#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
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	C	G	rs199623827	byFrequency	TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:12885059C>G	ENST00000535591.1	-	4	1247	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	351					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C351S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532													.|||	21	0.00419329	0.003	0.0072	5008	,	,		19682	0.001		0.0089	False		,,,				2504	0.002					uc001auk.2																			1	Substitution - Missense(1)	p.C351S(2)	kidney(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1051-1053)tGc>tCc		Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.							36.0	29.0	31.0					1																	12885059		692	1579	2271	SO:0001583	missense	440560							g.chr1:12885059C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1052G>C	1.37:g.12885059C>G	ENSP00000439551:p.Cys351Ser						p.C351S	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			3	1248	-			351						Missense_Mutation	SNP	ENST00000535591.1	37	c.1052G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.316351	0.00235	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.06371	3.31;3.31	1.52	1.52	0.23074	.	0.067349	0.64402	N	0.000012	T	0.00608	0.0020	N	0.00003	-3.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44907	-0.9297	10	0.02654	T	1	.	5.7253	0.18010	0.0:0.3438:0.6562:0.0	.	351	O60813	PRA11_HUMAN	S	351;392;351	ENSP00000439551:C351S;ENSP00000391839:C351S	ENSP00000328783:C392S	C	-	2	0	PRAMEF11	12807646	0.578000	0.26717	0.014000	0.15608	0.005000	0.04900	0.846000	0.27682	0.208000	0.20626	-0.483000	0.04790	TGC		0.532	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341	
HCRTR1	3061	broad.mit.edu	37	1	32084853	32084853	+	Silent	SNP	G	G	A	rs142288232		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:32084853G>A	ENST00000373706.5	+	1	213	c.60G>A	c.(58-60)ccG>ccA	p.P20P	HCRTR1_ENST00000373705.1_Silent_p.P20P|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000403528.2_Silent_p.P20P			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	20					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GCAGAGAGCCGTCCCCTGTGC	0.607																																						uc009vtx.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(58-60)ccG>ccA		Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.		G		3,4403	8.1+/-20.4	0,3,2200	86.0	90.0	89.0		60	-6.2	0.0	1	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous	HCRTR1	NM_001525.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		20/426	32084853	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32084853G>A	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.60G>A	1.37:g.32084853G>A						HCRTR1_uc001btc.4_5'UTR|HCRTR1_uc001btd.2_Silent_p.P20P|HCRTR1_uc010ogl.2_Silent_p.P20P	p.P20P	NM_001525	NP_001516	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	2	445	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	20					A8K3A6|Q9HBV6	Silent	SNP	ENST00000373706.5	37	c.60G>A	CCDS344.1																																																																																				0.607	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525	
MSH4	4438	broad.mit.edu	37	1	76269590	76269590	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:76269590G>A	ENST00000263187.3	+	2	523	c.419G>A	c.(418-420)gGa>gAa	p.G140E		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	140					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CCACAAGTGGGATATTCAGGT	0.313								Mismatch excision repair (MMR)																														uc001dhd.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(418-420)gGa>gAa	Mismatch excision repair (MMR)	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.							85.0	88.0	87.0					1																	76269590		2202	4300	6502	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76269590G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.419G>A	1.37:g.76269590G>A	ENSP00000263187:p.Gly140Glu						p.G140E	NM_002440	NP_002431	O15457	MSH4_HUMAN			1	534	+			140					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.419G>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559692	0.27827	.	.	ENSG00000057468	ENST00000263187	D	0.87650	-2.28	4.73	1.65	0.23941	.	1.972850	0.02654	N	0.106777	T	0.68769	0.3037	N	0.20986	0.625	0.36993	D	0.894903	B	0.15930	0.015	B	0.17433	0.018	T	0.56123	-0.8031	10	0.66056	D	0.02	-5.1142	8.0091	0.30342	0.1489:0.1303:0.7208:0.0	.	140	O15457	MSH4_HUMAN	E	140	ENSP00000263187:G140E	ENSP00000263187:G140E	G	+	2	0	MSH4	76042178	1.000000	0.71417	0.988000	0.46212	0.698000	0.40448	2.584000	0.46102	0.427000	0.26145	-0.266000	0.10368	GGA		0.313	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	
KCNA10	3744	broad.mit.edu	37	1	111061339	111061339	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:111061339T>A	ENST00000369771.2	-	1	458	c.71A>T	c.(70-72)gAa>gTa	p.E24V		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	24					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GCCTGGCTCTTCTTGGATTTC	0.522																																						uc001dzt.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(70-72)gAa>gTa		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.							36.0	36.0	36.0					1																	111061339		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111061339T>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.71A>T	1.37:g.111061339T>A	ENSP00000358786:p.Glu24Val						p.E24V	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	0	459	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	24						Missense_Mutation	SNP	ENST00000369771.2	37	c.71A>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193896	0.58017	.	.	ENSG00000143105	ENST00000369771	D	0.96830	-4.14	5.63	5.63	0.86233	.	0.807665	0.10919	N	0.619701	D	0.92011	0.7469	L	0.57536	1.79	0.40720	D	0.982656	B	0.30068	0.267	B	0.18871	0.023	D	0.87894	0.2686	10	0.33141	T	0.24	.	15.0134	0.71565	0.0:0.0:0.0:1.0	.	24	Q16322	KCA10_HUMAN	V	24	ENSP00000358786:E24V	ENSP00000358786:E24V	E	-	2	0	KCNA10	110862862	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.126000	0.50477	2.136000	0.66102	0.533000	0.62120	GAA		0.522	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
TRIM33	51592	broad.mit.edu	37	1	114969900	114969900	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:114969900C>T	ENST00000358465.2	-	8	1402	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	TRIM33_ENST00000450349.2_Missense_Mutation_p.R48H|TRIM33_ENST00000369543.2_Missense_Mutation_p.R440H	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	440					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAATATGACGCAACTGGAA	0.353			T	RET	papillary thyroid																																	uc001eew.3				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1318-1320)cGt>cAt		Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.							94.0	95.0	94.0					1																	114969900		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114969900C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1319G>A	1.37:g.114969900C>T	ENSP00000351250:p.Arg440His					TRIM33_uc010owr.2_Missense_Mutation_p.R48H|TRIM33_uc010ows.2_Missense_Mutation_p.R48H|TRIM33_uc001eex.3_Missense_Mutation_p.R440H	p.R440H	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1403	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	440					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.1319G>A	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.53|18.53	3.644214|3.644214	0.67244|0.67244	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.75260|.	-0.78;-0.69;-0.92|.	4.94|4.94	4.94|4.94	0.65067|0.65067	B-box, C-terminal (1);|.	0.108901|.	0.64402|.	D|.	0.000005|.	T|T	0.47857|0.47857	0.1468|0.1468	L|L	0.33485|0.33485	1.01|1.01	0.58432|0.58432	D|D	0.999998|0.999998	D;D;B;B|.	0.76494|.	0.999;0.999;0.354;0.062|.	D;D;B;B|.	0.74674|.	0.984;0.984;0.041;0.015|.	T|T	0.43988|0.43988	-0.9357|-0.9357	10|5	0.34782|.	T|.	0.22|.	-4.9585|-4.9585	18.1494|18.1494	0.89669|0.89669	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	48;48;440;440|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	H|I	440;440;48|177	ENSP00000351250:R440H;ENSP00000358556:R440H;ENSP00000412077:R48H|.	ENSP00000351250:R440H|.	R|V	-|-	2|1	0|0	TRIM33|TRIM33	114771423|114771423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.616000|4.616000	0.61197|0.61197	2.298000|2.298000	0.77334|0.77334	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.353	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	
CRTC2	200186	broad.mit.edu	37	1	153927550	153927550	+	Silent	SNP	G	G	A	rs372355568		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:153927550G>A	ENST00000368633.1	-	2	373	c.246C>T	c.(244-246)gcC>gcT	p.A82A	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'UTR	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	82					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGGAACTCGGCCAGGCCAG	0.547																																						uc021pab.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(244-246)gcC>gcT		Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	70.0	70.0	70.0		246	-9.4	0.6	1		70	0,8600		0,0,4300	no	coding-synonymous	CRTC2	NM_181715.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		82/694	153927550	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153927550G>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.246C>T	1.37:g.153927550G>A						CRTC2_uc001fde.4_5'Flank|CRTC2_uc001fdf.4_5'Flank	p.A82A	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	405	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		82					Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	ENST00000368633.1	37	c.246C>T	CCDS30875.1																																																																																				0.547	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715	
GON4L	54856	broad.mit.edu	37	1	155791284	155791284	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:155791284G>A	ENST00000368331.1	-	5	992	c.944C>T	c.(943-945)aCg>aTg	p.T315M	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.T315M|GON4L_ENST00000437809.1_Missense_Mutation_p.T315M|GON4L_ENST00000271883.5_Missense_Mutation_p.T315M	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	315					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATATCTTCCGTCTCACTGAT	0.398																																						uc001flz.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(943-945)aCg>aTg		Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.							230.0	179.0	197.0					1																	155791284		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155791284G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.944C>T	1.37:g.155791284G>A	ENSP00000357315:p.Thr315Met					GON4L_uc001fly.1_Missense_Mutation_p.T315M|GON4L_uc009wrh.1_Missense_Mutation_p.T315M|GON4L_uc001fma.1_Missense_Mutation_p.T315M|GON4L_uc001fmc.3_Missense_Mutation_p.T315M|GON4L_uc001fmd.4_Missense_Mutation_p.T315M|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.T143M|GON4L_uc001fmf.3_Missense_Mutation_p.T9M	p.T315M	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			4	1041	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		315					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.944C>T		.	.	.	.	.	.	.	.	.	.	G	21.2	4.108738	0.77096	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.14391	2.69;2.69;2.69;2.51	5.16	5.16	0.70880	.	0.059662	0.64402	D	0.000003	T	0.28830	0.0715	M	0.69823	2.125	0.33363	D	0.572511	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;P;D	0.87578	0.988;0.998;0.942;0.877;0.942	T	0.03184	-1.1063	10	0.72032	D	0.01	.	16.5835	0.84720	0.0:0.0:1.0:0.0	.	9;315;315;315;315	Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	M	315	ENSP00000396117:T315M;ENSP00000357315:T315M;ENSP00000271883:T315M;ENSP00000354322:T315M	ENSP00000271883:T315M	T	-	2	0	GON4L	154057908	1.000000	0.71417	0.961000	0.40146	0.961000	0.63080	7.471000	0.80985	2.693000	0.91896	0.655000	0.94253	ACG		0.398	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
SPTA1	6708	broad.mit.edu	37	1	158609712	158609712	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:158609712C>T	ENST00000368147.4	-	34	5003	c.4823G>A	c.(4822-4824)cGt>cAt	p.R1608H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1608					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCTGTTGACGACTGGCCTC	0.463																																						uc001fst.1																			0		p.R1608C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4822-4824)cGt>cAt		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							200.0	184.0	189.0					1																	158609712		1922	4121	6043	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158609712C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4823G>A	1.37:g.158609712C>T	ENSP00000357129:p.Arg1608His						p.R1608H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			33	5022	-	all_hematologic(112;0.0378)		1608					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4823G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741017	0.89573	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35789	1.29;1.29	5.53	5.53	0.82687	.	0.000000	0.32134	N	0.006521	T	0.45377	0.1339	M	0.68952	2.095	0.39432	D	0.967103	D	0.76494	0.999	D	0.70716	0.97	T	0.50048	-0.8873	10	0.87932	D	0	.	8.2512	0.31724	0.0:0.8418:0.0:0.1582	.	1608	P02549	SPTA1_HUMAN	H	1608	ENSP00000357130:R1608H;ENSP00000357129:R1608H	ENSP00000357129:R1608H	R	-	2	0	SPTA1	156876336	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.475000	0.66787	2.882000	0.98803	0.655000	0.94253	CGT		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
DUSP27	92235	broad.mit.edu	37	1	167096396	167096396	+	Silent	SNP	G	G	A	rs376593703		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:167096396G>A	ENST00000361200.2	+	6	2194	c.2028G>A	c.(2026-2028)acG>acA	p.T676T	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.T676T|DUSP27_ENST00000443333.1_Silent_p.T676T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	676					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGACACGACGTCAGTACTGA	0.637																																						uc001geb.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(2026-2028)acG>acA		Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.		G		0,4406		0,0,2203	48.0	49.0	49.0		2028	-9.1	0.0	1		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DUSP27	NM_001080426.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		676/1159	167096396	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096396G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2028G>A	1.37:g.167096396G>A							p.T676T	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			4	2044	+			676					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.2028G>A	CCDS30932.1																																																																																				0.637	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
C4BPB	725	broad.mit.edu	37	1	207263727	207263727	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:207263727G>T	ENST00000243611.5	+	2	427	c.133G>T	c.(133-135)Ggg>Tgg	p.G45W	C4BPB_ENST00000391923.1_Missense_Mutation_p.G45W|C4BPB_ENST00000451804.2_Missense_Mutation_p.G35W|C4BPB_ENST00000367078.3_Missense_Mutation_p.G45W|C4BPB_ENST00000367076.3_Missense_Mutation_p.G44W	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	45	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						ACAGATTCTGGGGACTTACGT	0.473																																						uc009xcd.3																			0				breast(2)|lung(1)|ovary(1)	4						c.(103-105)Ggg>Tgg		Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.							136.0	118.0	124.0					1																	207263727		2203	4300	6503	SO:0001583	missense	725				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region		g.chr1:207263727G>T	L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.133G>T	1.37:g.207263727G>T	ENSP00000243611:p.Gly45Trp					C4BPB_uc001hfi.3_Missense_Mutation_p.G44W|C4BPB_uc001hfj.3_Missense_Mutation_p.G45W|C4BPB_uc001hfl.3_Missense_Mutation_p.G45W|C4BPB_uc001hfk.3_Missense_Mutation_p.G44W|C4BPB_uc001hfm.3_Missense_Mutation_p.G45W|C4BPB_uc010pse.1_Missense_Mutation_p.G35W	p.G35W	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN			1	423	+			45			Sushi 1.		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	ENST00000243611.5	37	c.103G>T	CCDS1476.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226426	0.58668	.	.	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923;ENST00000451804	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.08	4.16	0.48862	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.49916	D	0.000128	T	0.73992	0.3658	L	0.57536	1.79	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;0.997	T	0.65940	-0.6046	10	0.72032	D	0.01	-19.2581	11.8895	0.52620	0.0:0.1762:0.8238:0.0	.	35;35;45;44	E7EQT9;B4DDY0;P20851;P20851-2	.;.;C4BPB_HUMAN;.	W	45;45;45;44;45;35	ENSP00000356045:G45W;ENSP00000392237:G45W;ENSP00000243611:G45W;ENSP00000356043:G44W;ENSP00000375790:G45W;ENSP00000405649:G35W	ENSP00000243611:G45W	G	+	1	0	C4BPB	205330350	0.170000	0.23016	0.075000	0.20258	0.265000	0.26407	1.744000	0.38268	1.255000	0.44051	0.650000	0.86243	GGG		0.473	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	NM_000716	
