUMAN	testis expressed 2	551					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AAATCTCATTCATCCATCCCT	0.383																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1651-1653)atG>atT		testis expressed 2							67.0	60.0	63.0					17																	62272447		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62272447C>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1653G>T	17.37:g.62272447C>A	ENSP00000462665:p.Met551Ile					TEX2_ENST00000583097.1_Missense_Mutation_p.M551I|TEX2_ENST00000584379.1_Missense_Mutation_p.M551I	p.M551I			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	3	1737	-			551					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.1653G>T		.	.	.	.	.	.	.	.	.	.	C	16.58	3.162809	0.57368	.	.	ENSG00000136478	ENST00000258991	T	0.57107	0.42	6.07	6.07	0.98685	Pleckstrin homology domain (1);	0.038568	0.85682	D	0.000000	T	0.74574	0.3734	M	0.77313	2.365	0.80722	D	1	D;D	0.62365	0.991;0.99	D;D	0.66497	0.944;0.943	T	0.75181	-0.3408	10	0.72032	D	0.01	-23.4724	20.6593	0.99626	0.0:1.0:0.0:0.0	.	551;551	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	I	551	ENSP00000258991:M551I	ENSP00000258991:M551I	M	-	3	0	TEX2	59626179	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.381000	0.79718	2.885000	0.99019	0.655000	0.94253	ATG		0.383	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		6	56	1	0	5.9392e-07	1	6.66645e-07	6	56				
MAG	4099	broad.mit.edu	37	19	35791110	35791110	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:35791110G>T	ENST00000392213.3	+	6	932	c.773G>T	c.(772-774)aGc>aTc	p.S258I	MAG_ENST00000537831.2_Missense_Mutation_p.S233I|MAG_ENST00000361922.4_Missense_Mutation_p.S258I	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	258	Ig-like C2-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCCCACGTGAGCCTGCTCTGT	0.677																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(772-774)aGc>aTc		myelin associated glycoprotein							21.0	20.0	20.0					19																	35791110		2203	4298	6501	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35791110G>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.773G>T	19.37:g.35791110G>T	ENSP00000376048:p.Ser258Ile					MAG_ENST00000392213.3_Missense_Mutation_p.S258I|MAG_ENST00000537831.2_Missense_Mutation_p.S233I	p.S258I	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	923	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	258			Ig-like C2-type 2.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.773G>T	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	g	6.458	0.452597	0.12283	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.68181	-0.31;-0.31;-0.31	4.31	3.28	0.37604	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.444524	0.25654	N	0.029191	T	0.46833	0.1413	L	0.37561	1.115	0.27440	N	0.953747	B;B;P	0.35656	0.259;0.043;0.514	B;B;B	0.28553	0.066;0.023;0.091	T	0.35375	-0.9791	10	0.32370	T	0.25	.	4.9506	0.14011	0.1087:0.0:0.6816:0.2097	.	295;258;258	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	I	295;258;258;233	ENSP00000355234:S258I;ENSP00000376048:S258I;ENSP00000440695:S233I	ENSP00000262624:S295I	S	+	2	0	MAG	40482950	1.000000	0.71417	0.859000	0.33776	0.067000	0.16453	2.542000	0.45744	1.031000	0.39867	0.457000	0.33378	AGC		0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		7	9	1	0	0.00198382	1	0.00202056	7	9				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			6	91	0	0	0	1	0	6	91				
PPP2R2D	55844	broad.mit.edu	37	10	133758848	133758848	+	Silent	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:133758848C>A	ENST00000422256.2	+	4	509	c.24C>A	c.(22-24)atC>atA	p.I8I	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	235	Poly-Gly.				exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CCGAAGTCATCACTGCAGCCG	0.562																																						ENST00000422256.2																			0				endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(22-24)atC>atA		protein phosphatase 2, regulatory subunit B, delta							127.0	129.0	128.0					10																	133758848		2203	4300	6503	SO:0001819	synonymous_variant	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133758848C>A	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.24C>A	10.37:g.133758848C>A						PPP2R2D_ENST00000470416.1_3'UTR	p.I8I			Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	4	509	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	235			Poly-Gly.		A8KAK0|Q5SQJ2|Q9P1Y7	Silent	SNP	ENST00000422256.2	37	c.24C>A																																																																																					0.562	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461		15	97	1	0	2.31682e-05	1	2.5485e-05	15	97				
