#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
FUCA1	2517	broad.mit.edu	37	1	24186383	24186383	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:24186383C>G	ENST00000374479.3	-	4	680	c.673G>C	c.(673-675)Gat>Cat	p.D225H		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	225					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CAGATCAGATCAGGTTTATAG	0.403																																						uc001bie.2																			0				breast(1)	1						c.(673-675)GAT>CAT		fucosidase, alpha-L-1, tissue precursor							102.0	92.0	96.0					1																	24186383		2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24186383C>G	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.673G>C	1.37:g.24186383C>G	ENSP00000363603:p.Asp225His					FUCA1_uc009vqt.1_RNA|FUCA1_uc010oed.1_RNA	p.D225H	NM_000147	NP_000138	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	4	718	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	225					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.673G>C	CCDS244.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402679	0.83230	.	.	ENSG00000179163	ENST00000374479;ENST00000374475	T	0.62639	0.01	6.04	6.04	0.98038	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.084820	0.85682	D	0.000000	T	0.78253	0.4254	M	0.90198	3.095	0.80722	D	1	P	0.41910	0.764	P	0.47573	0.55	T	0.79408	-0.1816	10	0.48119	T	0.1	-9.288	20.5948	0.99439	0.0:1.0:0.0:0.0	.	225	P04066	FUCO_HUMAN	H	225;14	ENSP00000363603:D225H	ENSP00000363599:D14H	D	-	1	0	FUCA1	24058970	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.340000	0.79292	2.873000	0.98535	0.563000	0.77884	GAT		0.403	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147	
PODN	127435	broad.mit.edu	37	1	53544261	53544261	+	Missense_Mutation	SNP	G	G	A	rs138913141		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:53544261G>A	ENST00000312553.5	+	8	1230	c.1223G>A	c.(1222-1224)cGg>cAg	p.R408Q	PODN_ENST00000395871.2_Missense_Mutation_p.R266Q|PODN_ENST00000371500.3_Missense_Mutation_p.R389Q|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	360					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCCTCAAGCGGTTGCACACG	0.647																																						uc001cuv.2																			0				ovary(1)|pancreas(1)	2						c.(1222-1224)CGG>CAG		podocan		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	60.0	56.0	57.0		1166,1166,797,1223	-0.1	1.0	1	dbSNP_134	57	0,8600		0,0,4300	no	missense,missense,missense,missense	PODN	NM_001199080.1,NM_001199081.1,NM_001199082.1,NM_153703.4	43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	389/643,389/643,266/520,408/662	53544261	1,13005	2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53544261G>A	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1223G>A	1.37:g.53544261G>A	ENSP00000308315:p.Arg408Gln					PODN_uc001cuw.2_Missense_Mutation_p.R389Q|PODN_uc010onr.1_Missense_Mutation_p.R389Q|PODN_uc010ons.1_Missense_Mutation_p.R266Q	p.R408Q	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN			8	1230	+			360			LRR 12.		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.1223G>A	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716244	0.48622	2.27E-4	0.0	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.57595	0.39;0.39;0.39	4.81	-0.107	0.13592	.	0.456979	0.21202	N	0.078445	T	0.30324	0.0761	N	0.20845	0.615	0.26164	N	0.979966	P;P;P	0.52692	0.955;0.893;0.66	B;B;B	0.42593	0.392;0.3;0.149	T	0.39901	-0.9591	10	0.11485	T	0.65	.	8.7388	0.34545	0.7537:0.0:0.2463:0.0	.	266;389;408	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	Q	389;266;408	ENSP00000360555:R389Q;ENSP00000379212:R266Q;ENSP00000308315:R408Q	ENSP00000308315:R408Q	R	+	2	0	PODN	53316849	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	3.544000	0.53640	-0.050000	0.13356	0.555000	0.69702	CGG		0.647	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703	
INADL	10207	broad.mit.edu	37	1	62299351	62299351	+	Missense_Mutation	SNP	C	C	G	rs112258254	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:62299351C>G	ENST00000371158.2	+	17	2120	c.2006C>G	c.(2005-2007)aCt>aGt	p.T669S	INADL_ENST00000316485.6_Missense_Mutation_p.T669S	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	669					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGTCAATACTGAAGAAGAT	0.363																																						uc001dab.2																			0				ovary(3)|skin(1)	4						c.(2005-2007)ACT>AGT		InaD-like							126.0	120.0	122.0					1																	62299351		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62299351C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2006C>G	1.37:g.62299351C>G	ENSP00000360200:p.Thr669Ser					INADL_uc009waf.1_Missense_Mutation_p.T669S|INADL_uc001daa.2_Missense_Mutation_p.T669S|INADL_uc001dad.3_Missense_Mutation_p.T366S|INADL_uc001dac.2_RNA	p.T669S	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			17	2120	+			669					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.2006C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.037498	0.00402	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.13307	2.71;2.6	5.91	-2.21	0.06973	PDZ/DHR/GLGF (1);	1.111390	0.06722	N	0.775091	T	0.08802	0.0218	L	0.44542	1.39	0.09310	N	1	B;B;B	0.20887	0.037;0.049;0.026	B;B;B	0.22386	0.012;0.039;0.012	T	0.40421	-0.9564	10	0.02654	T	1	.	4.2604	0.10739	0.2359:0.4261:0.0:0.338	.	669;669;669	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	S	669	ENSP00000360200:T669S;ENSP00000326199:T669S	ENSP00000255202:T669S	T	+	2	0	INADL	62071939	0.029000	0.19370	0.000000	0.03702	0.102000	0.19082	0.735000	0.26115	-0.111000	0.12001	-0.269000	0.10298	ACT		0.363	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