OR2L13	284521	broad.mit.edu	37	1	248263039	248263039	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:248263039G>A	ENST00000358120.2	+	2	507	c.362G>A	c.(361-363)cGt>cAt	p.R121H	OR2L13_ENST00000366478.2_Missense_Mutation_p.R121H			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R121H(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCCTACGACCGTTATTTGGCC	0.498																																						uc001ids.3																			2	Substitution - Missense(2)	p.R121H(3)|p.R121S(1)|p.R121C(1)	haematopoietic_and_lymphoid_tissue(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(361-363)cGt>cAt		Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.							216.0	204.0	208.0					1																	248263039		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263039G>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.362G>A	1.37:g.248263039G>A	ENSP00000350836:p.Arg121His					OR2L13_uc021pmc.1_Missense_Mutation_p.R121H	p.R121H	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		2	699	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		121					Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.362G>A	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.715152	0.30413	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.77489	-1.1;-1.1	4.07	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000732	T	0.77585	0.4152	M	0.82716	2.605	0.29193	N	0.875743	B	0.18461	0.028	B	0.14023	0.01	T	0.74112	-0.3770	10	0.66056	D	0.02	.	11.2646	0.49104	0.0909:0.0:0.9091:0.0	.	121	Q8N349	OR2LD_HUMAN	H	121	ENSP00000355434:R121H;ENSP00000350836:R121H	ENSP00000350836:R121H	R	+	2	0	OR2L13	246329662	0.960000	0.32886	0.059000	0.19551	0.201000	0.24016	7.333000	0.79214	0.908000	0.36671	0.650000	0.86243	CGT		0.498	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
SVIL	6840	broad.mit.edu	37	10	29751331	29751331	+	Splice_Site	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr10:29751331C>T	ENST00000355867.4	-	36	7030		c.e36-1		PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375398.2_Splice_Site|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Splice_Site|SVIL_ENST00000535393.1_Splice_Site	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin						cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGATTTTTTCCTGTAGTTACA	0.468																																						uc001iut.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.e36-1		Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.							112.0	118.0	116.0					10																	29751331		2203	4300	6503	SO:0001630	splice_region_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29751331C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6278-1G>A	10.37:g.29751331C>T						LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Splice_Site_p.G1007_splice|SVIL_uc001iuu.1_Splice_Site_p.G1667_splice	p.G2093_splice	NM_021738	NP_068506	O95425	SVIL_HUMAN			36	7031	-		Breast(68;0.103)	2093					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Splice_Site	SNP	ENST00000355867.4	37	c.6278_splice	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284543	0.40394	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7774	0.88513	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SVIL	29791337	1.000000	0.71417	0.808000	0.32385	0.174000	0.22865	7.198000	0.77823	2.409000	0.81822	0.655000	0.94253	.		0.468	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		Intron
MUC5B	727897	broad.mit.edu	37	11	1250506	1250506	+	Silent	SNP	C	C	T	rs200948745		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr11:1250506C>T	ENST00000529681.1	+	9	1141	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	MUC5B_ENST00000531082.1_3'UTR|MUC5B_ENST00000447027.1_Silent_p.D361D	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	361	TIL 1.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTGTGTGGACGGCTGCTTCT	0.682																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(1081-1083)gaC>gaT		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							21.0	26.0	25.0					11																	1250506		2022	4180	6202	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1250506C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1083C>T	11.37:g.1250506C>T						MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Silent_p.D361D	p.D361D	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	8	1142	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	361			TIL 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.1083C>T	CCDS44515.2																																																																																				0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	uc021qcw.1																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(868-873)accagc>agc		Homo sapiens ubiquilin 3 (UBQLN3), mRNA.																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del					HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_In_Frame_Del_p.T290del	p.T290del	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	869_871	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290		T -> S (in dbSNP:rs2234451).			Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
GAPDH	2597	broad.mit.edu	37	12	6647098	6647098	+	Missense_Mutation	SNP	T	T	G			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:6647098T>G	ENST00000229239.5	+	8	1540	c.874T>G	c.(874-876)Tcc>Gcc	p.S292A	GAPDH_ENST00000396856.1_Missense_Mutation_p.S217A|GAPDH_ENST00000396859.1_Missense_Mutation_p.S292A|GAPDH_ENST00000396861.1_Missense_Mutation_p.S292A|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396858.1_Missense_Mutation_p.S250A	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	292					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CGACACCCACTCCTCCACCTT	0.582											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qop.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						c.(874-876)Tcc>Gcc		Homo sapiens glyceraldehyde-3-phosphate dehydrogenase (GAPDH), mRNA.	NADH(DB00157)						45.0	50.0	48.0					12																	6647098		2201	4296	6497	SO:0001583	missense	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6647098T>G	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.874T>G	12.37:g.6647098T>G	ENSP00000229239:p.Ser292Ala		OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635		p.S292A	NM_002046	NP_002037	P04406	G3P_HUMAN			7	976	+			292					E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	ENST00000229239.5	37	c.874T>G	CCDS8549.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429000	0.62844	.	.	ENSG00000111640	ENST00000229239;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	4.84	4.84	0.62591	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	M	0.89478	3.035	0.41863	D	0.990231	D;D;P;B	0.63046	0.992;0.992;0.808;0.153	D;D;P;B	0.80764	0.994;0.994;0.846;0.174	T	0.82174	-0.0588	10	0.87932	D	0	.	14.4998	0.67714	0.0:0.0:0.0:1.0	.	250;292;217;292	E7EUT4;Q2TSD0;E7EUT5;P04406	.;.;.;G3P_HUMAN	A	292;217;292;292;250	ENSP00000229239:S292A;ENSP00000380065:S217A;ENSP00000380070:S292A;ENSP00000380068:S292A;ENSP00000380067:S250A	ENSP00000229239:S292A	S	+	1	0	GAPDH	6517359	1.000000	0.71417	0.994000	0.49952	0.782000	0.44232	8.010000	0.88615	1.824000	0.53156	0.454000	0.30748	TCC		0.582	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046	
ATF7IP	55729	broad.mit.edu	37	12	14650695	14650695	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:14650695G>A	ENST00000540793.1	+	14	3656	c.3501G>A	c.(3499-3501)aaG>aaA	p.K1167K	ATF7IP_ENST00000536444.1_Silent_p.K1166K|ATF7IP_ENST00000261168.4_Silent_p.K1167K|ATF7IP_ENST00000544627.1_Silent_p.K1175K			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1167	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Interaction with MBD1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CACACTTGAAGTTAGCACGCG	0.547																																						uc001rbw.3																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(3499-3501)aaG>aaA		Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.							158.0	133.0	142.0					12																	14650695		2203	4300	6503	SO:0001819	synonymous_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14650695G>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3501G>A	12.37:g.14650695G>A						ATF7IP_uc001rbx.3_Silent_p.K1166K|ATF7IP_uc001rby.4_Silent_p.K1167K|ATF7IP_uc001rca.3_Silent_p.K1167K	p.K1167K	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			14	3659	+			1167			Fibronectin type-III.|Interaction with MBD1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Silent	SNP	ENST00000540793.1	37	c.3501G>A	CCDS8663.1																																																																																				0.547	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
PDE3A	5139	broad.mit.edu	37	12	20769164	20769164	+	Splice_Site	SNP	C	C	T	rs532896888		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:20769164C>T	ENST00000359062.3	+	4	1310	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	424					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TCTTTCCTAGCGCCTGAGAAG	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15414	0.0		0.0	False		,,,				2504	0.0					uc001reh.2																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.e4-1		Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						90.0	89.0	90.0					12																	20769164		2203	4300	6503	SO:0001630	splice_region_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20769164C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1270-1C>T	12.37:g.20769164C>T						PDE3A_uc021qwa.1_Splice_Site_p.R102_splice	p.R424_splice	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			4	1310	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	424					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1270_splice	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849906	0.91277	.	.	ENSG00000172572	ENST00000359062	T	0.52983	0.64	5.43	5.43	0.79202	.	5.879110	0.00166	N	0.000000	T	0.73233	0.3561	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55970	-0.8056	9	.	.	.	.	19.5966	0.95541	0.0:1.0:0.0:0.0	.	424	Q14432	PDE3A_HUMAN	C	424	ENSP00000351957:R424C	.	R	+	1	0	PDE3A	20660431	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.085000	0.76875	2.698000	0.92095	0.655000	0.94253	CGC		0.428	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		Missense_Mutation
SOAT2	8435	broad.mit.edu	37	12	53512677	53512677	+	Silent	SNP	G	G	A	rs370273183		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:53512677G>A	ENST00000301466.3	+	9	927	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	289					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)	p.T289T(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GCTGCAGGACGCCCTATGTCA	0.532																																						uc001sbv.3																			1	Substitution - coding silent(1)	p.T289T(2)	endometrium(1)	endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(865-867)acG>acA		Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.		G		0,4406		0,0,2203	153.0	139.0	144.0		867	-5.8	0.4	12		144	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SOAT2	NM_003578.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		289/523	53512677	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53512677G>A	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.867G>A	12.37:g.53512677G>A						SOAT2_uc009zms.3_Intron	p.T289T	NM_003578	NP_003569	O75908	SOAT2_HUMAN			8	955	+			289					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.867G>A	CCDS8847.1																																																																																				0.532	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1		
CYP27B1	1594	broad.mit.edu	37	12	58158993	58158993	+	Splice_Site	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:58158993G>T	ENST00000228606.4	-	4	800	c.591C>A	c.(589-591)ggC>ggA	p.G197G	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	197					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.G197G(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CCGCGGCGATGCCTTGTCGGG	0.687											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001spz.1																			1	Substitution - coding silent(1)	p.G197G(1)	lung(1)	central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.e4-1		Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						21.0	21.0	21.0					12																	58158993		2199	4296	6495	SO:0001630	splice_region_variant	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158993G>T	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.590-1C>A	12.37:g.58158993G>T			OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	CYP27B1_uc001sqa.1_5'UTR|CYP27B1_uc001sqb.1_Splice_Site_p.R77_splice|CYP27B1_uc001sqc.1_Splice_Site_p.R77_splice	p.G197_splice	NM_000785	NP_000776	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	742	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		197					B2RC61|Q548T3	Silent	SNP	ENST00000228606.4	37	c.590_splice	CCDS8954.1																																																																																				0.687	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785	Silent
EFNB2	1948	broad.mit.edu	37	13	107187289	107187289	+	Silent	SNP	C	C	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr13:107187289C>A	ENST00000245323.4	-	1	173	c.24G>T	c.(22-24)gtG>gtT	p.V8V		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	8					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AGTACTTCCACACGGAGTCCC	0.542																																						uc001vqi.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(22-24)gtG>gtT		Homo sapiens ephrin-B2 (EFNB2), mRNA.							83.0	91.0	88.0					13																	107187289		2202	4300	6502	SO:0001819	synonymous_variant	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107187289C>A	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.24G>T	13.37:g.107187289C>A							p.V8V	NM_004093	NP_004084	P52799	EFNB2_HUMAN			0	100	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		8					Q5JV56	Silent	SNP	ENST00000245323.4	37	c.24G>T	CCDS9507.1																																																																																				0.542	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093	
CTSG	1511	broad.mit.edu	37	14	25043934	25043934	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:25043934G>T	ENST00000216336.2	-	3	322	c.286C>A	c.(286-288)Cgc>Agc	p.R96S		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	96	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGAGGGTGGCGGATGGCTCTG	0.532																																						uc001wpq.3																			0		p.R96H(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(286-288)Cgc>Agc		Homo sapiens cathepsin G (CTSG), mRNA.							219.0	175.0	190.0					14																	25043934		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043934G>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.286C>A	14.37:g.25043934G>T	ENSP00000216336:p.Arg96Ser						p.R96S	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	2	323	-			96			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.286C>A	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328222	0.41197	.	.	ENSG00000100448	ENST00000216336	D	0.92965	-3.14	5.14	4.22	0.49857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.559992	0.13176	N	0.407885	D	0.85186	0.5639	N	0.16016	0.355	0.37531	D	0.91793	B	0.28178	0.202	B	0.31547	0.132	T	0.82297	-0.0527	10	0.36615	T	0.2	.	11.4846	0.50346	0.0:0.0:0.8199:0.18	.	96	P08311	CATG_HUMAN	S	96	ENSP00000216336:R96S	ENSP00000216336:R96S	R	-	1	0	CTSG	24113774	0.996000	0.38824	0.896000	0.35187	0.017000	0.09413	3.373000	0.52394	1.437000	0.47472	0.655000	0.94253	CGC		0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911	
LRFN5	145581	broad.mit.edu	37	14	42356801	42356801	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:42356801G>T	ENST00000298119.4	+	3	2162	c.973G>T	c.(973-975)Ggg>Tgg	p.G325W	LRFN5_ENST00000554120.1_Missense_Mutation_p.G325W|LRFN5_ENST00000554171.1_Missense_Mutation_p.G325W	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	325	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCTCCTGAAGGGAAGCTTAT	0.453										HNSCC(30;0.082)																												uc001wvm.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(973-975)Ggg>Tgg		Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.							125.0	122.0	123.0					14																	42356801		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356801G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.973G>T	14.37:g.42356801G>T	ENSP00000298119:p.Gly325Trp	HNSCC(30;0.082)				LRFN5_uc010ana.3_Missense_Mutation_p.G325W	p.G325W	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	2	2171	+			325			Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.973G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314670	0.60524	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.67345	-0.26;-0.26;-0.26	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000024	D	0.88492	0.6451	H	0.97390	3.995	0.80722	D	1	D;D	0.71674	0.989;0.998	D;D	0.85130	0.99;0.997	D	0.92209	0.5774	10	0.87932	D	0	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	325;325	G3V364;Q96NI6	.;LRFN5_HUMAN	W	325	ENSP00000298119:G325W;ENSP00000451897:G325W;ENSP00000451067:G325W	ENSP00000298119:G325W	G	+	1	0	LRFN5	41426551	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.727000	0.74764	2.680000	0.91292	0.563000	0.77884	GGG		0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