FCGBP	8857	broad.mit.edu	37	19	40374023	40374023	+	Missense_Mutation	SNP	C	C	T	rs561293450	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:40374023C>T	ENST00000221347.6	-	26	12062	c.12055G>A	c.(12055-12057)Gtg>Atg	p.V4019M	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4019	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGCACACCACGACTTTACCC	0.642													C|||	36	0.0071885	0.0121	0.0029	5008	,	,		23567	0.004		0.0119	False		,,,				2504	0.002					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12055-12057)Gtg>Atg		Fc fragment of IgG binding protein							13.0	14.0	13.0					19																	40374023		2141	4205	6346	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40374023C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12055G>A	19.37:g.40374023C>T	ENSP00000221347:p.Val4019Met						p.V4019M	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		26	12062	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4019			Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12055G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	6.436	0.448534	0.12223	.	.	ENSG00000090920	ENST00000221347	T	0.06608	3.28	2.99	-5.98	0.02220	von Willebrand factor, type C (1);	.	.	.	.	T	0.03520	0.0101	L	0.31476	0.935	0.09310	N	1	B	0.29766	0.256	B	0.14578	0.011	T	0.30060	-0.9991	9	0.34782	T	0.22	.	6.2908	0.21059	0.0:0.3427:0.2739:0.3834	.	4019	Q9Y6R7	FCGBP_HUMAN	M	4019	ENSP00000221347:V4019M	ENSP00000221347:V4019M	V	-	1	0	FCGBP	45065863	0.000000	0.05858	0.010000	0.14722	0.077000	0.17291	-1.245000	0.02899	-1.918000	0.01072	-0.680000	0.03767	GTG		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		3	18	0	0	0	1	0	3	18				
ZKSCAN7	55888	broad.mit.edu	37	3	44611529	44611529	+	Silent	SNP	A	A	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr3:44611529A>T	ENST00000273320.3	+	6	1356	c.927A>T	c.(925-927)gcA>gcT	p.A309A	ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.A309A|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	309					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTGGGGCAGCAGAGACTGGAG	0.438																																						ENST00000273320.3																			0											c.(925-927)gcA>gcT		zinc finger with KRAB and SCAN domains 7							117.0	125.0	122.0					3																	44611529		2203	4300	6503	SO:0001819	synonymous_variant	55888							g.chr3:44611529A>T	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.927A>T	3.37:g.44611529A>T						ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.A309A|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron	p.A309A	NM_018651.2	NP_061121.2					6	1356	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	ENST00000273320.3	37	c.927A>T	CCDS2715.1																																																																																				0.438	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		28	116	0	0	0	1	0	28	116				
CDH9	1007	broad.mit.edu	37	5	26886102	26886102	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:26886102G>C	ENST00000231021.4	-	10	1775	c.1603C>G	c.(1603-1605)Ccg>Gcg	p.P535A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P535T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTGAAATTCGGATTGAGAGTA	0.318																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			1	Substitution - Missense(1)	p.P535T(1)	lung(1)	breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1603-1605)Ccg>Gcg		cadherin 9, type 2 (T1-cadherin)							66.0	75.0	72.0					5																	26886102		2202	4300	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26886102G>C	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1603C>G	5.37:g.26886102G>C	ENSP00000231021:p.Pro535Ala						p.P535A	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			10	1775	-			535			Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1603C>G	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661890	0.47572	.	.	ENSG00000113100	ENST00000231021	T	0.50548	0.74	5.76	4.88	0.63580	Cadherin (4);Cadherin-like (1);	0.105582	0.64402	N	0.000004	T	0.45756	0.1358	L	0.55834	1.745	0.58432	D	0.999994	B;B	0.19935	0.01;0.04	B;B	0.26864	0.05;0.074	T	0.33240	-0.9876	9	.	.	.	.	15.3422	0.74306	0.0:0.1404:0.8596:0.0	.	128;535	B4DFP0;Q9ULB4	.;CADH9_HUMAN	A	535	ENSP00000231021:P535A	.	P	-	1	0	CDH9	26921859	1.000000	0.71417	0.833000	0.33012	0.922000	0.55478	6.548000	0.73896	1.406000	0.46857	0.467000	0.42956	CCG		0.318	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		4	94	0	0	0	1	0	4	94				
FZD1	8321	broad.mit.edu	37	7	90895680	90895680	+	Silent	SNP	C	C	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr7:90895680C>G	ENST00000287934.2	+	1	1898	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	495					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGGCGCCCCTCTTCGTGTACC	0.622																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1483-1485)ctC>ctG		frizzled family receptor 1							182.0	162.0	168.0					7																	90895680		2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895680C>G	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1485C>G	7.37:g.90895680C>G							p.L495L	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1898	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		495					A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.1485C>G	CCDS5620.1																																																																																				0.622	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		74	100	0	0	0	1	0	74	100				
TAS2R1	50834	broad.mit.edu	37	5	9630016	9630016	+	Silent	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:9630016C>T	ENST00000382492.2	-	1	447	c.129G>A	c.(127-129)ccG>ccA	p.P43P	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	43					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGAGATCCAGCGGAGCCATTT	0.378																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(127-129)ccG>ccA		taste receptor, type 2, member 1							55.0	59.0	58.0					5																	9630016		2202	4300	6502	SO:0001819	synonymous_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9630016C>T	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.129G>A	5.37:g.9630016C>T						CTD-2001E22.1_ENST00000504182.2_RNA	p.P43P	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	447	-			43					Q646G8	Silent	SNP	ENST00000382492.2	37	c.129G>A	CCDS3876.1																																																																																				0.378	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			8	72	0	0	0	1	0	8	72				