TTC24	164118	broad.mit.edu	37	1	156554756	156554756	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:156554756G>A	ENST00000368237.3	+	6	1339	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	TTC24_ENST00000478081.1_3'UTR|AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000368236.3_Missense_Mutation_p.V447I			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	447										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAGCAGGTGTCCAGCACAG	0.642																																						uc009wsc.1																			0				pancreas(1)	1						c.(499-501)GTC>ATC		tetratricopeptide repeat domain 24							22.0	26.0	24.0					1																	156554756		2094	4226	6320	SO:0001583	missense	164118						binding	g.chr1:156554756G>A		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1339G>A	1.37:g.156554756G>A	ENSP00000357220:p.Val447Ile						p.V167I	NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN			5	639	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		447					Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	37	c.499G>A	CCDS53379.1	.	.	.	.	.	.	.	.	.	.	G	6.841	0.524319	0.13066	.	.	ENSG00000187862	ENST00000368236;ENST00000368237;ENST00000413282	T;T	0.27557	1.66;1.66	3.61	0.483	0.16820	.	0.864473	0.09630	N	0.776365	T	0.05318	0.0141	N	0.19112	0.55	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.40794	-0.9544	10	0.27785	T	0.31	-3.0E-4	3.3972	0.07310	0.2636:0.2166:0.5198:0.0	.	447	A2A3L6	TTC24_HUMAN	I	447;447;173	ENSP00000357219:V447I;ENSP00000357220:V447I	ENSP00000357219:V447I	V	+	1	0	TTC24	154821380	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.830000	0.27462	0.115000	0.18071	-0.258000	0.10820	GTC		0.642	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384	
ETV3L	440695	broad.mit.edu	37	1	157068529	157068529	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:157068529G>T	ENST00000454449.2	-	3	739	c.455C>A	c.(454-456)cCa>cAa	p.P152Q		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	152					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CACCAGCGCTGGCCGACACAG	0.652																																						uc001fqq.1																			0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(454-456)CCA>CAA		ets variant 3-like							37.0	41.0	40.0					1																	157068529		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068529G>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.455C>A	1.37:g.157068529G>T	ENSP00000430271:p.Pro152Gln						p.P152Q	NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN			3	740	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	152						Missense_Mutation	SNP	ENST00000454449.2	37	c.455C>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615615	0.46631	.	.	ENSG00000253831	ENST00000454449	T	0.10005	2.92	4.3	4.3	0.51218	.	.	.	.	.	T	0.07683	0.0193	L	0.29908	0.895	0.25363	N	0.988762	D	0.67145	0.996	P	0.53649	0.731	T	0.14559	-1.0468	9	0.56958	D	0.05	.	11.8402	0.52350	0.0:0.0:0.8242:0.1758	.	152	Q6ZN32	ETV3L_HUMAN	Q	152	ENSP00000430271:P152Q	ENSP00000430271:P152Q	P	-	2	0	ETV3L	155335153	0.999000	0.42202	0.918000	0.36340	0.115000	0.19883	3.719000	0.54926	2.369000	0.80426	0.655000	0.94253	CCA		0.652	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341	
PLEKHA6	22874	broad.mit.edu	37	1	204214763	204214763	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:204214763G>A	ENST00000272203.3	-	14	2328	c.2012C>T	c.(2011-2013)aCg>aTg	p.T671M	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.T691M	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	671										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGTGTCCGTGCCCCGGGA	0.602																																						uc001hau.2																			0				ovary(3)|pancreas(1)	4						c.(2011-2013)ACG>ATG		phosphoinositol 3-phosphate-binding protein-3							106.0	92.0	97.0					1																	204214763		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204214763G>A	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2012C>T	1.37:g.204214763G>A	ENSP00000272203:p.Thr671Met					PLEKHA6_uc009xau.1_5'Flank|PLEKHA6_uc009xav.1_5'Flank	p.T671M	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		14	2329	-	all_cancers(21;0.0222)|Breast(84;0.179)		671					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.2012C>T	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537521	0.85917	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.34472	1.36;1.36	5.13	5.13	0.70059	.	0.423937	0.24076	N	0.041778	T	0.47395	0.1443	M	0.64997	1.995	0.58432	D	0.999999	D	0.65815	0.995	P	0.49387	0.609	T	0.48175	-0.9058	10	0.46703	T	0.11	-4.5286	18.1806	0.89776	0.0:0.0:1.0:0.0	.	671	Q9Y2H5	PKHA6_HUMAN	M	671;691	ENSP00000272203:T671M;ENSP00000402046:T691M	ENSP00000272203:T671M	T	-	2	0	PLEKHA6	202481386	1.000000	0.71417	0.993000	0.49108	0.883000	0.51084	7.206000	0.77891	2.406000	0.81754	0.563000	0.77884	ACG		0.602	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935	