FOXN3	1112	broad.mit.edu	37	14	89647054	89647054	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:89647054G>A	ENST00000345097.4	-	6	1024	c.908C>T	c.(907-909)gCg>gTg	p.A303V	FOXN3_ENST00000557258.1_Missense_Mutation_p.A281V|FOXN3_ENST00000555353.1_Missense_Mutation_p.A281V|FOXN3_ENST00000261302.5_Missense_Mutation_p.A303V	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	303					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTCATGGCCGCTGTCACCCC	0.637																																						uc001xxo.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(907-909)gCg>gTg		Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.							21.0	20.0	20.0					14																	89647054		2203	4297	6500	SO:0001583	missense	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|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|protein C-terminus 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.chr14:89647054G>A		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.908C>T	14.37:g.89647054G>A	ENSP00000343288:p.Ala303Val					FOXN3_uc001xxn.4_Missense_Mutation_p.A281V|FOXN3_uc010atk.3_Missense_Mutation_p.A281V	p.A303V	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN			5	1045	-			303					Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	37	c.908C>T	CCDS41977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.75|11.75	1.730328|1.730328	0.30684|0.30684	.|.	.|.	ENSG00000053254|ENSG00000053254	ENST00000557572;ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353|ENST00000553840	D;D;D;D|.	0.95035|.	-3.59;-3.59;-3.42;-3.42|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.201588|.	0.40728|.	N|.	0.001026|.	T|T	0.51500|0.51500	0.1678|0.1678	N|N	0.22421|0.22421	0.69|0.69	0.45648|0.45648	D|D	0.998574|0.998574	B;B|.	0.15719|.	0.005;0.014|.	B;B|.	0.12156|.	0.002;0.007|.	T|T	0.46133|0.46133	-0.9213|-0.9213	10|5	0.36615|.	T|.	0.2|.	.|.	13.7806|13.7806	0.63081|0.63081	0.0756:0.0:0.9244:0.0|0.0756:0.0:0.9244:0.0	.|.	303;281|.	O00409;O00409-2|.	FOXN3_HUMAN;.|.	V|W	12;303;303;281;281|152	ENSP00000343288:A303V;ENSP00000261302:A303V;ENSP00000452005:A281V;ENSP00000452227:A281V|.	ENSP00000261302:A303V|.	A|R	-|-	2|1	0|2	FOXN3|FOXN3	88716807|88716807	0.980000|0.980000	0.34600|0.34600	0.948000|0.948000	0.38648|0.38648	0.144000|0.144000	0.21451|0.21451	2.784000|2.784000	0.47774|0.47774	2.609000|2.609000	0.88269|0.88269	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.637	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197	
BAHD1	22893	broad.mit.edu	37	15	40758215	40758215	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr15:40758215C>T	ENST00000416165.1	+	7	2300	c.2229C>T	c.(2227-2229)gaC>gaT	p.D743D	BAHD1_ENST00000560846.1_Silent_p.D740D|BAHD1_ENST00000561234.1_Silent_p.D742D|RP11-64K12.8_ENST00000559730.1_RNA	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	743	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCTCTGCAGACTATTCCACCC	0.602																																						uc001zlu.2																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(2227-2229)gaC>gaT		Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.							136.0	128.0	131.0					15																	40758215		2203	4300	6503	SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40758215C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.2229C>T	15.37:g.40758215C>T						BAHD1_uc001zlt.2_Silent_p.D742D|BAHD1_uc010bbp.1_Silent_p.D739D|BAHD1_uc001zlv.2_Silent_p.D740D	p.D743D	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	6	2300	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	743			BAH.		Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.2229C>T	CCDS10058.1																																																																																				0.602	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952	
TARSL2	123283	broad.mit.edu	37	15	102242566	102242566	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr15:102242566C>T	ENST00000335968.3	-	9	1313	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	366					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCGGATTGCCCTCCCAATA	0.353																																						uc002bxm.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1096-1098)gGc>gAc		Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.							132.0	117.0	122.0					15																	102242566		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102242566C>T	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1097G>A	15.37:g.102242566C>T	ENSP00000338093:p.Gly366Asp					TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	p.G366D	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	1152	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		366					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.1097G>A	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174082	0.78452	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.48	4.57	0.56435	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.049228	0.85682	N	0.000000	D	0.82614	0.5075	H	0.98027	4.13	0.80722	D	1	P	0.43314	0.803	P	0.47827	0.558	D	0.86781	0.1979	9	0.59425	D	0.04	-9.0206	12.098	0.53765	0.0:0.917:0.0:0.083	.	366	A2RTX5	SYTC2_HUMAN	D	366;271;366	.	ENSP00000329291:G271D	G	-	2	0	TARSL2	100060089	1.000000	0.71417	0.909000	0.35828	0.997000	0.91878	4.767000	0.62286	1.323000	0.45263	0.655000	0.94253	GGC		0.353	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334	
IL32	9235	broad.mit.edu	37	16	3119233	3119233	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:3119233C>T	ENST00000534507.1	+	6	793	c.582C>T	c.(580-582)ttC>ttT	p.F194F	IL32_ENST00000526464.2_Silent_p.F148F|IL32_ENST00000552664.1_Silent_p.F148F|IL32_ENST00000529550.1_Silent_p.F148F|IL32_ENST00000531965.1_Silent_p.F138F|IL32_ENST00000549213.1_Intron|IL32_ENST00000551122.1_Intron|IL32_ENST00000396887.3_Intron|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000533097.2_Silent_p.F148F|IL32_ENST00000440815.3_Silent_p.F148F|IL32_ENST00000528163.2_Silent_p.F148F|IL32_ENST00000548476.1_Silent_p.F194F|IL32_ENST00000325568.5_Silent_p.F148F|IL32_ENST00000382213.3_Silent_p.F139F|IL32_ENST00000548652.1_Silent_p.F139F|IL32_ENST00000548246.1_Silent_p.F108F|IL32_ENST00000396890.2_Silent_p.F194F|IL32_ENST00000552356.1_Silent_p.F128F|IL32_ENST00000551513.1_Silent_p.F185F|IL32_ENST00000530538.2_Silent_p.F148F|IL32_ENST00000525643.2_Silent_p.F148F|IL32_ENST00000530890.1_Silent_p.F128F|IL32_ENST00000529699.1_Silent_p.F128F|IL32_ENST00000444393.3_Silent_p.F148F|IL32_ENST00000552936.1_Silent_p.F172F|IL32_ENST00000008180.9_Silent_p.F128F			P24001	IL32_HUMAN	interleukin 32	194					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGAAACAGTTCCAGAGTTTCT	0.612																																						uc002ctq.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(580-582)ttC>ttT		Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.							73.0	87.0	82.0					16																	3119233		2197	4300	6497	SO:0001819	synonymous_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119233C>T	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.582C>T	16.37:g.3119233C>T						IL32_uc002ctn.3_Silent_p.F148F|IL32_uc002ctk.3_Intron|IL32_uc002cto.3_Silent_p.F194F|IL32_uc010uwp.2_Silent_p.F128F|IL32_uc010btb.3_Silent_p.F138F|IL32_uc002ctl.3_Silent_p.F148F|IL32_uc002ctm.3_Silent_p.F148F|IL32_uc002ctp.3_Silent_p.F128F|IL32_uc002ctr.3_Silent_p.F128F|IL32_uc002ctt.3_Silent_p.F148F|IL32_uc010uwr.2_Silent_p.F108F|IL32_uc002ctu.3_Silent_p.F139F|IL32_uc021tbc.1_Intron	p.F194F	NM_004221	NP_004212	P24001	IL32_HUMAN			5	677	+			194					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Silent	SNP	ENST00000534507.1	37	c.582C>T																																																																																					0.612	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221	
ITGAM	3684	broad.mit.edu	37	16	31309135	31309135	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:31309135G>T	ENST00000287497.8	+	14	1642	c.1567G>T	c.(1567-1569)Gcc>Tcc	p.A523S	ITGAM_ENST00000544665.3_Missense_Mutation_p.A524S			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	523					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTTGGGGCAGCCCTAACAGT	0.607																																						uc002ebr.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1570-1572)Gcc>Tcc		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							66.0	72.0	70.0					16																	31309135		2180	4287	6467	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31309135G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1567G>T	16.37:g.31309135G>T	ENSP00000287497:p.Ala523Ser					ITGAM_uc002ebq.3_Missense_Mutation_p.A523S|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_Intron	p.A524S	NM_001145808	NP_001139280	P11215	ITAM_HUMAN			13	1668	+			523					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1570G>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201300	0.58234	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.23950	1.88;1.88	3.76	3.76	0.43208	.	.	.	.	.	T	0.33847	0.0877	N	0.25485	0.75	0.26964	N	0.96574	P;P	0.48407	0.91;0.91	D;D	0.64410	0.925;0.925	T	0.08330	-1.0727	9	0.30854	T	0.27	.	11.2861	0.49222	0.0:0.0:1.0:0.0	.	523;523	Q4VAK1;P11215	.;ITAM_HUMAN	S	524;523	ENSP00000441691:A524S;ENSP00000287497:A523S	ENSP00000287497:A523S	A	+	1	0	ITGAM	31216636	0.275000	0.24201	1.000000	0.80357	0.982000	0.71751	1.655000	0.37345	2.090000	0.63153	0.655000	0.94253	GCC		0.607	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
CHST5	23563	broad.mit.edu	37	16	75564025	75564025	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:75564025G>A	ENST00000336257.3	-	3	1652	c.258C>T	c.(256-258)ccC>ccT	p.P86P	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.P92P	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	86					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGAAGACGTCGGGGTGCTGGC	0.677																																						uc002fej.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(274-276)ccC>ccT		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.							40.0	37.0	38.0					16																	75564025		2198	4300	6498	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75564025G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.258C>T	16.37:g.75564025G>A						CHST5_uc002fei.3_Silent_p.P86P|CHST5_uc021tlk.1_Silent_p.P86P	p.P92P	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			4	597	-			86					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.276C>T	CCDS10919.1																																																																																				0.677	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126	
SUPT6H	6830	broad.mit.edu	37	17	27010834	27010834	+	Splice_Site	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr17:27010834G>A	ENST00000314616.6	+	17	2512	c.2229G>A	c.(2227-2229)aaG>aaA	p.K743K	SUPT6H_ENST00000347486.4_Splice_Site_p.K743K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	743	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ATGTCATAAAGGTGAGGACAG	0.478																																						uc010crt.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.e18+1		Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.							45.0	46.0	45.0					17																	27010834		2203	4300	6503	SO:0001630	splice_region_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27010834G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2229+1G>A	17.37:g.27010834G>A						SUPT6H_uc002hby.3_Splice_Site_p.K743_splice	p.K743_splice	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			18	2421	+	Lung NSC(42;0.00431)		743					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.2229_splice	CCDS32596.1																																																																																				0.478	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	Silent
DSG4	147409	broad.mit.edu	37	18	28968937	28968937	+	Missense_Mutation	SNP	C	C	T	rs369555342		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr18:28968937C>T	ENST00000308128.4	+	5	608	c.473C>T	c.(472-474)tCg>tTg	p.S158L	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.S158L	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S158L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCAGTCTTTTCGCAAAGTGTA	0.413																																						uc002kwr.2																			1	Substitution - Missense(1)	p.S158L(2)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(472-474)tCg>tTg		Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.		C	LEU/SER,LEU/SER	0,4406		0,0,2203	104.0	100.0	101.0		473,473	6.1	0.8	18		101	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	DSG4	NM_001134453.1,NM_177986.3	145,145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	158/1060,158/1041	28968937	1,13003	2203	4299	6502	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28968937C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.473C>T	18.37:g.28968937C>T	ENSP00000311859:p.Ser158Leu					DSG4_uc002kwq.2_Missense_Mutation_p.S158L	p.S158L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		4	608	+			158		Missing (in LAH1).	Cadherin 2.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.473C>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263611	0.59431	0.0	1.16E-4	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.61040	0.14;0.14	6.11	6.11	0.99139	Cadherin (3);Cadherin-like (1);	0.242046	0.21442	N	0.074461	T	0.56108	0.1963	M	0.69463	2.115	0.32283	N	0.567384	P;P	0.43431	0.807;0.549	B;B	0.36244	0.22;0.158	T	0.64698	-0.6346	10	0.25106	T	0.35	.	18.9147	0.92501	0.0:1.0:0.0:0.0	.	158;158	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	L	158	ENSP00000311859:S158L;ENSP00000352785:S158L	ENSP00000311859:S158L	S	+	2	0	DSG4	27222935	1.000000	0.71417	0.836000	0.33094	0.845000	0.48019	6.096000	0.71446	2.906000	0.99361	0.655000	0.94253	TCG		0.413	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
ZNF57	126295	broad.mit.edu	37	19	2918067	2918067	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:2918067A>G	ENST00000306908.5	+	4	1596	c.1448A>G	c.(1447-1449)aAa>aGa	p.K483R	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.K451R	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CAATGTGGAAAAACCTTCACT	0.448																																					NSCLC(150;910 1964 4303 10464 26498)	uc002lwr.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1447-1449)aAa>aGa		Homo sapiens zinc finger protein 57 (ZNF57), mRNA.							107.0	88.0	94.0					19																	2918067		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2918067A>G	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1448A>G	19.37:g.2918067A>G	ENSP00000303696:p.Lys483Arg					ZNF57_uc010xha.2_Missense_Mutation_p.K451R	p.K483R	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1596	+			483					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1448A>G	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416224	0.42918	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.26223	1.75;1.75	2.25	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45316	0.1336	M	0.78049	2.395	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.20371	-1.0277	9	0.62326	D	0.03	.	5.3559	0.16061	0.8405:0.0:0.1595:0.0	.	483	Q68EA5	ZNF57_HUMAN	R	483;485;451	ENSP00000303696:K483R;ENSP00000430223:K451R	ENSP00000303696:K483R	K	+	2	0	ZNF57	2869067	0.948000	0.32251	0.001000	0.08648	0.019000	0.09904	3.737000	0.55060	0.135000	0.18707	0.418000	0.28097	AAA		0.448	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480	
MUC16	94025	broad.mit.edu	37	19	9062081	9062081	+	Silent	SNP	G	G	C	rs201528861	byFrequency	TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:9062081G>C	ENST00000397910.4	-	3	25568	c.25365C>G	c.(25363-25365)tcC>tcG	p.S8455S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8457	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCCCTAGAGGATATCACTT	0.522																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(25363-25365)tcC>tcG		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							126.0	120.0	122.0					19																	9062081		1986	4157	6143	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062081G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25365C>G	19.37:g.9062081G>C							p.S8455S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	25569	-			8457			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.25365C>G	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