SCN8A	6334	broad.mit.edu	37	12	52139791	52139791	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:52139791G>A	ENST00000354534.6	+	13	2281	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	SCN8A_ENST00000545061.1_Missense_Mutation_p.M701I|SCN8A_ENST00000550891.1_Missense_Mutation_p.M701I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	701					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ACAGTATAATGAGTGTTGTTA	0.403																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2101-2103)atG>atA		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						113.0	111.0	112.0					12																	52139791		1875	4099	5974	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52139791G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2103G>A	12.37:g.52139791G>A	ENSP00000346534:p.Met701Ile					SCN8A_ENST00000545061.1_Missense_Mutation_p.M701I|SCN8A_ENST00000550891.1_Missense_Mutation_p.M701I	p.M701I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	13	2281	+			701					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2103G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370140	0.61624	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.95656	-3.73;-3.77;-3.74;-3.6	5.18	4.29	0.51040	.	0.135433	0.64402	D	0.000004	D	0.91640	0.7358	N	0.22421	0.69	0.52099	D	0.999946	B;B;B;B	0.33299	0.407;0.002;0.015;0.066	B;B;B;B	0.37144	0.242;0.002;0.006;0.03	D	0.91292	0.5060	10	0.56958	D	0.05	.	13.9073	0.63843	0.0729:0.0:0.9271:0.0	.	701;712;701;701	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	I	701;701;701;701;614	ENSP00000448415:M701I;ENSP00000346534:M701I;ENSP00000440360:M701I;ENSP00000347255:M701I	ENSP00000346534:M701I	M	+	3	0	SCN8A	50426058	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.427000	0.59888	1.545000	0.49373	0.655000	0.94253	ATG		0.403	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		22	19	0	0	0	1	0	22	19				
NFATC2	4773	broad.mit.edu	37	20	50139907	50139907	+	Silent	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:50139907C>T	ENST00000396009.3	-	2	1092	c.873G>A	c.(871-873)ccG>ccA	p.P291P	NFATC2_ENST00000609507.1_Silent_p.P72P|NFATC2_ENST00000609943.1_Silent_p.P271P|NFATC2_ENST00000610033.1_Silent_p.P72P|NFATC2_ENST00000414705.1_Silent_p.P271P|NFATC2_ENST00000371564.3_Silent_p.P291P	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	291					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGTACCCAGCCGGGGAGCCGT	0.697																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(871-873)ccG>ccA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							8.0	10.0	9.0					20																	50139907		2126	4183	6309	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139907C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.873G>A	20.37:g.50139907C>T						NFATC2_ENST00000414705.1_Silent_p.P271P|NFATC2_ENST00000396009.3_Silent_p.P291P	p.P291P	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	1092	-	Hepatocellular(150;0.248)		291					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.873G>A	CCDS13437.1																																																																																				0.697	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		16	17	0	0	0	1	0	16	17				
DYSF	8291	broad.mit.edu	37	2	71780304	71780304	+	Missense_Mutation	SNP	G	G	C	rs150417363		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr2:71780304G>C	ENST00000258104.3	+	20	2193	c.1916G>C	c.(1915-1917)cGt>cCt	p.R639P	DYSF_ENST00000394120.2_Missense_Mutation_p.R640P|DYSF_ENST00000409651.1_Missense_Mutation_p.R671P|DYSF_ENST00000410041.1_Missense_Mutation_p.R657P|DYSF_ENST00000409582.3_Missense_Mutation_p.R656P|DYSF_ENST00000413539.2_Missense_Mutation_p.R670P|DYSF_ENST00000409744.1_Missense_Mutation_p.R626P|DYSF_ENST00000429174.2_Missense_Mutation_p.R639P|DYSF_ENST00000409762.1_Missense_Mutation_p.R656P|DYSF_ENST00000410020.3_Missense_Mutation_p.R657P|DYSF_ENST00000409366.1_Missense_Mutation_p.R640P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	639					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGTACAGCCGTGCAGTCTTT	0.582																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(1915-1917)cGt>cCt		dysferlin							100.0	86.0	91.0					2																	71780304		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71780304G>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1916G>C	2.37:g.71780304G>C	ENSP00000258104:p.Arg639Pro					DYSF_ENST00000394120.2_Missense_Mutation_p.R640P|DYSF_ENST00000409366.1_Missense_Mutation_p.R640P|DYSF_ENST00000429174.2_Missense_Mutation_p.R639P|DYSF_ENST00000409744.1_Missense_Mutation_p.R626P|DYSF_ENST00000413539.2_Missense_Mutation_p.R670P|DYSF_ENST00000410020.3_Missense_Mutation_p.R657P|DYSF_ENST00000409762.1_Missense_Mutation_p.R656P|DYSF_ENST00000410041.1_Missense_Mutation_p.R657P|DYSF_ENST00000409582.3_Missense_Mutation_p.R656P|DYSF_ENST00000409651.1_Missense_Mutation_p.R671P	p.R639P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			20	2193	+			639					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.1916G>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342047	0.81911	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83250	-1.69;-1.7;-1.7;-1.69;-1.7;-1.69;-1.69;-1.7;-1.69;-1.69;-1.69	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	L	0.28694	0.88	0.58432	D	0.999998	D;D;D;D;D;D;D;B;D;P;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.178;1.0;0.511;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;B;D;B;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.991;0.987;0.991;0.156;1.0;0.362;0.992;1.0;1.0;0.999	D	0.84504	0.0618	10	0.32370	T	0.25	-30.4078	16.4751	0.84130	0.0:0.0:1.0:0.0	.	