OR2T12	127064	broad.mit.edu	37	1	248458330	248458330	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:248458330C>T	ENST00000317996.1	-	1	550	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACAAGCCAAACGCACCAACAC	0.552																																						uc010pzj.1																			0				skin(2)|ovary(1)	3						c.(550-552)CGT>CAT		olfactory receptor, family 2, subfamily T,							174.0	131.0	145.0					1																	248458330		2201	4298	6499	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458330C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.551G>A	1.37:g.248458330C>T	ENSP00000324583:p.Arg184His						p.R184H	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	551	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		184			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.551G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	10.09	1.253645	0.22965	.	.	ENSG00000177201	ENST00000317996	T	0.00137	8.68	1.55	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.529203	0.14321	U	0.327030	T	0.00073	0.0002	N	0.16066	0.365	0.09310	N	1	B	0.32188	0.359	B	0.29524	0.103	T	0.17137	-1.0379	10	0.52906	T	0.07	.	3.7402	0.08527	0.0:0.3871:0.2015:0.4114	.	184	Q8NG77	O2T12_HUMAN	H	184	ENSP00000324583:R184H	ENSP00000324583:R184H	R	-	2	0	OR2T12	246524953	0.000000	0.05858	0.067000	0.19924	0.380000	0.30137	-3.284000	0.00527	-0.207000	0.10187	0.175000	0.17021	CGT		0.552	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692	
ARHGAP21	57584	broad.mit.edu	37	10	24873489	24873489	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:24873489A>C	ENST00000396432.2	-	26	6215	c.5729T>G	c.(5728-5730)cTt>cGt	p.L1910R		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1909					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TATGGAAAGAAGGGGCCTGTT	0.483																																						uc001isb.2																			0				ovary(7)|pancreas(1)	8						c.(5728-5730)CTT>CGT		Rho GTPase activating protein 21							104.0	99.0	100.0					10																	24873489		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24873489A>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5729T>G	10.37:g.24873489A>C	ENSP00000379709:p.Leu1910Arg					ARHGAP21_uc010qdb.1_RNA	p.L1910R	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			26	6216	-			1909					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.5729T>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	A	4.211	0.037866	0.08148	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.10668	2.85	4.95	-5.09	0.02920	.	1.262410	0.05117	N	0.490031	T	0.07818	0.0196	L	0.36672	1.1	0.19575	N	0.999961	P	0.38642	0.641	B	0.29267	0.1	T	0.35574	-0.9783	10	0.51188	T	0.08	.	11.0356	0.47799	0.147:0.2406:0.6124:0.0	.	1909	Q5T5U3	RHG21_HUMAN	R	1910;1359	ENSP00000379709:L1910R	ENSP00000379709:L1910R	L	-	2	0	ARHGAP21	24913495	0.975000	0.34042	0.004000	0.12327	0.130000	0.20726	1.345000	0.33953	-0.883000	0.03982	-0.290000	0.09829	CTT		0.483	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						uc001jif.2																			1	Substitution - Missense(1)		kidney(1)	ovary(2)	2						c.(1750-1752)GCA>ACA		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr					PARG_uc001jih.2_Missense_Mutation_p.A584T|PARG_uc001jig.2_Missense_Mutation_p.A170T|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Missense_Mutation_p.A475T|PARG_uc009xoj.2_Missense_Mutation_p.A135T|PARG_uc010qgx.1_Missense_Mutation_p.A502T	p.A584T	NM_003631	NP_003622	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	8	2011	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.1750G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631	
BTAF1	9044	broad.mit.edu	37	10	93786503	93786503	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:93786503G>A	ENST00000265990.6	+	36	5538	c.5230G>A	c.(5230-5232)Ggg>Agg	p.G1744R	BTAF1_ENST00000544642.1_Missense_Mutation_p.G572R	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1744	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCATCGCATTGGGCAGGTAAA	0.463																																						uc001khr.2																			0		p.G1744G(1)		ovary(1)|central_nervous_system(1)|skin(1)	3						c.(5230-5232)GGG>AGG		BTAF1 RNA polymerase II, B-TFIID transcription							60.0	55.0	57.0					10																	93786503		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93786503G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.5230G>A	10.37:g.93786503G>A	ENSP00000265990:p.Gly1744Arg						p.G1744R	NM_003972	NP_003963	O14981	BTAF1_HUMAN			36	5328	+		Colorectal(252;0.0846)	1744			Helicase C-terminal.		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.5230G>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	33	5.273212	0.95429	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	D;D	0.85773	-2.03;-2.03	5.65	5.65	0.86999	Helicase, C-terminal (3);	0.111600	0.64402	D	0.000008	D	0.96399	0.8825	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98074	1.0400	10	0.87932	D	0	-10.2335	19.7072	0.96079	0.0:0.0:1.0:0.0	.	1744	O14981	BTAF1_HUMAN	R	1744;572;594	ENSP00000265990:G1744R;ENSP00000439924:G572R	ENSP00000265990:G1744R	G	+	1	0	BTAF1	93776483	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.869000	0.99810	2.662000	0.90505	0.591000	0.81541	GGG		0.463	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