FBXL12	54850	broad.mit.edu	37	19	9921682	9921682	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:9921682C>T	ENST00000247977.4	-	3	1112	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.G238R|FBXL12_ENST00000591009.1_Missense_Mutation_p.G238R	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	291					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CACCCCAGCCCCTGCAGCTCA	0.612																																						uc002mme.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						c.(871-873)Ggg>Agg		Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.							28.0	29.0	29.0					19																	9921682		2203	4300	6503	SO:0001583	missense	54850						protein binding	g.chr19:9921682C>T	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.871G>A	19.37:g.9921682C>T	ENSP00000247977:p.Gly291Arg					FBXL12_uc002mmd.3_Missense_Mutation_p.G238R|FBXL12_uc002mmf.3_Missense_Mutation_p.G238R|FBXL12_uc002mmg.3_Missense_Mutation_p.G238R	p.G291R	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN			2	1113	-			291					B3KSJ8|Q9H5K4	Missense_Mutation	SNP	ENST00000247977.4	37	c.871G>A	CCDS12218.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294064	0.81025	.	.	ENSG00000127452	ENST00000247977	T	0.19806	2.12	4.51	4.51	0.55191	.	0.079672	0.48767	D	0.000161	T	0.27454	0.0674	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.01725	-1.1287	9	.	.	.	.	12.9418	0.58350	0.0:1.0:0.0:0.0	.	291	Q9NXK8	FXL12_HUMAN	R	291	ENSP00000247977:G291R	.	G	-	1	0	FBXL12	9782682	0.997000	0.39634	1.000000	0.80357	0.959000	0.62525	3.959000	0.56744	2.509000	0.84616	0.563000	0.77884	GGG		0.612	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703	
JAK3	3718	broad.mit.edu	37	19	17945947	17945947	+	Silent	SNP	C	C	T	rs200499852		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:17945947C>T	ENST00000527670.1	-	14	2021	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_ENST00000534444.1_Silent_p.P664P|JAK3_ENST00000458235.1_Silent_p.P664P			P52333	JAK3_HUMAN	Janus kinase 3	664	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGATGAAGGGCGGGCTCCCAT	0.637		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.4		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1990-1992)ccG>ccA		Homo sapiens Janus kinase 3 (JAK3), mRNA.		C		0,4406		0,0,2203	49.0	48.0	48.0		1992	-9.8	0.1	19		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAK3	NM_000215.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		664/1125	17945947	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17945947C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1992G>A	19.37:g.17945947C>T						JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Silent_p.P664P	p.P664P	NM_000215	NP_000206	P52333	JAK3_HUMAN			14	2092	-			664			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1992G>A	CCDS12366.1																																																																																				0.637	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	
CD22	933	broad.mit.edu	37	19	35837570	35837570	+	Missense_Mutation	SNP	A	A	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:35837570A>C	ENST00000085219.5	+	14	2580	c.2514A>C	c.(2512-2514)gaA>gaC	p.E838D	CD22_ENST00000270311.6_Missense_Mutation_p.E653D|CD22_ENST00000536635.2_Missense_Mutation_p.E750D|CD22_ENST00000341773.6_Missense_Mutation_p.E661D|CD22_ENST00000419549.2_Missense_Mutation_p.E666D|CD22_ENST00000544992.2_3'UTR|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000594250.1_Missense_Mutation_p.E661D	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	838					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGCACAAGAAAATGTGGACT	0.552																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2512-2514)gaA>gaC		Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	OspA lipoprotein(DB00045)						55.0	47.0	49.0					19																	35837570		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35837570A>C	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2514A>C	19.37:g.35837570A>C	ENSP00000085219:p.Glu838Asp					CD22_uc010edu.3_Missense_Mutation_p.E750D|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.E661D|CD22_uc010xst.2_Missense_Mutation_p.E666D|CD22_uc010edx.3_Non-coding_Transcript	p.E838D	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		13	2598	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		838					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2514A>C	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.228190	0.39399	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.63580	0.54;0.06;-0.05;0.08;0.62	4.58	2.51	0.30379	.	0.261745	0.27122	N	0.020834	T	0.59985	0.2234	L	0.49126	1.545	0.09310	N	1	B;P;B;P	0.46912	0.289;0.77;0.289;0.886	B;B;B;P	0.50659	0.07;0.417;0.07;0.647	T	0.51513	-0.8696	10	0.49607	T	0.09	.	5.72	0.17982	0.7857:0.0:0.2143:0.0	.	666;750;838;661	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	D	838;750;661;653;666	ENSP00000085219:E838D;ENSP00000442279:E750D;ENSP00000339349:E661D;ENSP00000270311:E653D;ENSP00000403822:E666D	ENSP00000085219:E838D	E	+	3	2	CD22	40529410	0.057000	0.20700	0.016000	0.15963	0.066000	0.16364	0.079000	0.14782	0.321000	0.23259	0.378000	0.23410	GAA		0.552	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
SIPA1L3	23094	broad.mit.edu	37	19	38572329	38572329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:38572329C>T	ENST00000222345.6	+	3	633	c.124C>T	c.(124-126)Cag>Tag	p.Q42*		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	42					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATTCTGGGCCCAGAATGGCAG	0.706																																						uc002ohk.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(124-126)Cag>Tag		Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.							21.0	21.0	21.0					19																	38572329		2202	4296	6498	SO:0001587	stop_gained	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572329C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.124C>T	19.37:g.38572329C>T	ENSP00000222345:p.Gln42*						p.Q42*	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	633	+			42					Q2TV87	Nonsense_Mutation	SNP	ENST00000222345.6	37	c.124C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	38	7.188986	0.98125	.	.	ENSG00000105738	ENST00000222345	.	.	.	5.08	5.08	0.68730	.	0.000000	0.41712	D	0.000835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.1685	17.233	0.86990	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000222345:Q42X	Q	+	1	0	SIPA1L3	43264169	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	4.935000	0.63498	2.346000	0.79739	0.563000	0.77884	CAG		0.706	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
ZNF285	26974	broad.mit.edu	37	19	44891167	44891167	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:44891167C>T	ENST00000330997.4	-	4	1304	c.1240G>A	c.(1240-1242)Gtt>Att	p.V414I	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.V414I|ZNF285_ENST00000591679.1_Missense_Mutation_p.V421I	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACTTGAAGAACGGAGCTTGAA	0.488																																						uc010xxa.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						c.(1261-1263)Gtt>Att		Homo sapiens zinc finger protein 285 (ZNF285), mRNA.							50.0	49.0	49.0					19																	44891167		2203	4299	6502	SO:0001583	missense	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44891167C>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1240G>A	19.37:g.44891167C>T	ENSP00000333595:p.Val414Ile					ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.V414I	p.V421I	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN			3	1304	-			707					Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1261G>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357751	0.24598	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.15017	2.46	3.36	-4.36	0.03645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	N	0.13299	0.325	0.09310	N	1	B;B	0.20671	0.022;0.047	B;B	0.15484	0.005;0.013	T	0.39461	-0.9613	9	0.23302	T	0.38	.	6.0828	0.19950	0.0:0.4365:0.1864:0.3771	.	438;414	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	I	437;414	ENSP00000333595:V414I	ENSP00000333595:V414I	V	-	1	0	ZNF285	49583007	0.000000	0.05858	0.000000	0.03702	0.883000	0.51084	-4.996000	0.00162	-0.544000	0.06232	0.298000	0.19748	GTT		0.488	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	
CKM	1158	broad.mit.edu	37	19	45821144	45821144	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:45821144C>T	ENST00000221476.3	-	3	461	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	96	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCCCCCGTGGCGATCCGAGAT	0.582																																						uc002pbd.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(286-288)cGc>cAc		Homo sapiens creatine kinase, muscle (CKM), mRNA.	Creatine(DB00148)						133.0	107.0	116.0					19																	45821144		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45821144C>T	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.287G>A	19.37:g.45821144C>T	ENSP00000221476:p.Arg96His						p.R96H	NM_001824	NP_001815	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	2	460	-		Ovarian(192;0.0336)|all_neural(266;0.112)	96			Phosphagen kinase N-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.287G>A	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001354	0.74818	.	.	ENSG00000104879	ENST00000221476	T	0.65916	-0.18	4.62	4.62	0.57501	ATP:guanido phosphotransferase, N-terminal (4);	0.064020	0.64402	D	0.000004	T	0.81697	0.4877	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.85303	0.1074	10	0.59425	D	0.04	-27.7907	15.0581	0.71930	0.0:1.0:0.0:0.0	.	96	P06732	KCRM_HUMAN	H	96	ENSP00000221476:R96H	ENSP00000221476:R96H	R	-	2	0	CKM	50512984	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	7.236000	0.78154	2.418000	0.82041	0.650000	0.86243	CGC		0.582	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1		
ZNF805	390980	broad.mit.edu	37	19	57765629	57765629	+	Missense_Mutation	SNP	A	A	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:57765629A>C	ENST00000414468.2	+	4	1442	c.1442A>C	c.(1441-1443)aAg>aCg	p.K481T	ZNF805_ENST00000535550.1_Missense_Mutation_p.K348T|ZNF805_ENST00000354309.4_Missense_Mutation_p.K348T	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACTGGAGAGAAGCCCTATGAG	0.527																																						uc010ygt.2																			0				breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						c.(1441-1443)aAg>aCg		Homo sapiens zinc finger protein 805 (ZNF805), transcript variant 1, mRNA.							55.0	57.0	56.0					19																	57765629		692	1591	2283	SO:0001583	missense	390980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57765629A>C	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1442A>C	19.37:g.57765629A>C	ENSP00000412999:p.Lys481Thr					ZNF805_uc010ygu.2_Missense_Mutation_p.K348T|ZNF805_uc021vcj.1_Missense_Mutation_p.K348T	p.K481T	NM_001023563	NP_001138550	Q5CZA5	ZN805_HUMAN			3	1649	+			481					B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	c.1442A>C	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.640104	0.67244	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.24908	1.83;1.83;1.83	4.21	4.21	0.49690	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000085	T	0.52549	0.1741	M	0.84326	2.69	0.30825	N	0.73733	D	0.89917	1.0	D	0.97110	1.0	T	0.61407	-0.7069	10	0.87932	D	0	.	12.6663	0.56844	1.0:0.0:0.0:0.0	.	481	Q5CZA5	ZN805_HUMAN	T	348;481;348	ENSP00000440067:K348T;ENSP00000412999:K481T;ENSP00000365414:K348T	ENSP00000365414:K348T	K	+	2	0	ZNF805	62457441	.	.	1.000000	0.80357	0.997000	0.91878	.	.	1.881000	0.54492	0.460000	0.39030	AAG		0.527	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563	
C2orf70	339778	broad.mit.edu	37	2	26798883	26798883	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:26798883C>T	ENST00000329615.3	+	2	219	c.188C>T	c.(187-189)cCc>cTc	p.P63L	C2orf70_ENST00000409392.1_Silent_p.S50S	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	63						nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						AGCCACACTCCCTTCAGCCAA	0.637																																						uc010eyn.3																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						c.(187-189)cCc>cTc		Homo sapiens chromosome 2 open reading frame 70 (C2orf70), mRNA.							115.0	124.0	121.0					2																	26798883		2098	4230	6328	SO:0001583	missense	339778							g.chr2:26798883C>T		CCDS42661.1	2p23.3	2011-05-09			ENSG00000173557	ENSG00000173557			27938	protein-coding gene	gene with protein product	"""hypothetical protein LOC339778"""						Standard	NM_001105519		Approved	LOC339778	uc010eyn.3	A6NJV1	OTTHUMG00000151994	ENST00000329615.3:c.188C>T	2.37:g.26798883C>T	ENSP00000332875:p.Pro63Leu						p.P63L	NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN			1	188	+			63						Missense_Mutation	SNP	ENST00000329615.3	37	c.188C>T	CCDS42661.1	.	.	.	.	.	.	.	.	.	.	C	2.401	-0.337675	0.05278	.	.	ENSG00000173557	ENST00000329615	T	0.41758	0.99	4.68	0.577	0.17385	.	1.172930	0.06286	N	0.698262	T	0.30759	0.0775	L	0.41236	1.265	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.21586	-1.0241	10	0.21014	T	0.42	-1.9802	5.0218	0.14365	0.0:0.5646:0.1544:0.281	.	63	A6NJV1	CB070_HUMAN	L	63	ENSP00000332875:P63L	ENSP00000332875:P63L	P	+	2	0	C2orf70	26652387	0.001000	0.12720	0.000000	0.03702	0.164000	0.22412	0.005000	0.13129	-0.213000	0.10094	0.313000	0.20887	CCC		0.637	C2orf70-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353258.1	NM_001105519	
VAMP5	10791	broad.mit.edu	37	2	85818867	85818867	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:85818867G>A	ENST00000306384.4	+	2	106	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	8	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						GAGTTGGAGCGGTGCCAGCAG	0.602																																						uc002spu.1																			0		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						c.(22-24)cGg>cAg		Homo sapiens vesicle-associated membrane protein 5 (myobrevin) (VAMP5), mRNA.							107.0	91.0	96.0					2																	85818867		2203	4300	6503	SO:0001583	missense	10791				cell differentiation|vesicle-mediated transport	endomembrane system		g.chr2:85818867G>A	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.23G>A	2.37:g.85818867G>A	ENSP00000305647:p.Arg8Gln						p.R8Q	NM_006634	NP_006625	O95183	VAMP5_HUMAN			1	106	+			8			v-SNARE coiled-coil homology.		Q9P0T2	Missense_Mutation	SNP	ENST00000306384.4	37	c.23G>A	CCDS1980.1	.	.	.	.	.	.	.	.	.	.	G	5.245	0.230696	0.09969	.	.	ENSG00000168899	ENST00000306384	T	0.39592	1.07	4.84	1.75	0.24633	Synaptobrevin (2);	0.510677	0.16936	N	0.193481	T	0.15262	0.0368	N	0.05383	-0.06	0.21416	N	0.999693	B	0.20671	0.047	B	0.15484	0.013	T	0.29701	-1.0003	10	0.02654	T	1	.	4.3255	0.11038	0.1972:0.0:0.6264:0.1763	.	8	O95183	VAMP5_HUMAN	Q	8	ENSP00000305647:R8Q	ENSP00000305647:R8Q	R	+	2	0	VAMP5	85672378	0.084000	0.21492	0.932000	0.37286	0.991000	0.79684	-0.133000	0.10451	0.433000	0.26313	0.561000	0.74099	CGG		0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634	
SEMA4C	54910	broad.mit.edu	37	2	97533539	97533539	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:97533539G>A	ENST00000305476.5	-	2	217	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	29					cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GTCTTACGCGGCACAAGGTTC	0.642																																						uc002sxg.4																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17								Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.							165.0	149.0	155.0					2																	97533539		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97533539G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.85C>T	2.37:g.97533539G>A	ENSP00000306844:p.Pro29Ser					SEMA4C_uc002sxh.4_Missense_Mutation_p.P29S		NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN					-								Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37		CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312270	0.81358	.	.	ENSG00000168758	ENST00000305476;ENST00000442264;ENST00000449330	T;T;T	0.59638	1.43;0.25;0.25	4.3	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (1);	0.285799	0.25277	N	0.031836	T	0.62097	0.2400	N	0.24115	0.695	0.38811	D	0.955416	D	0.89917	1.0	D	0.97110	1.0	T	0.67968	-0.5533	10	0.87932	D	0	.	12.123	0.53902	0.0:0.0:1.0:0.0	.	29	Q9C0C4	SEM4C_HUMAN	S	29	ENSP00000306844:P29S;ENSP00000393498:P29S;ENSP00000391094:P29S	ENSP00000306844:P29S	P	-	1	0	SEMA4C	96897266	0.004000	0.15560	1.000000	0.80357	0.838000	0.47535	0.611000	0.24268	2.224000	0.72417	0.491000	0.48974	CCG		0.642	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789	
GGTLC1	92086	broad.mit.edu	37	20	23967182	23967182	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:23967182A>G	ENST00000335694.4	-	2	271	c.67T>C	c.(67-69)Tcc>Ccc	p.S23P	GGTLC1_ENST00000278765.4_Missense_Mutation_p.S23P|GGTLC1_ENST00000286890.4_Missense_Mutation_p.S23P	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	23					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TTGTAGTAGGAGATCGGGTGA	0.632																																						uc002wts.3																			0		p.S23Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(67-69)Tcc>Ccc		Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.							67.0	65.0	66.0					20																	23967182		2203	4298	6501	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967182A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.67T>C	20.37:g.23967182A>G	ENSP00000337587:p.Ser23Pro					GGTLC1_uc002wtu.3_Missense_Mutation_p.S23P|DQ583395_uc021wbk.1_5'Flank	p.S23P	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			1	200	-			23					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.67T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	13.27	2.186450	0.38609	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.07688	3.17;3.17;3.17	0.844	-1.69	0.08186	.	0.751002	0.12626	N	0.452640	T	0.15565	0.0375	M	0.66378	2.025	0.20307	N	0.999914	P	0.52316	0.952	P	0.57009	0.811	T	0.10382	-1.0632	10	0.56958	D	0.05	-43.5766	4.5019	0.11869	0.3709:0.6289:0.0:1.0E-4	.	23	Q9BX51	GGTL1_HUMAN	P	23	ENSP00000286890:S23P;ENSP00000278765:S23P;ENSP00000337587:S23P	ENSP00000278765:S23P	S	-	1	0	GGTLC1	23915182	0.017000	0.18338	0.067000	0.19924	0.067000	0.16453	0.015000	0.13355	0.077000	0.16863	0.076000	0.15429	TCC		0.632	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2	