671;657;640;626;657;626;656;625;670;656;639;625;640;639	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	P	670;656;656;639;639;671;640;626;640;657;657	ENSP00000407046:R670P;ENSP00000387137:R656P;ENSP00000386547:R656P;ENSP00000398305:R639P;ENSP00000258104:R639P;ENSP00000386683:R671P;ENSP00000377678:R640P;ENSP00000386285:R626P;ENSP00000386512:R640P;ENSP00000386881:R657P;ENSP00000386617:R657P	ENSP00000258104:R639P	R	+	2	0	DYSF	71633812	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.934000	0.87649	2.488000	0.83962	0.655000	0.94253	CGT		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		10	113	0	0	0	1	0	10	113				
CNTN3	5067	broad.mit.edu	37	3	74411041	74411041	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr3:74411041C>T	ENST00000263665.6	-	10	1391	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	455	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATCAAAATACCTTTCATGCTC	0.448																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.e10+1		contactin 3 (plasmacytoma associated)							68.0	65.0	66.0					3																	74411041		2203	4300	6503	SO:0001630	splice_region_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74411041C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1364+1G>A	3.37:g.74411041C>T							p.R455_splice	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	10	1391	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	455			Ig-like C2-type 5.		B9EK50|Q9H039	Splice_Site	SNP	ENST00000263665.6	37	c.1364_splice	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135484	0.77662	.	.	ENSG00000113805	ENST00000263665	T	0.37752	1.18	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.69823	2.125	0.80722	D	1	D	0.54207	0.965	D	0.63877	0.919	T	0.55866	-0.8073	9	.	.	.	.	17.3543	0.87331	0.0:1.0:0.0:0.0	.	455	Q9P232	CNTN3_HUMAN	K	455	ENSP00000263665:R455K	.	R	-	2	0	CNTN3	74493731	1.000000	0.71417	0.998000	0.56505	0.134000	0.20937	6.647000	0.74354	2.697000	0.92050	0.591000	0.81541	AGA		0.448	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	Missense_Mutation	27	21	0	0	0	1	0	27	21				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	94	0	0	0	1	0	4	94				
MKI67	4288	broad.mit.edu	37	10	129905829	129905829	+	Silent	SNP	T	T	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:129905829T>C	ENST00000368654.3	-	13	4650	c.4275A>G	c.(4273-4275)ggA>ggG	p.G1425G	MKI67_ENST00000368653.3_Silent_p.G1065G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1425	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TATCCTCACCTCCTGGTACTT	0.483																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4273-4275)ggA>ggG		marker of proliferation Ki-67							280.0	262.0	268.0					10																	129905829		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905829T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4275A>G	10.37:g.129905829T>C						MKI67_ENST00000368653.3_Silent_p.G1065G	p.G1425G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4650	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1425			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.4275A>G	CCDS7659.1																																																																																				0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		5	241	0	0	0	1	0	5	241				
RAB42	115273	broad.mit.edu	37	1	28920318	28920318	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:28920318A>T	ENST00000373826.3	+	2	313	c.7A>T	c.(7-9)Act>Tct	p.T3S	TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	3					small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCATGGCCACTCAGGGCCC	0.577																																						ENST00000373826.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(7-9)Act>Tct		RAB42, member RAS oncogene family							6.0	6.0	6.0					1																	28920318		2170	4214	6384	SO:0001583	missense	115273				small GTPase mediated signal transduction	membrane	GTP binding	g.chr1:28920318A>T	BC033175	CCDS325.1	1p35.3	2014-02-12	2006-04-28		ENSG00000188060	ENSG00000188060		"""RAB, member RAS oncogene"""	28702	protein-coding gene	gene with protein product			"""RAB42, member RAS homolog family"""				Standard	NM_152304		Approved	MGC45806	uc001bqv.3	Q8N4Z0	OTTHUMG00000003656	ENST00000373826.3:c.7A>T	1.37:g.28920318A>T	ENSP00000362932:p.Thr3Ser					TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR	p.T3S	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)	2	313	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	3					B2R5G2	Missense_Mutation	SNP	ENST00000373826.3	37	c.7A>T	CCDS325.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.338176	0.41398	.	.	ENSG00000188060	ENST00000373826	T	0.79247	-1.25	5.56	4.44	0.53790	.	0.284083	0.25631	N	0.029352	T	0.49762	0.1576	N	0.03930	-0.32	0.26432	N	0.975923	B	0.28233	0.204	B	0.30105	0.111	T	0.32640	-0.9899	10	0.20519	T	0.43	.	3.4652	0.07548	0.6276:0.2367:0.1357:0.0	.	3	Q8N4Z0	RAB42_HUMAN	S	3	ENSP00000362932:T3S	ENSP00000362932:T3S	T	+	1	0	RAB42	28792905	0.001000	0.12720	0.997000	0.53966	0.609000	0.37215	0.919000	0.28692	2.112000	0.64535	0.459000	0.35465	ACT		0.577	RAB42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010371.1	NM_152304		7	6	0	0	0	1	0	7	6				