KNDC1	85442	broad.mit.edu	37	10	135020727	135020727	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:135020727C>A	ENST00000304613.3	+	20	3687	c.3666C>A	c.(3664-3666)gaC>gaA	p.D1222E	KNDC1_ENST00000368572.2_Missense_Mutation_p.D1224E			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1222					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		ACACGCTGGACTTCAGCCCCC	0.687																																						uc001llz.1																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3664-3666)GAC>GAA		kinase non-catalytic C-lobe domain (KIND)							38.0	37.0	37.0					10																	135020727		2203	4299	6502	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135020727C>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3666C>A	10.37:g.135020727C>A	ENSP00000304437:p.Asp1222Glu						p.D1222E	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	20	3667	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1222					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3666C>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762642	0.49574	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.12255	2.7;2.7	3.63	1.71	0.24356	Ras guanine nucleotide exchange factor, domain (1);	0.071241	0.53938	U	0.000058	T	0.08313	0.0207	N	0.24115	0.695	0.38290	D	0.942679	P	0.47106	0.89	B	0.42625	0.393	T	0.39961	-0.9588	10	0.19147	T	0.46	-28.803	7.9462	0.29987	0.0:0.7789:0.0:0.2211	.	1222	Q76NI1	VKIND_HUMAN	E	1222;1224	ENSP00000304437:D1222E;ENSP00000357561:D1224E	ENSP00000304437:D1222E	D	+	3	2	KNDC1	134870717	0.809000	0.29036	0.999000	0.59377	0.904000	0.53231	-0.234000	0.09028	0.299000	0.22661	0.431000	0.28591	GAC		0.687	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
LRP4	4038	broad.mit.edu	37	11	46894746	46894746	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:46894746G>A	ENST00000378623.1	-	30	4730	c.4488C>T	c.(4486-4488)atC>atT	p.I1496I	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1496					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTGCCCGTTCGATCTTGGCAA	0.552																																						uc001ndn.3																			0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(4486-4488)ATC>ATT		low density lipoprotein receptor-related protein							101.0	90.0	93.0					11																	46894746		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46894746G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4488C>T	11.37:g.46894746G>A						uc001ndl.2_RNA	p.I1496I	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	30	4634	-			1496			Extracellular (Potential).|LDL-receptor class B 18.		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.4488C>T	CCDS31478.1																																																																																				0.552	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
OR4A15	81328	broad.mit.edu	37	11	55135883	55135883	+	Missense_Mutation	SNP	C	C	T	rs374555766		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:55135883C>T	ENST00000314706.3	+	1	524	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGCTGTTGGCGGCCTGGATT	0.443																																						uc010rif.1																			0				ovary(1)|skin(1)	2						c.(523-525)GCG>GTG		olfactory receptor, family 4, subfamily A,		C	VAL/ALA	0,4402		0,0,2201	230.0	206.0	214.0		524	0.9	0.0	11		214	1,8591		0,1,4295	no	missense	OR4A15	NM_001005275.1	64	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	175/345	55135883	1,12993	2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135883C>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.524C>T	11.37:g.55135883C>T	ENSP00000325065:p.Ala175Val						p.A175V	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	524	+			175			Helical; Name=4; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.524C>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	0.003	-2.404654	0.00195	0.0	1.16E-4	ENSG00000181958	ENST00000314706	T	0.36878	1.23	3.48	0.889	0.19212	GPCR, rhodopsin-like superfamily (1);	0.899723	0.09261	N	0.826617	T	0.13329	0.0323	N	0.05031	-0.125	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31558	-0.9939	10	0.02654	T	1	.	4.4129	0.11441	0.0:0.1165:0.4033:0.4802	.	175	Q8NGL6	O4A15_HUMAN	V	175	ENSP00000325065:A175V	ENSP00000325065:A175V	A	+	2	0	OR4A15	54892459	0.000000	0.05858	0.028000	0.17463	0.200000	0.23975	-0.127000	0.10547	0.012000	0.14892	-0.487000	0.04747	GCG		0.443	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275	