MATN4	8785	broad.mit.edu	37	20	43922452	43922452	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:43922452C>T	ENST00000372754.1	-	10	1832	c.1824G>A	c.(1822-1824)acG>acA	p.T608T	MATN4_ENST00000537548.1_Silent_p.T567T|MATN4_ENST00000360607.6_Silent_p.T526T|MATN4_ENST00000353917.5_Silent_p.T485T|MATN4_ENST00000342716.4_Silent_p.T567T|MATN4_ENST00000372756.1_Silent_p.T567T|MATN4_ENST00000372751.4_Silent_p.T418T			O95460	MATN4_HUMAN	matrilin 4	608					extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CCAGGCGCGCCGTCAGCTGGG	0.687																																						uc002xnn.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1699-1701)acG>acA		Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.							27.0	30.0	29.0					20																	43922452		2203	4299	6502	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43922452C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1824G>A	20.37:g.43922452C>T						MATN4_uc002xnp.2_Silent_p.T485T|MATN4_uc002xno.2_Silent_p.T526T	p.T567T	NM_003833	NP_003824	O95460	MATN4_HUMAN			9	1888	-		Myeloproliferative disorder(115;0.0122)	608					A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.1701G>A																																																																																					0.687	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1		
FAM65C	140876	broad.mit.edu	37	20	49232571	49232571	+	Missense_Mutation	SNP	G	G	A	rs147229572	byFrequency	TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:49232571G>A	ENST00000327979.2	-	4	715	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	MIR1302-5_ENST00000408164.1_RNA|FAM65C_ENST00000045083.2_Missense_Mutation_p.R102C|FAM65C_ENST00000535356.1_Missense_Mutation_p.R106C			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	102								p.R102C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTTTGTGGCGTCCAGACAGG	0.542													G|||	2	0.000399361	0.0	0.0	5008	,	,		19561	0.0		0.0	False		,,,				2504	0.002					uc010zyt.2																			2	Substitution - Missense(2)	p.R102C(2)	large_intestine(1)|prostate(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(316-318)Cgc>Tgc		Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.		G	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	105.0	91.0	96.0		304	-0.7	0.1	20	dbSNP_134	96	0,8600		0,0,4300	no	missense	FAM65C	NM_080829.2	180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	102/947	49232571	4,13002	2203	4300	6503	SO:0001583	missense	140876							g.chr20:49232571G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.304C>T	20.37:g.49232571G>A	ENSP00000332663:p.Arg102Cys					FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.R102C|FAM65C_uc002xvn.1_Missense_Mutation_p.R102C	p.R106C	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			3	567	-			102					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.316C>T	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474409	0.26423	9.08E-4	0.0	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.02216	4.39;4.39;4.39	5.07	-0.7	0.11273	.	0.321942	0.34700	N	0.003757	T	0.01627	0.0052	L	0.27053	0.805	0.22693	N	0.998845	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.43310	-0.9399	10	0.49607	T	0.09	-14.0537	5.2312	0.15422	0.3895:0.0:0.4795:0.131	.	106;102	F5H0X2;Q96MK2	.;FA65C_HUMAN	C	102;102;106	ENSP00000332663:R102C;ENSP00000045083:R102C;ENSP00000439802:R106C	ENSP00000045083:R102C	R	-	1	0	FAM65C	48665978	0.983000	0.35010	0.123000	0.21794	0.734000	0.41952	2.692000	0.47018	-0.057000	0.13199	-0.263000	0.10527	CGC		0.542	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1		
PMEPA1	56937	broad.mit.edu	37	20	56284593	56284595	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:56284593_56284595delCGG	ENST00000341744.3	-	1	363_365	c.44_46delCCG	c.(43-48)gccggg>ggg	p.A15del	PMEPA1_ENST00000395816.3_Intron|PMEPA1_ENST00000265626.4_Intron|PMEPA1_ENST00000347215.4_Intron|PMEPA1_ENST00000472841.1_Intron	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	15					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TTGGGCTgcccggcggcggcggc	0.734																																						uc002xyq.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(43-48)gccggg>ggg		Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.			,,,	0,27,18,3913		0,0,0,0,1,0,25,0,18,1935					,,,	3.0	1.0			23	4,67,1,7672		0,0,0,4,4,0,59,0,1,3804	no	intron,intron,intron,codingComplex	PMEPA1	NM_199171.1,NM_199170.1,NM_199169.1,NM_020182.3	,,,	0,0,0,4,5,0,84,0,19,5739	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		0.9298,1.1369,0.9998	,,,	,,,		4,94,19,11585				SO:0001651	inframe_deletion	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56284593_56284595delCGG	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.44_46delCCG	20.37:g.56284602_56284604delCGG	ENSP00000345826:p.Ala15del					PMEPA1_uc002xyr.3_Intron|PMEPA1_uc002xys.3_Intron|PMEPA1_uc002xyt.3_Intron|AK056098_uc002xyu.1_5'Flank	p.A15del	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN			0	437_439	-			15					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	In_Frame_Del	DEL	ENST00000341744.3	37	c.44_46delCCG	CCDS13463.1																																																																																				0.734	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182	
TAF4	6874	broad.mit.edu	37	20	60572701	60572706	+	In_Frame_Del	DEL	TTTGTG	TTTGTG	-	rs200257941		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:60572701_60572706delTTTGTG	ENST00000252996.4	-	14	2989_2994	c.2990_2995delCACAAA	c.(2989-2997)gcacaaatg>gtg	p.997_999AQM>V		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	997					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.M999V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CGCTGTCTCATTTGTGCCAGTTCCTG	0.471																																						uc002ybs.3																			1	Substitution - Missense(1)	p.M999V(2)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2989-2997)gcacaaatg>gtg		Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.																																				SO:0001651	inframe_deletion	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60572701_60572706delTTTGTG	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2990_2995delCACAAA	20.37:g.60572701_60572706delTTTGTG	ENSP00000252996:p.Ala997_Met999delinsVal						p.997_999AQM>V	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		13	2990_2995	-	Breast(26;1e-08)		997					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	In_Frame_Del	DEL	ENST00000252996.4	37	c.2990_2995delCACAAA	CCDS33500.1																																																																																				0.471	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185	
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A	rs371252868		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr21:46011400G>A	ENST00000400368.1	-	1	986	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	322	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S322S(5)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692																																						uc002zfm.3																			5	Substitution - coding silent(5)	p.S322S(10)	endometrium(3)|urinary_tract(1)|prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(964-966)tcC>tcT		Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.							66.0	81.0	76.0					21																	46011400		2201	4300	6501	SO:0001819	synonymous_variant	386674					keratin filament		g.chr21:46011400G>A	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.966C>T	21.37:g.46011400G>A						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.S322S	NM_198688	NP_941961	P60371	KR106_HUMAN			0	987	-			322			29 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000400368.1	37	c.966C>T	CCDS42959.1																																																																																				0.692	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688	
FYCO1	79443	broad.mit.edu	37	3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	rs140583635		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:45996750G>A	ENST00000296137.2	-	14	4140	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V|FYCO1_ENST00000438446.1_5'UTR	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1312					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498																																						uc011bal.1																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3934-3936)gCg>gTg		Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.		G	VAL/ALA	0,4406		0,0,2203	176.0	181.0	179.0		3935	3.4	0.2	3	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense	FYCO1	NM_024513.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1312/1479	45996750	1,13005	2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:45996750G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3935C>T	3.37:g.45996750G>A	ENSP00000296137:p.Ala1312Val					FYCO1_uc003cpb.4_Missense_Mutation_p.A1312V	p.A1312V	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	12	4047	-			1312					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.3935C>T	CCDS2734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.144|0.144	-1.099395|-1.099395	0.01843|0.01843	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163820|ENSG00000163820	ENST00000296137;ENST00000535325|ENST00000433878	T;T|.	0.20598|.	2.06;2.13|.	5.82|5.82	3.37|3.37	0.38596|0.38596	.|.	1.153750|.	0.06193|.	N|.	0.681750|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.00436|0.00436	-1.5|-1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.32955|0.32955	-0.9887|-0.9887	10|5	0.02654|.	T|.	1|.	-2.141|-2.141	9.5319|9.5319	0.39198|0.39198	0.8598:0.0:0.1402:0.0|0.8598:0.0:0.1402:0.0	.|.	1312;1312|.	B7ZKT7;Q9BQS8|.	.;FYCO1_HUMAN|.	V|W	1312|101	ENSP00000296137:A1312V;ENSP00000441178:A1312V|.	ENSP00000296137:A1312V|.	A|R	-|-	2|1	0|2	FYCO1|FYCO1	45971754|45971754	0.324000|0.324000	0.24652|0.24652	0.162000|0.162000	0.22713|0.22713	0.435000|0.435000	0.31806|0.31806	1.668000|1.668000	0.37481|0.37481	0.435000|0.435000	0.26365|0.26365	-0.285000|-0.285000	0.09966|0.09966	GCG|CGG		0.498	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513	
PFKFB4	5210	broad.mit.edu	37	3	48563038	48563038	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:48563038C>T	ENST00000232375.3	-	10	1164	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	PFKFB4_ENST00000416568.1_Missense_Mutation_p.R344Q|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R340Q|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R317Q|PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	351	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTCCTGGTCCCGCAGGGCGAA	0.562																																						uc003ctv.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1051-1053)cGg>cAg		Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.							73.0	61.0	65.0					3																	48563038		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48563038C>T	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1052G>A	3.37:g.48563038C>T	ENSP00000232375:p.Arg351Gln					PFKFB4_uc003ctx.3_Missense_Mutation_p.R308Q|PFKFB4_uc010hkb.3_Missense_Mutation_p.R344Q|PFKFB4_uc003ctw.3_Missense_Mutation_p.R160Q|PFKFB4_uc010hkc.3_Intron|PFKFB4_uc011bbm.2_Missense_Mutation_p.R340Q|PFKFB4_uc011bbn.1_Non-coding_Transcript	p.R351Q	NM_004567	NP_004558	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	9	1069	-			351			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.1052G>A	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168250	0.94768	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000541519	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	4.1	4.1	0.47936	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.983;0.997;0.924	D	0.87504	0.2435	10	0.87932	D	0	-17.215	14.2073	0.65741	0.0:1.0:0.0:0.0	.	340;344;351	B7Z5C3;Q66S35;Q16877	.;.;F264_HUMAN	Q	351;340;344;317	ENSP00000232375:R351Q;ENSP00000438908:R340Q;ENSP00000388394:R344Q;ENSP00000437446:R317Q	ENSP00000232375:R351Q	R	-	2	0	PFKFB4	48538042	0.865000	0.29922	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.274000	0.75844	0.467000	0.42956	CGG		0.562	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567	
NISCH	11188	broad.mit.edu	37	3	52521957	52521957	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:52521957G>A	ENST00000479054.1	+	17	2521	c.2449G>A	c.(2449-2451)Gcc>Acc	p.A817T	NISCH_ENST00000345716.4_Missense_Mutation_p.A817T			Q9Y2I1	NISCH_HUMAN	nischarin	817	Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCAGCACATGGCCATGCTGTG	0.622																																						uc003ded.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2449-2451)Gcc>Acc		Homo sapiens nischarin (NISCH), mRNA.							41.0	34.0	36.0					3																	52521957		2203	4299	6502	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521957G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2449G>A	3.37:g.52521957G>A	ENSP00000418232:p.Ala817Thr					NISCH_uc003dee.4_Missense_Mutation_p.A306T|NISCH_uc003deg.1_Non-coding_Transcript	p.A817T	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	15	2583	+			817			Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2449G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658622	0.67586	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.07327	3.2;3.2	5.04	3.12	0.35913	.	0.419381	0.26895	N	0.021958	T	0.04497	0.0123	N	0.14661	0.345	0.31524	N	0.662077	P	0.39216	0.664	B	0.36092	0.217	T	0.09058	-1.0692	10	0.44086	T	0.13	-29.3432	7.5135	0.27587	0.0:0.3416:0.4097:0.2487	.	817	Q9Y2I1	NISCH_HUMAN	T	817;817;161	ENSP00000418232:A817T;ENSP00000339958:A817T	ENSP00000339958:A817T	A	+	1	0	NISCH	52496997	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.489000	0.35562	2.504000	0.84457	0.561000	0.74099	GCC		0.622	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184	
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						uc021wzo.1																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)caccat>cat		Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del					ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_In_Frame_Del_p.923_924HH>H	p.927_928HH>H	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	14	2921_2923	-			927			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
ADCY5	111	broad.mit.edu	37	3	123046533	123046533	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:123046533C>T	ENST00000462833.1	-	7	3091	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	ADCY5_ENST00000491190.1_Missense_Mutation_p.E260K|ADCY5_ENST00000309879.5_Missense_Mutation_p.E277K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	627					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.E627K(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCGTTGCGCTCGCCCCCACAG	0.642																																						uc003egh.2																			1	Substitution - Missense(1)	p.E627K(2)|p.G626G(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1879-1881)Gag>Aag		Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.							91.0	71.0	78.0					3																	123046533		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123046533C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1879G>A	3.37:g.123046533C>T	ENSP00000419361:p.Glu627Lys					ADCY5_uc021xdd.1_Missense_Mutation_p.E277K|ADCY5_uc003egg.2_Missense_Mutation_p.E260K|ADCY5_uc003egi.1_Missense_Mutation_p.E186K	p.E627K	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	6	1879	-			627					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1879G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	36	5.798012	0.96952	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.146381	0.43919	D	0.000502	D	0.87026	0.6075	L	0.41710	1.295	0.80722	D	1	P;D	0.69078	0.816;0.997	B;P	0.55965	0.375;0.788	D	0.84590	0.0666	10	0.27785	T	0.31	.	19.4472	0.94852	0.0:1.0:0.0:0.0	.	627;260	O95622;B3KWA8	ADCY5_HUMAN;.	K	627;260;277;186	ENSP00000419361:E627K;ENSP00000418537:E260K;ENSP00000308685:E277K;ENSP00000420082:E186K	ENSP00000308685:E277K	E	-	1	0	ADCY5	124529223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.578000	0.87016	0.655000	0.94253	GAG		0.642	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048	