RP11-782C8.2	0	broad.mit.edu	37	1	143146075	143146076	+	lincRNA	INS	-	-	T	rs151057799		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:143146075_143146076insT	ENST00000412204.2	-	0	2503				RP11-782C8.1_ENST00000438000.1_lincRNA																							aagactctgtctcaaaaaaaaa	0.411																																						ENST00000412204.2																			0																																																			0							g.chr1:143146075_143146076insT																													1.37:g.143146076_143146076dupT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	2503	-									RNA	INS	ENST00000412204.2	37																																																																																						0.411	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			3	4						3	4	---	---	---	---
CD34	947	broad.mit.edu	37	1	208070903	208070903	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:208070903delA	ENST00000310833.7	-	4	853	c.532delT	c.(532-534)tcafs	p.S178fs	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Frame_Shift_Del_p.S43fs|CD34_ENST00000356522.4_Frame_Shift_Del_p.S178fs	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	178					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGATGCCTGAACATTTGATT	0.418																																						ENST00000356522.4																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(532-534)cafs		CD34 molecule							54.0	46.0	48.0					1																	208070903		2193	4284	6477	SO:0001589	frameshift_variant	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208070903delA	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.532delT	1.37:g.208070903delA	ENSP00000310036:p.Ser178fs					CD34_ENST00000310833.7_Frame_Shift_Del_p.S178fs|CD34_ENST00000537704.1_Frame_Shift_Del_p.S43fs|CD34_ENST00000485761.1_5'UTR	p.S178fs	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN			4	853	-			178					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Frame_Shift_Del	DEL	ENST00000310833.7	37	c.532delT	CCDS31011.1																																																																																				0.418	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		2	4						2	4	---	---	---	---
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	lincRNA	DEL	AAT	AAT	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246																																						ENST00000417039.1																			0																																																			0							g.chr2:38710017_38710019delAAT																													2.37:g.38710017_38710019delAAT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.246	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			4	9						4	9	---	---	---	---
LINC00884	401106	broad.mit.edu	37	3	194230007	194230008	+	RNA	INS	-	-	T	rs369082349|rs57586113		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr3:194230007_194230008insT	ENST00000448892.1	+	0	1471				LINC00884_ENST00000437597.1_RNA	NR_033929.1				long intergenic non-protein coding RNA 884																		TTCCTCTCttcttttttttttt	0.455																																						ENST00000448892.1																			0																																																			0							g.chr3:194230007_194230008insT			3q29	2013-05-17			ENSG00000233058	ENSG00000233058		"""Long non-coding RNAs"""	48570	non-coding RNA	RNA, long non-coding							Standard	NR_033929		Approved				OTTHUMG00000156037		3.37:g.194230018_194230018dupT						LINC00884_ENST00000437597.1_RNA		NR_033929.1						0	1471	+									RNA	INS	ENST00000448892.1	37																																																																																						0.455	LINC00884-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000342809.1			2	4						2	4	---	---	---	---
SRP72	6731	broad.mit.edu	37	4	57333819	57333820	+	Frame_Shift_Ins	INS	-	-	G	rs17524437	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:57333819_57333820insG	ENST00000342756.5	+	1	739_740	c.18_19insG	c.(19-21)gggfs	p.G7fs	SRP72_ENST00000510663.1_Frame_Shift_Ins_p.G7fs|SRP72_ENST00000504757.1_Frame_Shift_Ins_p.G7fs	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	7					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GCGGCGGCAGCGGGGGGGTGTC	0.639																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(16-21)agggggfs		signal recognition particle 72kDa																																				SO:0001589	frameshift_variant	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57333819_57333820insG	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.25dupG	4.37:g.57333826_57333826dupG	ENSP00000342181:p.Gly7fs					SRP72_ENST00000504757.1_Frame_Shift_Ins_p.RG6fs|SRP72_ENST00000510663.1_Frame_Shift_Ins_p.RG6fs	p.RG6fs	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			1	739_740	+	Glioma(25;0.08)|all_neural(26;0.101)		6					G5E9Z8|Q7Z3C0	Frame_Shift_Ins	INS	ENST00000342756.5	37	c.18_19insG	CCDS3506.1																																																																																				0.639	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			10	21						10	21	---	---	---	---