TECTA	7007	broad.mit.edu	37	11	121000704	121000704	+	Missense_Mutation	SNP	C	C	T	rs139132568		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:121000704C>T	ENST00000392793.1	+	10	2996	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C	TECTA_ENST00000264037.2_Missense_Mutation_p.R909C			O75443	TECTA_HUMAN	tectorin alpha	909	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTATCGAAGCCGCTCCAGGTG	0.562																																						uc010rzo.1																			0				breast(6)|ovary(2)|skin(2)	10						c.(2725-2727)CGC>TGC		tectorin alpha precursor		C	CYS/ARG	0,4406		0,0,2203	65.0	63.0	63.0		2725	5.8	1.0	11	dbSNP_134	63	4,8594	3.7+/-12.6	0,4,4295	yes	missense	TECTA	NM_005422.2	180	0,4,6498	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	909/2156	121000704	4,13000	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000704C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2725C>T	11.37:g.121000704C>T	ENSP00000376543:p.Arg909Cys						p.R909C	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	9	2725	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	909			VWFD 2.			Missense_Mutation	SNP	ENST00000392793.1	37	c.2725C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095954	0.76870	0.0	4.65E-4	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.77620	-1.11;-1.11	5.78	5.78	0.91487	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.060505	0.64402	D	0.000001	D	0.86802	0.6020	M	0.75085	2.285	0.53688	D	0.999972	D	0.89917	1.0	D	0.67231	0.95	D	0.87515	0.2442	10	0.66056	D	0.02	.	14.8062	0.69959	0.144:0.856:0.0:0.0	.	909	O75443	TECTA_HUMAN	C	909	ENSP00000376543:R909C;ENSP00000264037:R909C	ENSP00000264037:R909C	R	+	1	0	TECTA	120505914	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.404000	0.59735	2.742000	0.94016	0.650000	0.86243	CGC		0.562	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
DDX12P	440081	broad.mit.edu	37	12	9574042	9574042	+	IGR	SNP	C	C	A	rs7298124	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:9574042C>A								RP13-735L24.1 (23829 upstream) : SNORA75 (23611 downstream)														p.S665I(1)									GGAGACCCCGCTGCAGATGAC	0.592													C|||	2372	0.473642	0.298	0.572	5008	,	,		-128	0.5655		0.5308	False		,,,				2504	0.4877					uc010sgs.1																			1	Substitution - Missense(1)		kidney(1)		0						c.(1993-1995)AGC>ATC		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12		C		445,939		66,313,313	70.0	67.0	68.0			0.5	0.4	12	dbSNP_116	68	1684,1498		447,790,354	no	intergenic				513,1103,667	AA,AC,CC		47.0773,32.1532,46.6272			9574042	2129,2437	692	1591	2283	SO:0001628	intergenic_variant	440081							g.chr12:9574042C>A																													12.37:g.9574042C>A						DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank	p.S665I	NM_004400	NP_004391					20	2189	-									Missense_Mutation	SNP		37	c.1994G>T																																																																																				0	0.592								
PIK3C2G	5288	broad.mit.edu	37	12	18699324	18699324	+	Missense_Mutation	SNP	G	G	A	rs369934938		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:18699324G>A	ENST00000266497.5	+	24	3463	c.3425G>A	c.(3424-3426)cGt>cAt	p.R1142H	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.R1142H|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R1183H			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1142	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AATAATCTTCGTCCACAAGAC	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20835	0.0		0.0	False		,,,				2504	0.0					uc001rdt.2																			0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(3424-3426)CGT>CAT		phosphoinositide-3-kinase, class 2 gamma		G	HIS/ARG	3,3965		0,3,1981	108.0	98.0	101.0		3425	4.1	1.0	12		101	0,8364		0,0,4182	no	missense	PIK3C2G	NM_004570.4	29	0,3,6163	AA,AG,GG		0.0,0.0756,0.0243	probably-damaging	1142/1446	18699324	3,12329	1984	4182	6166	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18699324G>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3425G>A	12.37:g.18699324G>A	ENSP00000266497:p.Arg1142His					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.R1183H|PIK3C2G_uc010sic.1_Missense_Mutation_p.R961H	p.R1142H	NM_004570	NP_004561	O75747	P3C2G_HUMAN			25	3541	+		Hepatocellular(102;0.194)	1142			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3425G>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514458	0.64522	7.56E-4	0.0	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.81499	-1.5;-1.5;-1.5	4.07	4.07	0.47477	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.162226	0.38326	N	0.001739	D	0.84192	0.5418	L	0.46614	1.455	0.45250	D	0.998257	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.82760	-0.0298	10	0.44086	T	0.13	-17.2528	10.1414	0.42738	0.0931:0.0:0.9069:0.0	.	1182;1183;1142	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	H	1142;1142;1183	ENSP00000404845:R1142H;ENSP00000266497:R1142H;ENSP00000445381:R1183H	ENSP00000266497:R1142H	R	+	2	0	PIK3C2G	18590591	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	2.867000	0.48428	2.562000	0.86427	0.655000	0.94253	CGT		0.408	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