RBP2	5948	broad.mit.edu	37	3	139195249	139195249	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:139195249T>C	ENST00000232217.2	-	1	109	c.53A>G	c.(52-54)gAg>gGg	p.E18G	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	18					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CATGTAGCCCTCAAAGTTTTC	0.562																																						uc003eth.3																			0				breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(52-54)gAg>gGg		Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	Vitamin A(DB00162)						227.0	186.0	200.0					3																	139195249		2203	4300	6503	SO:0001583	missense	5948				epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	g.chr3:139195249T>C	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"""Fatty acid binding protein family"""	9920	protein-coding gene	gene with protein product		180280	"""retinol-binding protein 2, cellular"""			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.53A>G	3.37:g.139195249T>C	ENSP00000232217:p.Glu18Gly						p.E18G	NM_004164	NP_004155	P50120	RET2_HUMAN			0	104	-			18					A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP	ENST00000232217.2	37	c.53A>G	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941218	0.73557	.	.	ENSG00000114113	ENST00000232217;ENST00000511956;ENST00000506825	T;T	0.10382	2.88;2.88	5.44	5.44	0.79542	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.348037	0.36101	N	0.002797	T	0.28001	0.0690	M	0.82323	2.585	0.80722	D	1	P	0.48503	0.911	P	0.52109	0.69	T	0.03773	-1.1005	10	0.87932	D	0	.	13.5403	0.61671	0.0:0.0:0.0:1.0	.	18	P50120	RET2_HUMAN	G	18	ENSP00000232217:E18G;ENSP00000424333:E18G	ENSP00000232217:E18G	E	-	2	0	RBP2	140677939	1.000000	0.71417	0.942000	0.38095	0.633000	0.38033	5.156000	0.64905	2.194000	0.70268	0.460000	0.39030	GAG		0.562	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	NM_004164	
PSMD2	5708	broad.mit.edu	37	3	184021749	184021749	+	Silent	SNP	T	T	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:184021749T>C	ENST00000310118.4	+	11	1896	c.1338T>C	c.(1336-1338)ctT>ctC	p.L446L	PSMD2_ENST00000435761.1_Silent_p.L287L|PSMD2_ENST00000439383.1_Silent_p.L316L|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	446					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GAGCTCTTCTTGCCTGTGGCA	0.512																																					Colon(24;313 636 6917 9932 15554)	uc003fnn.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(1336-1338)ctT>ctC		Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	Bortezomib(DB00188)						124.0	122.0	122.0					3																	184021749		2203	4300	6503	SO:0001819	synonymous_variant	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184021749T>C	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.1338T>C	3.37:g.184021749T>C						PSMD2_uc011brj.1_Silent_p.L287L|PSMD2_uc011brk.1_Silent_p.L316L	p.L446L	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1371	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		446					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Silent	SNP	ENST00000310118.4	37	c.1338T>C	CCDS3258.1																																																																																				0.512	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808	
LRRC15	131578	broad.mit.edu	37	3	194080518	194080518	+	Missense_Mutation	SNP	G	G	A	rs373084418		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:194080518G>A	ENST00000347624.3	-	2	1340	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	LRRC15_ENST00000428839.1_Missense_Mutation_p.R425W|LRRC15_ENST00000439944.2_Missense_Mutation_p.R425W	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	419					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCATACAGCCGCAGCTCACAC	0.577																																						uc003ftt.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1273-1275)Cgg>Tgg		Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.							53.0	48.0	50.0					3																	194080518		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080518G>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1255C>T	3.37:g.194080518G>A	ENSP00000306276:p.Arg419Trp					LRRC15_uc003ftu.3_Missense_Mutation_p.R419W|LRRC15_uc021xiy.1_Missense_Mutation_p.R419W	p.R425W	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1398	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		419			LRRCT.		Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1273C>T	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125167	0.20959	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.58060	0.36;0.36;0.36	5.2	-0.611	0.11601	.	0.433804	0.20199	N	0.097126	T	0.51856	0.1699	N	0.11845	0.185	0.22648	N	0.998894	B;D	0.89917	0.35;1.0	B;D	0.70016	0.055;0.967	T	0.57991	-0.7715	10	0.38643	T	0.18	.	16.8652	0.86027	0.0:0.0:0.288:0.7119	.	419;425	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	W	419;425;425	ENSP00000306276:R419W;ENSP00000389128:R425W;ENSP00000413707:R425W	ENSP00000306276:R419W	R	-	1	2	LRRC15	195561813	0.000000	0.05858	0.983000	0.44433	0.825000	0.46686	0.446000	0.21694	-0.024000	0.13941	0.655000	0.94253	CGG		0.577	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2		
ADD1	118	broad.mit.edu	37	4	2930135	2930135	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:2930135G>A	ENST00000398129.1	+	14	2119	c.2099G>A	c.(2098-2100)gGg>gAg	p.G700E	ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.G700E|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000264758.7_Missense_Mutation_p.G731E			P35611	ADDA_HUMAN	adducin 1 (alpha)	700					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCGAGGAGGGGGCCGCCGCG	0.662																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	uc003gfq.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(2191-2193)gGg>gAg		Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.							39.0	52.0	48.0					4																	2930135		2197	4296	6493	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2930135G>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.2099G>A	4.37:g.2930135G>A	ENSP00000381197:p.Gly700Glu					ADD1_uc003gfo.3_3'UTR|ADD1_uc003gfp.3_3'UTR|ADD1_uc003gfr.3_Missense_Mutation_p.G700E|ADD1_uc003gfs.3_3'UTR	p.G731E	NM_014189	NP_054908	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	14	2380	+			700			Interaction with calmodulin (Potential).		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.2192G>A	CCDS43205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.84|11.84	1.759931|1.759931	0.31137|0.31137	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398129|ENST00000514940	T;T;T|T	0.05139|0.13538	3.49;3.55;3.55|2.58	5.08|5.08	4.21|4.21	0.49690|0.49690	.|.	0.108919|0.108919	0.40064|0.40064	N|N	0.001181|0.001181	T|T	0.16938|0.16938	0.0407|0.0407	L|L	0.34521|0.34521	1.04|1.04	0.40250|0.40250	D|D	0.978069|0.978069	B;B|.	0.14805|.	0.007;0.011|.	B;B|.	0.13407|.	0.004;0.009|.	T|T	0.02505|0.02505	-1.1149|-1.1149	10|8	0.14656|0.72032	T|D	0.56|0.01	-23.5481|-23.5481	10.303|10.303	0.43663|0.43663	0.0:0.1473:0.6998:0.1529|0.0:0.1473:0.6998:0.1529	.|.	700;731|.	P35611;P35611-3|.	ADDA_HUMAN;.|.	E|R	731;700;700|437	ENSP00000264758:G731E;ENSP00000399828:G700E;ENSP00000381197:G700E|ENSP00000424143:G437R	ENSP00000264758:G731E|ENSP00000424143:G437R	G|G	+|+	2|1	0|0	ADD1|ADD1	2899933|2899933	1.000000|1.000000	0.71417|0.71417	0.860000|0.860000	0.33809|0.33809	0.272000|0.272000	0.26649|0.26649	2.269000|2.269000	0.43346|0.43346	1.063000|1.063000	0.40649|0.40649	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.662	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189	
RXFP1	59350	broad.mit.edu	37	4	159538309	159538309	+	Missense_Mutation	SNP	G	G	A	rs368431235		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:159538309G>A	ENST00000307765.5	+	9	958	c.707G>A	c.(706-708)cGt>cAt	p.R236H	RXFP1_ENST00000343542.5_Missense_Mutation_p.R236H|RXFP1_ENST00000448688.2_Missense_Mutation_p.R155H|RXFP1_ENST00000460056.2_Missense_Mutation_p.R155H|RXFP1_ENST00000470033.1_Missense_Mutation_p.R203H	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	236					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GTCCTCACCCGTTTACCTGAT	0.363																																						uc003ipz.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(706-708)cGt>cAt		Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.		G	HIS/ARG	1,3691		0,1,1845	162.0	155.0	157.0		707	-7.6	0.0	4		157	0,8210		0,0,4105	no	missense	RXFP1	NM_021634.2	29	0,1,5950	AA,AG,GG		0.0,0.0271,0.0084	benign	236/758	159538309	1,11901	1846	4105	5951	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159538309G>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.707G>A	4.37:g.159538309G>A	ENSP00000303248:p.Arg236His					RXFP1_uc010iqj.2_Missense_Mutation_p.R65H|RXFP1_uc010iqk.3_Missense_Mutation_p.R104H|RXFP1_uc011cja.2_Missense_Mutation_p.R155H|RXFP1_uc010iqo.3_Missense_Mutation_p.R236H|RXFP1_uc011cjb.2_Missense_Mutation_p.R182H|RXFP1_uc011cjc.2_Missense_Mutation_p.R155H|RXFP1_uc011cjd.2_Missense_Mutation_p.R155H|RXFP1_uc010iql.3_Missense_Mutation_p.R104H|RXFP1_uc011cje.2_Missense_Mutation_p.R263H|RXFP1_uc010iqm.3_Missense_Mutation_p.R203H|RXFP1_uc011cjf.2_Missense_Mutation_p.R106H|RXFP1_uc010iqn.3_Missense_Mutation_p.R182H	p.R236H	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	8	970	+	all_hematologic(180;0.24)	Renal(120;0.0854)	236					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.707G>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	1.806	-0.475979	0.04414	2.71E-4	0.0	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;D;T	0.83755	3.62;3.62;4.28;-1.76;3.62	5.53	-7.55	0.01327	.	0.672502	0.16592	N	0.207737	T	0.65260	0.2674	N	0.11364	0.135	0.09310	N	0.99999	B;B;B;B;B;B;B;B;B	0.09022	0.001;0.002;0.0;0.0;0.001;0.0;0.002;0.001;0.0	B;B;B;B;B;B;B;B;B	0.10450	0.001;0.001;0.003;0.002;0.002;0.001;0.005;0.001;0.001	T	0.12863	-1.0531	10	0.35671	T	0.21	.	18.4961	0.90865	0.6913:0.0:0.3087:0.0	.	247;263;155;236;203;155;106;173;236	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;.;.;RXFP1_HUMAN	H	155;236;155;236;203;106	ENSP00000423306:R155H;ENSP00000303248:R236H;ENSP00000414885:R155H;ENSP00000345889:R236H;ENSP00000420712:R203H	ENSP00000303248:R236H	R	+	2	0	RXFP1	159757759	0.000000	0.05858	0.001000	0.08648	0.237000	0.25408	-1.237000	0.02922	-1.957000	0.01021	-0.897000	0.02905	CGT		0.363	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634	
TENM3	55714	broad.mit.edu	37	4	183713542	183713542	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:183713542G>A	ENST00000511685.1	+	26	5840	c.5717G>A	c.(5716-5718)cGa>cAa	p.R1906Q	TENM3_ENST00000406950.2_Missense_Mutation_p.R1906Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1906					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAGACCATCCGATCCATTGGC	0.542																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(5716-5718)cGa>cAa		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							65.0	70.0	68.0					4																	183713542		2022	4184	6206	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183713542G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5717G>A	4.37:g.183713542G>A	ENSP00000424226:p.Arg1906Gln						p.R1906Q	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	24	5792	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1906					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5717G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587914	0.66105	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86164	-2.08;-2.08	5.18	5.18	0.71444	.	.	.	.	.	D	0.91855	0.7422	M	0.63428	1.95	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.89608	0.3839	9	0.28530	T	0.3	.	18.8905	0.92399	0.0:0.0:1.0:0.0	.	1906	Q9P273	TEN3_HUMAN	Q	1906	ENSP00000424226:R1906Q;ENSP00000385276:R1906Q	ENSP00000385276:R1906Q	R	+	2	0	ODZ3	183950536	1.000000	0.71417	0.975000	0.42487	0.977000	0.68977	9.623000	0.98386	2.688000	0.91661	0.591000	0.81541	CGA		0.542	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
SLC6A19	340024	broad.mit.edu	37	5	1216784	1216784	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:1216784C>T	ENST00000304460.10	+	7	1055	c.999C>T	c.(997-999)taC>taT	p.Y333Y		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	333					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACAGCGCTACGACGACTGCT	0.617																																						uc003jbw.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(997-999)taC>taT		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.							204.0	149.0	167.0					5																	1216784		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1216784C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.999C>T	5.37:g.1216784C>T							p.Y333Y	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	1055	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		333					A8K446	Silent	SNP	ENST00000304460.10	37	c.999C>T	CCDS34130.1																																																																																				0.617	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120	
UGT3A1	133688	broad.mit.edu	37	5	35955903	35955903	+	Missense_Mutation	SNP	C	C	T	rs375679556		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:35955903C>T	ENST00000274278.3	-	6	1496	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	UGT3A1_ENST00000503189.1_Missense_Mutation_p.R380H|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.R346H	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	380						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACACCATGACGGATGGCCTC	0.493																																						uc003jjv.2																			0		p.R380C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(1138-1140)cGt>cAt		Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.		C	HIS/ARG	0,4406		0,0,2203	155.0	140.0	145.0		1139	3.0	0.0	5		145	1,8599		0,1,4299	no	missense	UGT3A1	NM_152404.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	380/524	35955903	1,13005	2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35955903C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1139G>A	5.37:g.35955903C>T	ENSP00000274278:p.Arg380His					UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R380H|UGT3A1_uc011cor.2_Missense_Mutation_p.R346H	p.R380H	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1332	-	all_lung(31;0.000197)		380					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.1139G>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	8.934	0.964086	0.18583	0.0	1.16E-4	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.61859	0.07;0.07;0.07	4.12	2.95	0.34219	.	0.415474	0.21401	N	0.075157	T	0.24624	0.0597	N	0.01091	-1.02	0.58432	D	0.999997	B;B;B	0.13145	0.007;0.002;0.001	B;B;B	0.09377	0.004;0.0;0.0	T	0.03095	-1.1073	10	0.33141	T	0.24	.	8.1933	0.31381	0.0:0.1043:0.0:0.8957	.	346;380;380	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	H	380;380;346	ENSP00000274278:R380H;ENSP00000427079:R380H;ENSP00000426100:R346H	ENSP00000274278:R380H	R	-	2	0	UGT3A1	35991660	1.000000	0.71417	0.002000	0.10522	0.048000	0.14542	2.421000	0.44688	0.553000	0.29044	-0.373000	0.07131	CGT		0.493	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404	
HCN1	348980	broad.mit.edu	37	5	45262136	45262136	+	Nonsense_Mutation	SNP	G	G	A	rs534013981		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:45262136G>A	ENST00000303230.4	-	8	2617	c.2560C>T	c.(2560-2562)Cga>Tga	p.R854*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	854					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGACTCCTCGGTTCGGGGGG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13483	0.0		0.0	False		,,,				2504	0.0					uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2560-2562)Cga>Tga		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							54.0	64.0	60.0					5																	45262136		2203	4300	6503	SO:0001587	stop_gained	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262136G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2560C>T	5.37:g.45262136G>A	ENSP00000307342:p.Arg854*						p.R854*	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2585	-			854						Nonsense_Mutation	SNP	ENST00000303230.4	37	c.2560C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	g	37	6.510808	0.97624	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.01	5.01	0.66863	.	0.000000	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6446	0.62275	0.0:0.0:0.8453:0.1547	.	.	.	.	X	854	.	ENSP00000307342:R854X	R	-	1	2	HCN1	45297893	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.706000	0.68362	2.487000	0.83934	0.651000	0.88453	CGA		0.632	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
HCN1	348980	broad.mit.edu	37	5	45353296	45353296	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:45353296C>T	ENST00000303230.4	-	5	1340	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	428					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R428H(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TATCTTCTGACGCATATCAGC	0.338																																						uc003jok.3																			1	Substitution - Missense(1)	p.R428H(2)	prostate(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1282-1284)cGt>cAt		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							163.0	150.0	154.0					5																	45353296		2203	4299	6502	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45353296C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1283G>A	5.37:g.45353296C>T	ENSP00000307342:p.Arg428His						p.R428H	NM_021072	NP_066550	O60741	HCN1_HUMAN			4	1308	-			428						Missense_Mutation	SNP	ENST00000303230.4	37	c.1283G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374180	0.95923	.	.	ENSG00000164588	ENST00000303230	D	0.96967	-4.19	5.97	5.97	0.96955	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000002	D	0.98182	0.9399	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	P	0.60173	0.87	D	0.98485	1.0607	10	0.87932	D	0	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	428	O60741	HCN1_HUMAN	H	428	ENSP00000307342:R428H	ENSP00000307342:R428H	R	-	2	0	HCN1	45389053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.828000	0.97474	0.655000	0.94253	CGT		0.338	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