CTB-12O2.1	101927115	broad.mit.edu	37	5	151498883	151498883	+	lincRNA	DEL	G	G	-			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:151498883delG	ENST00000524295.1	+	0	199																											CAGTTGGAGTGGGATGAGACA	0.522																																						ENST00000524295.1																			0																																																			0							g.chr5:151498883delG																													5.37:g.151498883delG														0	199	+									RNA	DEL	ENST00000524295.1	37																																																																																						0.522	CTB-12O2.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000373979.1			2	4						2	4	---	---	---	---
STAG3L4	64940	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66772495delT			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66772495delT								NR_040586.1		Q8TBR4	STG34_HUMAN			0	362	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	DEL	ENST00000416602.2	37																																																																																						0.423	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		3	3						3	3	---	---	---	---
ZNF252P	286101	broad.mit.edu	37	8	146228843	146228843	+	RNA	DEL	G	G	-			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr8:146228843delG	ENST00000426361.2	-	0	0				ZNF252P-AS1_ENST00000527067.1_RNA	NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						GGCGGCGGGCGGGGGTGAAGC	0.652																																						ENST00000527067.1																			0																																																			0							g.chr8:146228843delG	BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146228843delG								NR_026974.1						0	647	+									RNA	DEL	ENST00000426361.2	37																																																																																						0.652	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000451422.1	NR_023392		2	4						2	4	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66460027	66460027	+	lincRNA	DEL	T	T	-	rs112286776		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr9:66460027delT	ENST00000424345.1	+	0	224				RNA5SP283_ENST00000365604.1_RNA																							ttgggaaggcttttcacatat	0.343																																						ENST00000424345.1																			0																																																			0							g.chr9:66460027delT																													9.37:g.66460027delT														0	224	+									RNA	DEL	ENST00000424345.1	37																																																																																						0.343	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			4	3						4	3	---	---	---	---
RP11-764K9.1	0	broad.mit.edu	37	9	68406889	68406889	+	lincRNA	DEL	G	G	-	rs113316891		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr9:68406889delG	ENST00000417843.2	-	0	224				RNA5SP284_ENST00000384547.1_RNA																							atccagggcagtcatagtggt	0.498																																						ENST00000417843.2																			0																																																			0							g.chr9:68406889delG																													9.37:g.68406889delG														0	224	-									RNA	DEL	ENST00000417843.2	37																																																																																						0.498	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000129817.2			3	5						3	5	---	---	---	---
C9orf139	401563	broad.mit.edu	37	9	139931682	139931683	+	IGR	INS	-	-	GTGGGC	rs149732889|rs61042534	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr9:139931682_139931683insGTGGGC	ENST00000314330.2	+	0	3815				RP11-229P13.20_ENST00000457302.2_lincRNA	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139											cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		AGTGAAGGATGGTGGGCGTGGG	0.678														4498	0.898163	0.8396	0.9452	5008	,	,		19859	0.9444		0.9314	False		,,,				2504	0.862					ENST00000457302.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr9:139931682_139931683insGTGGGC		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959		9.37:g.139931683_139931688dupGTGGGC														0	191_192	+								A2RUA3|B9EGW2|Q5SPY0|Q8N224	RNA	INS	ENST00000314330.2	37		CCDS7023.1																																																																																				0.678	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	NM_207511		4	2						4	2	---	---	---	---
RP11-405A12.2	0	broad.mit.edu	37	12	20103413	20103414	+	lincRNA	INS	-	-	TTC	rs35481088|rs199911925		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:20103413_20103414insTTC	ENST00000535764.1	+	0	378																											ggttaatttctttttttttttt	0.51																																						ENST00000535764.1																			0																																																			0							g.chr12:20103413_20103414insTTC																													12.37:g.20103413_20103414insTTC														0	378	+									RNA	INS	ENST00000535764.1	37																																																																																						0.510	RP11-405A12.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401672.1			4	2						4	2	---	---	---	---