KRT79	338785	broad.mit.edu	37	12	53218087	53218087	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:53218087G>T	ENST00000330553.5	-	5	949	c.915C>A	c.(913-915)aaC>aaA	p.N305K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	305	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.N305K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTGCGGTTGTTGTCCATGG	0.597																																						uc001sbb.2																			1	Substitution - Missense(1)	p.N305K(1)	ovary(1)	ovary(2)|skin(2)	4						c.(913-915)AAC>AAA		keratin 6L							107.0	83.0	91.0					12																	53218087		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53218087G>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.915C>A	12.37:g.53218087G>T	ENSP00000328358:p.Asn305Lys					KRT79_uc001sba.2_Missense_Mutation_p.N76K	p.N305K	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			5	948	-			305			Rod.|Linker 12.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.915C>A	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121685	0.77436	.	.	ENSG00000185640	ENST00000330553	T	0.75821	-0.97	4.08	3.19	0.36642	Filament (1);	0.000000	0.53938	D	0.000049	D	0.88548	0.6466	H	0.95884	3.735	0.47476	D	0.999439	D	0.69078	0.997	D	0.65323	0.934	D	0.90911	0.4776	10	0.87932	D	0	.	11.4539	0.50169	0.0902:0.0:0.9098:0.0	.	305	Q5XKE5	K2C79_HUMAN	K	305	ENSP00000328358:N305K	ENSP00000328358:N305K	N	-	3	2	KRT79	51504354	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.358000	0.52284	1.295000	0.44724	0.561000	0.74099	AAC		0.597	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834	
SLC16A7	9194	broad.mit.edu	37	12	60169207	60169207	+	Silent	SNP	T	T	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:60169207T>G	ENST00000261187.4	+	4	1295	c.1131T>G	c.(1129-1131)ctT>ctG	p.L377L	SLC16A7_ENST00000543448.1_Silent_p.L278L|SLC16A7_ENST00000552024.1_Silent_p.L377L|SLC16A7_ENST00000547379.1_Silent_p.L377L|SLC16A7_ENST00000552432.1_Silent_p.L377L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	377					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	CCGTCGGACTTGTCACAATTG	0.438																																						uc001sqs.2																			0				ovary(1)	1						c.(1129-1131)CTT>CTG		solute carrier family 16, member 7	Pyruvic acid(DB00119)						102.0	94.0	97.0					12																	60169207		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60169207T>G	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1131T>G	12.37:g.60169207T>G						SLC16A7_uc001sqt.2_Silent_p.L377L|SLC16A7_uc001squ.2_Silent_p.L377L|SLC16A7_uc009zqi.2_Silent_p.L278L|SLC16A7_uc010ssi.1_Silent_p.L278L	p.L377L	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	1430	+			377			Helical; (Potential).		Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.1131T>G	CCDS8961.1																																																																																				0.438	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731	
KCTD10	83892	broad.mit.edu	37	12	109889455	109889455	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:109889455C>T	ENST00000228495.6	-	7	1168	c.887G>A	c.(886-888)cGc>cAc	p.R296H	KCTD10_ENST00000540089.1_Missense_Mutation_p.R115H|KCTD10_ENST00000424763.2_Missense_Mutation_p.R115H|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540411.1_Missense_Mutation_p.R270H	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	296					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CCTCCGCACGCGCTCGATCCG	0.716																																						uc001toi.1																			0					0						c.(886-888)CGC>CAC		potassium channel tetramerisation domain							51.0	46.0	48.0					12																	109889455		2203	4300	6503	SO:0001583	missense	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109889455C>T	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.887G>A	12.37:g.109889455C>T	ENSP00000228495:p.Arg296His					KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.R270H|KCTD10_uc001toj.1_Missense_Mutation_p.R305H|KCTD10_uc001tok.1_Missense_Mutation_p.R115H	p.R296H	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN			7	975	-			296					Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	ENST00000228495.6	37	c.887G>A	CCDS9128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.333935|5.333935	0.95758|0.95758	.|.	.|.	ENSG00000110906|ENSG00000110906	ENST00000538161|ENST00000228495;ENST00000540089;ENST00000545759;ENST00000424763;ENST00000540411;ENST00000542954;ENST00000535546;ENST00000540402	.|T;T	.|0.56275	.|0.56;0.47	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.125811	.|0.56097	.|D	.|0.000027	T|T	0.75436|0.75436	0.3849|0.3849	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.996;0.996;0.991	T|T	0.79095|0.79095	-0.1944|-0.1944	5|10	.|0.87932	.|D	.|0	-17.7271|-17.7271	17.765|17.765	0.88475|0.88475	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|270;273;296	.|F5GWA4;Q9H3F6-2;Q9H3F6	.|.;.;BACD3_HUMAN	T|H	262|296;115;138;115;270;115;115;115	.|ENSP00000228495:R296H;ENSP00000441672:R270H	.|ENSP00000228495:R296H	A|R	-|-	1|2	0|0	KCTD10|KCTD10	108373838|108373838	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.769000|0.769000	0.43574|0.43574	7.731000|7.731000	0.84895|0.84895	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.716	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954	