PTCD2	79810	broad.mit.edu	37	5	71634538	71634538	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:71634538C>T	ENST00000380639.5	+	7	745	c.729C>T	c.(727-729)ttC>ttT	p.F243F	PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000536805.1_Silent_p.F71F|PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000503868.1_Silent_p.F134F	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	243					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CATCCTGTTTCGCTGTGGCAT	0.423																																						uc003kcb.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11						c.(727-729)ttC>ttT		Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.							74.0	69.0	71.0					5																	71634538		2203	4300	6503	SO:0001819	synonymous_variant	79810							g.chr5:71634538C>T	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.729C>T	5.37:g.71634538C>T						PTCD2_uc011csf.1_Silent_p.F53F|PTCD2_uc003kcc.3_Silent_p.F91F|PTCD2_uc011csg.2_Silent_p.F71F|PTCD2_uc011csh.2_Silent_p.F134F|PTCD2_uc003kcd.3_Non-coding_Transcript	p.F243F	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	6	739	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	243					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Silent	SNP	ENST00000380639.5	37	c.729C>T	CCDS4014.2																																																																																				0.423	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754	
FCHO2	115548	broad.mit.edu	37	5	72370577	72370577	+	Missense_Mutation	SNP	C	C	T	rs368140227	byFrequency	TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:72370577C>T	ENST00000430046.2	+	20	1704	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	FCHO2_ENST00000341845.6_Missense_Mutation_p.R530W|FCHO2_ENST00000512348.1_Missense_Mutation_p.R497W	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	530	Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.R530W(3)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AGGTGTGTCACGGGGTCCCAG	0.403													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18479	0.0		0.0	False		,,,				2504	0.0					uc003kcl.3																			3	Substitution - Missense(3)	p.R530W(4)|p.R530R(1)	endometrium(2)|large_intestine(1)	cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.(1588-1590)Cgg>Tgg		Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG	1,3747		0,1,1873	81.0	78.0	79.0		1489,1588	4.8	1.0	5		79	0,8208		0,0,4104	no	missense,missense	FCHO2	NM_001146032.1,NM_138782.2	101,101	0,1,5977	TT,TC,CC		0.0,0.0267,0.0084	probably-damaging,probably-damaging	497/778,530/811	72370577	1,11955	1874	4104	5978	SO:0001583	missense	115548							g.chr5:72370577C>T	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1588C>T	5.37:g.72370577C>T	ENSP00000393776:p.Arg530Trp					FCHO2_uc011csl.2_Missense_Mutation_p.R497W|FCHO2_uc010izb.3_5'UTR|FCHO2_uc011csn.2_5'UTR	p.R530W	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	19	1704	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	530					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	c.1588C>T	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273686	0.80580	2.67E-4	0.0	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.44083	0.93;0.94;3.36	5.73	4.85	0.62838	.	0.123853	0.56097	D	0.000028	T	0.66317	0.2777	M	0.77313	2.365	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.982	T	0.72030	-0.4413	10	0.87932	D	0	-8.8324	16.0653	0.80867	0.1352:0.8648:0.0:0.0	.	497;530	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	W	530;530;497	ENSP00000393776:R530W;ENSP00000344034:R530W;ENSP00000427296:R497W	ENSP00000344034:R530W	R	+	1	2	FCHO2	72406333	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.729000	0.54999	1.401000	0.46761	0.555000	0.69702	CGG		0.403	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142	
ARRDC3	57561	broad.mit.edu	37	5	90672545	90672545	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:90672545G>A	ENST00000265138.3	-	3	669	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	ARRDC3_ENST00000503192.1_5'UTR	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	135					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		ACCCAATAGCGCACACTGCCA	0.398																																						uc003kjz.2																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18						c.(403-405)Cgc>Tgc		Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.							76.0	77.0	77.0					5																	90672545		2203	4300	6503	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90672545G>A	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.403C>T	5.37:g.90672545G>A	ENSP00000265138:p.Arg135Cys						p.R135C	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	2	643	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	135					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.403C>T	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393707	0.96009	.	.	ENSG00000113369	ENST00000265138	T	0.17854	2.25	5.62	5.62	0.85841	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68629	-0.5358	10	0.87932	D	0	-20.769	20.024	0.97514	0.0:0.0:1.0:0.0	.	135	Q96B67	ARRD3_HUMAN	C	135	ENSP00000265138:R135C	ENSP00000265138:R135C	R	-	1	0	ARRDC3	90708301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.745000	0.74860	2.809000	0.96659	0.655000	0.94253	CGC		0.398	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801	
SLIT3	6586	broad.mit.edu	37	5	168112721	168112721	+	Missense_Mutation	SNP	C	C	T	rs143177032		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:168112721C>T	ENST00000519560.1	-	31	3945	c.3526G>A	c.(3526-3528)Gtc>Atc	p.V1176I	SLIT3_ENST00000332966.8_Missense_Mutation_p.V1183I|SLIT3_ENST00000404867.3_Missense_Mutation_p.V1176I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1176	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGGTCGGACCTTGGCGGAG	0.607																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3547-3549)Gtc>Atc		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							75.0	80.0	78.0					5																	168112721		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168112721C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3526G>A	5.37:g.168112721C>T	ENSP00000430333:p.Val1176Ile					SLIT3_uc003mab.3_Missense_Mutation_p.V1176I	p.V1183I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		30	3967	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1176			Laminin G-like.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.3547G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904515	0.52333	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.69306	-0.39;-0.39;-0.39	4.76	3.62	0.41486	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.217412	0.47093	D	0.000257	T	0.41026	0.1141	N	0.12746	0.255	0.36395	D	0.862755	B	0.02656	0.0	B	0.06405	0.002	T	0.39375	-0.9617	10	0.17369	T	0.5	.	6.2308	0.20734	0.0:0.7646:0.0:0.2354	.	1176	O75094	SLIT3_HUMAN	I	1176;1183;1176	ENSP00000430333:V1176I;ENSP00000332164:V1183I;ENSP00000384890:V1176I	ENSP00000332164:V1183I	V	-	1	0	SLIT3	168045299	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.278000	0.43426	2.349000	0.79799	0.561000	0.74099	GTC		0.607	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
OR12D2	26529	broad.mit.edu	37	6	29364964	29364964	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:29364964G>A	ENST00000383555.2	+	1	549	c.488G>A	c.(487-489)cGc>cAc	p.R163H	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ATGACTTCTCGCTTGAACTTC	0.468																																						uc003nmf.4																			0		p.S162F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(487-489)cGc>cAc		Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.							168.0	164.0	165.0					6																	29364964		1511	2709	4220	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364964G>A		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.488G>A	6.37:g.29364964G>A	ENSP00000373047:p.Arg163His						p.R163H	NM_013936	NP_039224	P58182	O12D2_HUMAN			0	549	+			163					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.488G>A	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	G	3.358	-0.130999	0.06753	.	.	ENSG00000168787	ENST00000383555	T	0.00169	8.63	3.94	-4.6	0.03390	GPCR, rhodopsin-like superfamily (1);	0.709656	0.13318	N	0.396909	T	0.00039	0.0001	L	0.38531	1.155	0.09310	N	1	B	0.15930	0.015	B	0.15484	0.013	T	0.22730	-1.0208	10	0.46703	T	0.11	.	9.4267	0.38583	0.7184:0.1341:0.1474:0.0	.	163	P58182	O12D2_HUMAN	H	163	ENSP00000373047:R163H	ENSP00000373047:R163H	R	+	2	0	OR12D2	29472943	0.000000	0.05858	0.000000	0.03702	0.335000	0.28730	-4.572000	0.00214	-1.108000	0.03000	0.205000	0.17691	CGC		0.468	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2		
HLA-G	3135	broad.mit.edu	37	6	29797340	29797340	+	Silent	SNP	G	G	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:29797340G>C	ENST00000360323.6	+	4	789	c.765G>C	c.(763-765)gtG>gtC	p.V255V	HLA-G_ENST00000428701.1_Silent_p.V255V|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Silent_p.V163V|HLA-G_ENST00000376828.2_Silent_p.V260V			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	255	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGGAGCTCGTGGAGACCAGGC	0.632																																						uc003nnw.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.(763-765)gtG>gtC		Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.							74.0	67.0	69.0					6																	29797340		2203	4299	6502	SO:0001819	synonymous_variant	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797340G>C		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.765G>C	6.37:g.29797340G>C						HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Silent_p.V227V|HLA-G_uc003raj.3_Silent_p.V260V|HLA-G_uc003nnz.3_Silent_p.V163V|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	p.V255V	NM_002127	NP_002118	P17693	HLAG_HUMAN			4	943	+			255			Alpha-3.|Ig-like C1-type.			Silent	SNP	ENST00000360323.6	37	c.765G>C	CCDS4668.1																																																																																				0.632	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127	
SKIV2L	6499	broad.mit.edu	37	6	31936703	31936703	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:31936703G>A	ENST00000375394.2	+	26	3349	c.3236G>A	c.(3235-3237)cGg>cAg	p.R1079Q	DXO_ENST00000478221.1_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.R886Q|STK19_ENST00000375331.2_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1079					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGGCAGGGCGGGTGGCTTGT	0.592																																						uc003nyn.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(3235-3237)cGg>cAg		Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.							89.0	92.0	91.0					6																	31936703		1508	2708	4216	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31936703G>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3236G>A	6.37:g.31936703G>A	ENSP00000364543:p.Arg1079Gln					SKIV2L_uc011dou.1_Missense_Mutation_p.R921Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R886Q|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank	p.R1079Q	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			25	3625	+			1079					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.3236G>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219535	0.95139	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.28069	1.63;1.63	4.58	4.58	0.56647	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.63625	-0.6595	10	0.87932	D	0	-28.2661	16.6655	0.85252	0.0:0.0:1.0:0.0	.	1079	Q15477	SKIV2_HUMAN	Q	1079;921;886	ENSP00000364543:R1079Q;ENSP00000442645:R886Q	ENSP00000364543:R1079Q	R	+	2	0	SKIV2L	32044682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.622000	0.74233	2.537000	0.85549	0.563000	0.77884	CGG		0.592	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3		
SRSF3	6428	broad.mit.edu	37	6	36564707	36564707	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:36564707C>T	ENST00000373715.6	+	2	284	c.168C>T	c.(166-168)ccC>ccT	p.P56P	SRSF3_ENST00000339436.7_Silent_p.P56P	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	56	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficiernt for interaction with NXF1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						TTGAAGATCCCCGAGATGCAG	0.433																																						uc003omj.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(166-168)ccC>ccT		Homo sapiens serine/arginine-rich splicing factor 3 (SRSF3), transcript variant 1, mRNA.							64.0	67.0	66.0					6																	36564707		2203	4300	6503	SO:0001819	synonymous_variant	6428				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr6:36564707C>T	L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10785	protein-coding gene	gene with protein product		603364	"""splicing factor, arginine/serine-rich 3"""	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.168C>T	6.37:g.36564707C>T						SRSF3_uc003omk.3_Non-coding_Transcript|SRSF3_uc011dtp.1_Silent_p.P56P	p.P56P	NM_003017	NP_003008	P84103	SRSF3_HUMAN			1	339	+			56			RRM.		B4E241|O08831|P23152|Q5R3K0	Silent	SNP	ENST00000373715.6	37	c.168C>T	CCDS4823.1																																																																																				0.433	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040347.2	NM_003017	
HMGCLL1	54511	broad.mit.edu	37	6	55360237	55360237	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:55360237T>C	ENST00000398661.2	-	8	996	c.865A>G	c.(865-867)Aat>Gat	p.N289D	HMGCLL1_ENST00000370850.2_Missense_Mutation_p.N156D|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.N227D|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.N259D|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	289					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTAAGGATATTTGCTAAGGCT	0.398																																					Ovarian(35;840 893 7837 15538 42887)	uc003pcn.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(865-867)Aat>Gat		Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.							121.0	109.0	113.0					6																	55360237		1892	4113	6005	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55360237T>C	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.865A>G	6.37:g.55360237T>C	ENSP00000381654:p.Asn289Asp					HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.N259D|HMGCLL1_uc010jzx.3_Missense_Mutation_p.N160D|HMGCLL1_uc011dxc.2_Missense_Mutation_p.N227D|HMGCLL1_uc011dxd.2_Missense_Mutation_p.N156D	p.N289D	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		7	1024	-	Lung NSC(77;0.0875)		289					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.865A>G	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.719610	0.89205	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000308161	D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52	5.5	5.5	0.81552	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	H	0.99042	4.41	0.80722	D	1	D;P;P;D	0.71674	0.998;0.937;0.933;0.994	D;P;D;D	0.83275	0.996;0.877;0.965;0.994	D	0.97346	0.9960	10	0.87932	D	0	-22.7576	15.6081	0.76689	0.0:0.0:0.0:1.0	.	156;227;259;289	B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;HMGC2_HUMAN	D	259;289;156;227	ENSP00000274901:N259D;ENSP00000381654:N289D;ENSP00000359887:N156D;ENSP00000309737:N227D	ENSP00000274901:N259D	N	-	1	0	HMGCLL1	55468196	1.000000	0.71417	0.862000	0.33874	0.943000	0.58893	8.020000	0.88740	2.084000	0.62774	0.533000	0.62120	AAT		0.398	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383	
TIAM2	26230	broad.mit.edu	37	6	155504465	155504465	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:155504465C>G	ENST00000461783.3	+	16	4168	c.2895C>G	c.(2893-2895)agC>agG	p.S965R	TIAM2_ENST00000318981.5_Missense_Mutation_p.S965R|TIAM2_ENST00000360366.4_Missense_Mutation_p.S989R|TIAM2_ENST00000529824.2_Missense_Mutation_p.S965R|TIAM2_ENST00000367174.2_Missense_Mutation_p.S341R|TIAM2_ENST00000456144.1_Missense_Mutation_p.S965R|TIAM2_ENST00000528391.2_Missense_Mutation_p.S301R|TIAM2_ENST00000456877.2_Missense_Mutation_p.S277R			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	965	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGAGAAGAGCGTCGGACTCA	0.527																																						uc003qqb.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(2893-2895)agC>agG		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							87.0	87.0	87.0					6																	155504465		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155504465C>G		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2895C>G	6.37:g.155504465C>G	ENSP00000437188:p.Ser965Arg					TIAM2_uc003qqe.3_Missense_Mutation_p.S965R|TIAM2_uc010kjj.3_Missense_Mutation_p.S498R|TIAM2_uc003qqf.3_Missense_Mutation_p.S341R|TIAM2_uc011efl.1_Missense_Mutation_p.S301R|TIAM2_uc003qqg.3_Missense_Mutation_p.S277R	p.S965R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	15	4168	+		Ovarian(120;0.196)	965			PDZ.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2895C>G	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617586	0.66787	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.67	1.29	0.21616	PDZ/DHR/GLGF (3);	0.212124	0.49916	D	0.000134	T	0.43809	0.1264	L	0.59436	1.845	0.35926	D	0.832178	D;D;D;D	0.76494	0.999;0.992;0.996;0.993	D;P;D;D	0.72338	0.977;0.88;0.911;0.927	T	0.49234	-0.8961	10	0.87932	D	0	.	9.793	0.40717	0.0:0.5417:0.0:0.4583	.	301;965;989;965	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	R	965;1211;965;965;965;341;989;965;277;301	ENSP00000437188:S965R;ENSP00000434901:S965R;ENSP00000407746:S965R;ENSP00000327315:S965R;ENSP00000356142:S341R;ENSP00000353528:S989R;ENSP00000433348:S965R;ENSP00000407183:S277R;ENSP00000435335:S301R	ENSP00000327315:S965R	S	+	3	2	TIAM2	155546157	0.078000	0.21339	0.994000	0.49952	0.997000	0.91878	-1.221000	0.02968	0.317000	0.23160	0.655000	0.94253	AGC		0.527	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