IGHV4-61	28391	broad.mit.edu	37	14	107095573	107095573	+	RNA	DEL	G	G	-	rs552690124	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr14:107095573delG	ENST00000390630.2	-	0	89				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		TTCTTGCACAGGAGGTCCAGG	0.507													|||unknown(NO_COVERAGE)	16	0.00319489	0.0	0.0	5008	,	,		10932	0.0		0.003	False		,,,				2504	0.0133					ENST00000390630.2																			0																	59,3195		2,55,1570	21.0	39.0	33.0			0.1	0.0	14		34	93,7345		6,81,3632	no	intergenic				8,136,5202	A1A1,A1R,RR		1.2503,1.8132,1.4216			107095573	152,10540	1711	3937	5648			0							g.chr14:107095573delG	M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095573delG														0	89	-									RNA	DEL	ENST00000390630.2	37																																																																																						0.507	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324623.1	NG_001019		5	9						5	9	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28929261	28929261	+	RNA	DEL	T	T	-			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr15:28929261delT	ENST00000528584.1	+	0	1811					NR_036443.1				hect domain and RLD 2 pseudogene 9																		TAAAGTCCAGTTTTTTTCCTG	0.303																																						ENST00000528584.1																			0																																																			0							g.chr15:28929261delT	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28929261delT								NR_036443.1						0	1811	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.303	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102294302	102294304	+	RNA	DEL	GCT	GCT	-	rs575228645	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr15:102294302_102294304delGCT	ENST00000561463.1	+	0	2348_2350									DNM1 pseudogene 47																		TCTTCTCAGAGCTGCTGTCCAAC	0.591																																						ENST00000561463.1																			0																																																			0							g.chr15:102294302_102294304delGCT	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294305_102294307delGCT														0	2348_2350	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.591	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
RP11-1166P10.6	0	broad.mit.edu	37	16	32031891	32031892	+	RNA	INS	-	-	G	rs398119347|rs138909480	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr16:32031891_32031892insG	ENST00000566806.1	-	0	499																											GAAAATGCCCAGGGGGGCCCAG	0.574													gggggg|GGGGGG|GGGGGGG|insertion	1877	0.3748	0.4592	0.2478	5008	,	,		25427	0.3403		0.333	False		,,,				2504	0.4294					ENST00000566806.1																			0																																																			0							g.chr16:32031891_32031892insG																													16.37:g.32031897_32031897dupG														0	499	-									RNA	INS	ENST00000566806.1	37																																																																																						0.574	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			2	4						2	4	---	---	---	---
CTB-171A8.1	0	broad.mit.edu	37	19	45193191	45193191	+	RNA	DEL	C	C	-			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:45193191delC	ENST00000590796.1	-	0	408																											cccttgcacacccccaggcac	0.572																																						ENST00000590796.1																			0																																																			0							g.chr19:45193191delC																													19.37:g.45193191delC														0	408	-									RNA	DEL	ENST00000590796.1	37																																																																																						0.572	CTB-171A8.1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000451613.1			2	4						2	4	---	---	---	---
FAM182A	284800	broad.mit.edu	37	20	26054752	26054754	+	RNA	DEL	ATC	ATC	-	rs372964878		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:26054752_26054754delATC	ENST00000376398.2	+	0	819					NR_026713.1		Q5T1J6	F182A_HUMAN	family with sequence similarity 182, member A											breast(1)|endometrium(2)|kidney(1)	4						caccatcattatcatcattacta	0.399																																						ENST00000376398.2																			0				breast(1)|endometrium(2)|kidney(1)	4																																														0							g.chr20:26054752_26054754delATC	AL391119		20p11	2013-03-18	2008-08-05	2008-08-05	ENSG00000125804	ENSG00000125804			16222	other	unknown			"""chromosome 20 open reading frame 91"""	C20orf91			Standard	NR_026713		Approved	bB329D4.1, C20orf91A	uc010gdq.3	Q5T1J6	OTTHUMG00000032144		20.37:g.26054755_26054757delATC								NR_026713.1						0	819	+								A2RRD0|Q8N947	RNA	DEL	ENST00000376398.2	37																																																																																						0.399	FAM182A-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000078473.2			3	4						3	4	---	---	---	---
GNAS-AS1	149775	broad.mit.edu	37	20	57405511	57405513	+	RNA	DEL	CAC	CAC	-			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:57405511_57405513delCAC	ENST00000424094.2	-	0	819				GNAS-AS1_ENST00000598163.1_RNA	NR_002785.2				GNAS antisense RNA 1																		ccaccaccatcaccaccaccaca	0.557																																						ENST00000424094.2																			0																																																			0							g.chr20:57405511_57405513delCAC	AJ251759		20q13.32	2012-10-19	2012-08-15	2010-11-25	ENSG00000235590	ENSG00000235590		"""Long non-coding RNAs"", ""-"""	24872	non-coding RNA	RNA, long non-coding	"""GNAS antisense"", ""non-protein coding RNA 75"""	610540	"""GNAS antisense RNA (non-protein coding)"", ""GNAS antisense RNA 1 (non-protein coding)"""	GNASAS, GNAS-AS		10749992	Standard	NR_002785		Approved	SANG, NESP-AS, NESPAS, GNAS1AS, NCRNA00075	uc002xzs.2		OTTHUMG00000060481		20.37:g.57405520_57405522delCAC						GNAS-AS1_ENST00000598163.1_RNA		NR_002785.2						0	819	-									RNA	DEL	ENST00000424094.2	