OR4K5	79317	broad.mit.edu	37	14	20389343	20389343	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr14:20389343A>T	ENST00000315915.4	+	1	603	c.578A>T	c.(577-579)tAc>tTc	p.Y193F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGACTCTTACATCATTGAA	0.393																																						uc010tkw.1																			0				ovary(1)|skin(1)	2						c.(577-579)TAC>TTC		olfactory receptor, family 4, subfamily K,							254.0	267.0	262.0					14																	20389343		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389343A>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.578A>T	14.37:g.20389343A>T	ENSP00000319511:p.Tyr193Phe						p.Y193F	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	578	+	all_cancers(95;0.00108)		193			Extracellular (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.578A>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	6.678	0.493634	0.12702	.	.	ENSG00000176281	ENST00000315915	T	0.00158	8.65	4.38	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.148479	0.31102	N	0.008248	T	0.00109	0.0003	L	0.31420	0.93	0.09310	N	1	B	0.25007	0.116	B	0.35813	0.211	T	0.12372	-1.0550	10	0.35671	T	0.21	.	4.69	0.12776	0.4987:0.1707:0.0:0.3306	.	193	Q8NGD3	OR4K5_HUMAN	F	193	ENSP00000319511:Y193F	ENSP00000319511:Y193F	Y	+	2	0	OR4K5	19459183	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	0.186000	0.16978	0.694000	0.31654	0.459000	0.35465	TAC		0.393	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483	
OR4N3P	390539	broad.mit.edu	37	15	22414262	22414262	+	IGR	SNP	C	C	T	rs1429510	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr15:22414262C>T								RP11-69H14.6 (30454 upstream) : RP11-2F9.4 (19627 downstream)																							CTTTCCCAGCCGACAAGGTGG	0.453																																						uc001yuf.2																			0					0						c.(559-561)GCC>GCT		RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13;																																				SO:0001628	intergenic_variant	390539							g.chr15:22414262C>T																													15.37:g.22414262C>T							p.A187A	NM_001080841	NP_001074310					1	561	+									Silent	SNP		37	c.561C>T																																																																																				0	0.453								
GABRB3	2562	broad.mit.edu	37	15	26825472	26825472	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr15:26825472C>T	ENST00000311550.5	-	6	787	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	GABRB3_ENST00000299267.4_Missense_Mutation_p.A226T|GABRB3_ENST00000545868.1_Missense_Mutation_p.A141T|GABRB3_ENST00000541819.2_Missense_Mutation_p.A282T|GABRB3_ENST00000400188.3_Missense_Mutation_p.A155T	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	226					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCACCTGTGGCGAAGACAACA	0.572																																						uc001zaz.2																			0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(676-678)GCC>ACC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						107.0	99.0	102.0					15																	26825472		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26825472C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.676G>A	15.37:g.26825472C>T	ENSP00000308725:p.Ala226Thr					GABRB3_uc010uae.1_Missense_Mutation_p.A141T|GABRB3_uc001zba.2_Missense_Mutation_p.A226T|GABRB3_uc001zbb.2_Missense_Mutation_p.A282T	p.A226T	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	6	818	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	226			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.676G>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449197	0.63178	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.35	5.35	0.76521	Neurotransmitter-gated ion-channel ligand-binding (3);	0.047285	0.85682	D	0.000000	T	0.61999	0.2392	N	0.15975	0.35	0.80722	D	1	B;B;B	0.19583	0.023;0.037;0.026	B;B;B	0.15870	0.006;0.014;0.007	T	0.59048	-0.7527	10	0.07644	T	0.81	.	18.4139	0.90562	0.0:1.0:0.0:0.0	.	282;226;226	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	T	226;282;226;155;141	ENSP00000308725:A226T;ENSP00000442408:A282T;ENSP00000299267:A226T;ENSP00000383049:A155T;ENSP00000439169:A141T	ENSP00000299267:A226T	A	-	1	0	GABRB3	24376565	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.913000	0.56394	2.667000	0.90743	0.655000	0.94253	GCC		0.572	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