AGMO	392636	broad.mit.edu	37	7	15425167	15425167	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:15425167G>A	ENST00000342526.3	-	10	1147	c.978C>T	c.(976-978)ccC>ccT	p.P326P		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	326					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATGATGAGAAGGGAACTTCTT	0.368																																						uc003stb.1																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(976-978)ccC>ccT		Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.							98.0	96.0	97.0					7																	15425167		2203	4300	6503	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15425167G>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.978C>T	7.37:g.15425167G>A							p.P326P	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			9	1148	-			326					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.978C>T	CCDS34604.1																																																																																				0.368	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320	
PIK3CG	5294	broad.mit.edu	37	7	106508579	106508579	+	Silent	SNP	C	C	T	rs145944814		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:106508579C>T	ENST00000359195.3	+	2	883	c.573C>T	c.(571-573)cgC>cgT	p.R191R	PIK3CG_ENST00000440650.2_Silent_p.R191R|PIK3CG_ENST00000496166.1_Silent_p.R191R	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	191					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGGCCAGCCGCGACCCCAAGC	0.612																																						uc003vdv.4																			0		p.R191S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(571-573)cgC>cgT		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							62.0	67.0	65.0					7																	106508579		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508579C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.573C>T	7.37:g.106508579C>T						PIK3CG_uc003vdu.3_Silent_p.R191R|PIK3CG_uc003vdw.3_Silent_p.R191R	p.R191R	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	658	+			191					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.573C>T	CCDS5739.1																																																																																				0.612	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
CTTNBP2	83992	broad.mit.edu	37	7	117368153	117368153	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:117368153C>A	ENST00000160373.3	-	17	4136	c.4045G>T	c.(4045-4047)Gtg>Ttg	p.V1349L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1349					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCACTGTCACTTGGGCATGC	0.493																																						uc003vjf.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(4045-4047)Gtg>Ttg		Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.							78.0	83.0	81.0					7																	117368153		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117368153C>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4045G>T	7.37:g.117368153C>A	ENSP00000160373:p.Val1349Leu						p.V1349L	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	16	4137	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1349					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.4045G>T	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.66|15.66	2.899008|2.899008	0.52227|0.52227	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|D	.|0.88509	.|-2.39	5.43|5.43	4.53|4.53	0.55603|0.55603	.|.	.|0.520427	.|0.22968	.|N	.|0.053477	D|D	0.85371|0.85371	0.5681|0.5681	L|L	0.55481|0.55481	1.735|1.735	0.21697|0.21697	N|N	0.999581|0.999581	.|B	.|0.17852	.|0.024	.|B	.|0.12837	.|0.008	T|T	0.77705|0.77705	-0.2488|-0.2488	5|10	.|0.62326	.|D	.|0.03	-0.4957|-0.4957	9.8781|9.8781	0.41216|0.41216	0.0:0.7866:0.1405:0.073|0.0:0.7866:0.1405:0.073	.|.	.|1349	.|Q8WZ74	.|CTTB2_HUMAN	I|L	836|1349	.|ENSP00000160373:V1349L	.|ENSP00000160373:V1349L	S|V	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117155389|117155389	0.003000|0.003000	0.15002|0.15002	0.995000|0.995000	0.50966|0.50966	0.968000|0.968000	0.65278|0.65278	1.166000|1.166000	0.31834|0.31834	1.383000|1.383000	0.46405|0.46405	0.650000|0.650000	0.86243|0.86243	AGT|GTG		0.493	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
RNF133	168433	broad.mit.edu	37	7	122338662	122338662	+	Missense_Mutation	SNP	A	A	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:122338662A>C	ENST00000340112.2	-	1	548	c.311T>G	c.(310-312)cTt>cGt	p.L104R	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	104	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCGTTCAATAAGTGCAAGCCA	0.458																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(310-312)cTt>cGt		Homo sapiens ring finger protein 133 (RNF133), mRNA.							155.0	164.0	161.0					7																	122338662		2203	4299	6502	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338662A>C	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.311T>G	7.37:g.122338662A>C	ENSP00000344489:p.Leu104Arg					CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	p.L104R	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			0	547	-			104			PA.		A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.311T>G	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.963346	0.74016	.	.	ENSG00000188050	ENST00000340112	T	0.14640	2.49	5.66	5.66	0.87406	Protease-associated domain, PA (1);	0.000000	0.64402	D	0.000016	T	0.51618	0.1685	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67875	-0.5557	10	0.87932	D	0	.	14.8721	0.70465	1.0:0.0:0.0:0.0	.	104	Q8WVZ7	RN133_HUMAN	R	104	ENSP00000344489:L104R	ENSP00000344489:L104R	L	-	2	0	RNF133	122125898	1.000000	0.71417	0.883000	0.34634	0.981000	0.71138	7.660000	0.83776	2.153000	0.67306	0.459000	0.35465	CTT		0.458	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175	
GCC1	79571	broad.mit.edu	37	7	127222596	127222596	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:127222596G>A	ENST00000321407.2	-	2	2224	c.1800C>T	c.(1798-1800)gaC>gaT	p.D600D	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	600					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCAGTTCCAAGTCCTTCTCGG	0.627																																						uc003vma.3																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1798-1800)gaC>gaT		Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.							62.0	59.0	60.0					7																	127222596		2203	4300	6503	SO:0001819	synonymous_variant	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222596G>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1800C>T	7.37:g.127222596G>A							p.D600D	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			1	2218	-			600					Q9H6N7	Silent	SNP	ENST00000321407.2	37	c.1800C>T	CCDS5796.1																																																																																				0.627	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523	
KEL	3792	broad.mit.edu	37	7	142643377	142643377	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:142643377C>T	ENST00000355265.2	-	11	1705	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	411					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTCTCCTCCACGCACTTCATC	0.567																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1231-1233)Gtg>Atg		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							87.0	74.0	78.0					7																	142643377		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142643377C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1231G>A	7.37:g.142643377C>T	ENSP00000347409:p.Val411Met						p.V411M	NM_000420	NP_000411	P23276	KELL_HUMAN			10	1441	-	Melanoma(164;0.059)		411					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1231G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	c	9.334	1.061309	0.19987	.	.	ENSG00000197993	ENST00000355265	T	0.78003	-1.14	4.48	1.54	0.23209	Peptidase M13 (1);	0.762469	0.11301	N	0.578219	T	0.62085	0.2399	L	0.41824	1.3	0.27440	N	0.953734	P	0.44006	0.824	B	0.34536	0.185	T	0.57843	-0.7741	10	0.72032	D	0.01	-1.8374	4.0324	0.09714	0.1854:0.611:0.0:0.2036	.	411	P23276	KELL_HUMAN	M	411	ENSP00000347409:V411M	ENSP00000347409:V411M	V	-	1	0	KEL	142353499	0.016000	0.18221	0.915000	0.36163	0.177000	0.22998	-0.211000	0.09332	0.475000	0.27415	-0.355000	0.07637	GTG		0.567	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
ADAM7	8756	broad.mit.edu	37	8	24324411	24324411	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:24324411G>A	ENST00000175238.6	+	6	572	c.489G>A	c.(487-489)ccG>ccA	p.P163P	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.P163P|ADAM7_ENST00000441335.2_Silent_p.P163P	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAGGGTGCCGTATGGTGCCA	0.388																																						uc003xeb.3																			0		p.V162A(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(487-489)ccG>ccA		Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.							110.0	114.0	113.0					8																	24324411		2203	4300	6503	SO:0001819	synonymous_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24324411G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.489G>A	8.37:g.24324411G>A						ADAM7_uc003xea.1_Silent_p.P163P	p.P163P	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	5	602	+		Prostate(55;0.0181)	163					A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	c.489G>A	CCDS6045.1																																																																																				0.388	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
SLCO5A1	81796	broad.mit.edu	37	8	70667740	70667740	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:70667740C>T	ENST00000260126.4	-	4	1883	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.D393N|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.D393N	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	393						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D393N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTCAGAACATCGTCATCACTA	0.363																																						uc003xyl.3																			1	Substitution - Missense(1)	p.D393N(2)	skin(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1177-1179)Gat>Aat		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							127.0	110.0	116.0					8																	70667740		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70667740C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1177G>A	8.37:g.70667740C>T	ENSP00000260126:p.Asp393Asn					SLCO5A1_uc010lzb.3_Missense_Mutation_p.D393N|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.D393N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.D393N	p.D393N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		3	1884	-	Breast(64;0.0654)		393					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1177G>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573530	0.65765	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.58797	1.14;1.14;0.31	5.38	5.38	0.77491	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.319266	0.16286	U	0.221138	T	0.64023	0.2561	N	0.25094	0.71	0.47245	D	0.999363	D;D;P;D	0.67145	0.996;0.98;0.94;0.984	P;B;B;P	0.62184	0.899;0.438;0.257;0.589	T	0.63871	-0.6539	10	0.45353	T	0.12	.	19.3169	0.94218	0.0:1.0:0.0:0.0	.	393;393;393;393	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	N	393	ENSP00000260126:D393N;ENSP00000434422:D393N;ENSP00000431611:D393N	ENSP00000260126:D393N	D	-	1	0	SLCO5A1	70830294	1.000000	0.71417	0.969000	0.41365	0.246000	0.25737	7.611000	0.82962	2.786000	0.95864	0.563000	0.77884	GAT		0.363	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
MTSS1	9788	broad.mit.edu	37	8	125568545	125568545	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:125568545G>A	ENST00000518547.1	-	12	1805	c.1332C>T	c.(1330-1332)acC>acT	p.T444T	MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000524090.1_Silent_p.T334T|MTSS1_ENST00000325064.5_Silent_p.T448T|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Silent_p.T419T|MTSS1_ENST00000395508.2_Silent_p.T218T|MTSS1_ENST00000354184.4_Silent_p.T162T|MTSS1_ENST00000431961.2_Silent_p.T162T	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	444					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCCGCTGGCGGTAGTGGGTC	0.627																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrl.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1342-1344)acC>acT		Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.							81.0	69.0	73.0					8																	125568545		2203	4300	6503	SO:0001819	synonymous_variant	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125568545G>A	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1332C>T	8.37:g.125568545G>A						NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Silent_p.T218T|MTSS1_uc011lio.1_Silent_p.T334T|MTSS1_uc003yri.2_Silent_p.T162T|MTSS1_uc003yrj.2_Silent_p.T419T|MTSS1_uc003yrk.2_Silent_p.T444T	p.T448T	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		12	1878	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		444					J3KNK6|Q8TCA2|Q96RX2	Silent	SNP	ENST00000518547.1	37	c.1344C>T	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	G	4.120	0.020460	0.08006	.	.	ENSG00000170873	ENST00000519168;ENST00000523179	.	.	.	4.09	-8.18	0.01053	.	.	.	.	.	T	0.15262	0.0368	.	.	.	0.23036	N	0.998397	.	.	.	.	.	.	T	0.09773	-1.0659	4	.	.	.	-0.1937	1.0521	0.01582	0.3964:0.1436:0.2342:0.2258	.	.	.	.	C	232;227	.	.	R	-	1	0	MTSS1	125637726	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.710000	0.01888	-3.418000	0.00167	-1.644000	0.00765	CGC		0.627	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751	
CEL	1056	broad.mit.edu	37	9	135946656	135946656	+	Silent	SNP	G	G	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr9:135946656G>C	ENST00000372080.4	+	11	1792	c.1776G>C	c.(1774-1776)ggG>ggC	p.G592G	CEL_ENST00000351304.7_Silent_p.G523G	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	589	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GTGACTCCGGGGCCCCCCCCG	0.811																																						uc010naa.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(1774-1776)ggG>ggC		Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.							2.0	3.0	3.0					9																	135946656		1234	3110	4344	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946656G>C	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1776G>C	9.37:g.135946656G>C							p.G592G	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	10	1792	+			589			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.1776G>C	CCDS43896.1																																																																																				0.811	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1		
RPL7A	6130	broad.mit.edu	37	9	136217156	136217156	+	Silent	SNP	C	C	T	rs142456845		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr9:136217156C>T	ENST00000323345.6	+	5	507	c.477C>T	c.(475-477)caC>caT	p.H159H	SNORD24_ENST00000383884.1_RNA|SNORD36B_ENST00000363961.1_RNA|MED22_ENST00000343730.5_5'Flank|MED22_ENST00000471524.1_5'Flank|MED22_ENST00000476080.1_5'Flank|MED22_ENST00000371999.1_5'Flank|SNORD36C_ENST00000516733.1_RNA|RPL7A_ENST00000315731.4_Silent_p.H44H|RPL7A_ENST00000463740.1_3'UTR|SNORD36A_ENST00000362874.1_RNA|MED22_ENST00000491289.1_5'Flank|MED22_ENST00000344469.5_5'Flank|SURF1_ENST00000495952.1_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	159					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGATTGCACACGACGTGGATC	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		20771	0.0		0.001	False		,,,				2504	0.0					uc004cde.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(475-477)caC>caT		Homo sapiens ribosomal protein L7a (RPL7A), mRNA.							75.0	63.0	67.0					9																	136217156		2203	4300	6503	SO:0001819	synonymous_variant	6130				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome	g.chr9:136217156C>T	BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.477C>T	9.37:g.136217156C>T						MED22_uc004cdc.3_5'Flank|MED22_uc004cdd.3_5'Flank|SNORD36A_uc010naj.3_5'Flank|RPL7A_uc022boy.1_5'Flank|SNORD36C_uc010nak.3_5'Flank	p.H159H	NM_000972	NP_000963	P62424	RL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)	4	507	+			159					P11518|Q5T8U4	Silent	SNP	ENST00000323345.6	37	c.477C>T	CCDS6965.1																																																																																				0.522	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972	