37																																																																																						0.557	GNAS-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000133891.2	NR_002785		3	5						3	5	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58720112	58720114	+	lincRNA	DEL	CTC	CTC	-			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:58720112_58720114delCTC	ENST00000432910.1	+	0	153					NR_046099.1																						ATTTTTCCCACTCCTCCTTCCCC	0.379																																						ENST00000432910.1																			0																																																			0							g.chr20:58720112_58720114delCTC																													20.37:g.58720115_58720117delCTC								NR_046099.1						0	153	+									RNA	DEL	ENST00000432910.1	37																																																																																						0.379	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			4	4						4	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11048361	11048361	+	RNA	DEL	A	A	-	rs71293628|rs4040844	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr21:11048361delA	ENST00000470054.1	-	0	659							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGGGAAGAGAAAAAAACAGG	0.408														2233	0.445887	0.3805	0.4986	5008	,	,		87412	0.4276		0.5109	False		,,,				2504	0.4489					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11048361delA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11048361delA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	659	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.408	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	4						3	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11062343	11062344	+	RNA	INS	-	-	AG	rs148978863|rs61094315|rs142034072		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr21:11062343_11062344insAG	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGTAAAAGACAGCAACTTTCA	0.267																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11062343_11062344insAG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11062344_11062345dupAG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.267	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	6						4	6	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11066883	11066884	+	RNA	INS	-	-	AA	rs147216020|rs201017143		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr21:11066883_11066884insAA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTAGAATCCATAATACTCTCAG	0.366																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11066883_11066884insAA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11066884_11066885dupAA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.366	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	3						3	3	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11069012	11069013	+	RNA	INS	-	-	C	rs112533412|rs55650482|rs547108679	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr21:11069012_11069013insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tttttcaacttcaaaaaattaa	0.272																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11069012_11069013insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11069013_11069013dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.272	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	6						4	6	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11088487	11088488	+	RNA	DEL	TG	TG	-	rs59973390|rs113519528|rs55881937|rs561074788	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr21:11088487_11088488delTG	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tttgtttttttgttgttgttgt	0.401														2541	0.507388	0.4607	0.5187	5008	,	,		60343	0.4821		0.5596	False		,,,				2504	0.5348					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11088487_11088488delTG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11088487_11088488delTG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.401	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
MIR99AHG	388815	broad.mit.edu	37	21	17741884	17741884	+	lincRNA	DEL	A	A	-	rs77858910		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr21:17741884delA	ENST00000458468.1	+	0	469					NR_027790.1																						CCCCCTGGCCAAAAAAAAGCC	0.458																																						ENST00000458468.1																			0																																																			0							g.chr21:17741884delA																													21.37:g.17741884delA								NR_027790.1						0	469	+									RNA	DEL	ENST00000458468.1	37																																																																																						0.458	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			2	4						2	4	---	---	---	---
GGT3P	2679	broad.mit.edu	37	22	18771547	18771547	+	RNA	DEL	G	G	-	rs376741447|rs149629602|rs112829758		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr22:18771547delG	ENST00000412448.1	-	0	834							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TTTTTGttttgtttttttttt	0.433																																						ENST00000412448.1																			0																																																			0							g.chr22:18771547delG			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18771547delG														0	834	-									RNA	DEL	ENST00000412448.1	37																																																																																						0.433	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	6						3	6	---	---	---	---