GOLGA6C	653641	broad.mit.edu	37	15	75557692	75557692	+	Missense_Mutation	SNP	G	G	A	rs199745302		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr15:75557692G>A	ENST00000300576.5	+	9	686	c.686G>A	c.(685-687)cGg>cAg	p.R229Q		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	229						Golgi apparatus (GO:0005794)				ovary(1)	1						CAGCTAGAGCGGGACGAATAT	0.547																																						uc002azs.1																			0				ovary(1)	1						c.(649-651)CGG>CAG		golgi autoantigen, golgin subfamily a, 6D																																				SO:0001583	missense	653641							g.chr15:75557692G>A		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.686G>A	15.37:g.75557692G>A	ENSP00000300576:p.Arg229Gln					uc002azt.1_5'Flank	p.R217Q	NM_001145224	NP_001138696	A6NDK9	GOG6C_HUMAN			9	727	+			229			Potential.			Missense_Mutation	SNP	ENST00000300576.5	37	c.650G>A	CCDS58388.1	.	.	.	.	.	.	.	.	.	.	A	5.903	0.350640	0.11182	.	.	ENSG00000167195	ENST00000300576	T	0.37915	1.17	0.167	-0.334	0.12666	.	.	.	.	.	T	0.39733	0.1089	M	0.88181	2.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40590	-0.9555	9	0.46703	T	0.11	.	4.6561	0.12618	0.3009:0.0:0.6991:0.0	.	229	A6NDK9	GOG6C_HUMAN	Q	229	ENSP00000300576:R229Q	ENSP00000300576:R229Q	R	+	2	0	GOLGA6C	73344745	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	2.328000	0.43867	-0.841000	0.04200	-0.849000	0.03036	CGG		0.547	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404	
HAGH	3029	broad.mit.edu	37	16	1867224	1867224	+	Missense_Mutation	SNP	G	G	A	rs150713216		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:1867224G>A	ENST00000397356.3	-	6	996	c.590C>T	c.(589-591)gCg>gTg	p.A197V	HAGH_ENST00000455446.2_Missense_Mutation_p.R161W|HAGH_ENST00000566709.1_Missense_Mutation_p.A149V|HAGH_ENST00000397353.2_Missense_Mutation_p.A149V	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	197					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CATCTCATCCGCAGTCCCTTC	0.637																																					Pancreas(55;1048 1176 25227 40124 41333)	uc002cna.2																			0				ovary(1)	1						c.(589-591)GCG>GTG		hydroxyacylglutathione hydrolase isoform 1	Glutathione(DB00143)	G	VAL/ALA,VAL/ALA	1,4397	2.1+/-5.4	0,1,2198	55.0	55.0	55.0		446,590	5.2	0.1	16	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	HAGH	NM_001040427.1,NM_005326.4	64,64	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	149/261,197/309	1867224	1,12997	2199	4300	6499	SO:0001583	missense	3029				glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr16:1867224G>A	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"""hydroxyacyl glutathione hydrolase"""			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.590C>T	16.37:g.1867224G>A	ENSP00000380514:p.Ala197Val					HAGH_uc002cmz.2_Missense_Mutation_p.A149V|HAGH_uc010uvp.1_Missense_Mutation_p.R161W|HAGH_uc002cnb.1_Missense_Mutation_p.A149V	p.A197V	NM_005326	NP_005317	Q16775	GLO2_HUMAN			6	997	-		Hepatocellular(780;0.00335)	197					A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	c.590C>T	CCDS10447.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.986483|3.986483	0.74589|0.74589	2.27E-4|2.27E-4	0.0|0.0	ENSG00000063854|ENSG00000063854	ENST00000397356;ENST00000397353|ENST00000455446	D;D|.	0.95821|.	-3.82;-3.82|.	5.15|5.15	5.15|5.15	0.70609|0.70609	Beta-lactamase-like (2);|.	0.111909|.	0.64402|.	D|.	0.000012|.	T|T	0.78181|0.78181	0.4243|0.4243	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.67145	1.0;1.0|0.996	D;P|P	0.67900|0.57846	0.954;0.821|0.828	T|T	0.82307|0.82307	-0.0522|-0.0522	10|8	0.56958|0.72032	D|D	0.05|0.01	-1.1492|-1.1492	17.6003|17.6003	0.88024|0.88024	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	149;197|161	Q16775-2;Q16775|E7EN93	.;GLO2_HUMAN|.	V|W	197;149|161	ENSP00000380514:A197V;ENSP00000380511:A149V|.	ENSP00000380511:A149V|ENSP00000406552:R161W	A|R	-|-	2|1	0|2	HAGH|HAGH	1807225|1807225	1.000000|1.000000	0.71417|0.71417	0.084000|0.084000	0.20598|0.20598	0.170000|0.170000	0.22686|0.22686	9.295000|9.295000	0.96095|0.96095	2.402000|2.402000	0.81655|0.81655	0.643000|0.643000	0.83706|0.83706	GCG|CGG		0.637	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326	
PDILT	204474	broad.mit.edu	37	16	20376785	20376785	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:20376785G>A	ENST00000302451.4	-	9	1442	c.1194C>T	c.(1192-1194)aaC>aaT	p.N398N		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	398	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGACGACTACGTTGAAGTTCT	0.448																																						uc002dhc.1																			0				large_intestine(1)	1						c.(1192-1194)AAC>AAT		protein disulfide isomerase-like, testis							175.0	164.0	168.0					16																	20376785		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20376785G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1194C>T	16.37:g.20376785G>A							p.N398N	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			9	1417	-			398			Thioredoxin.		Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1194C>T	CCDS10584.1																																																																																				0.448	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
Unknown	0	broad.mit.edu	37	16	33784791	33784791	+	IGR	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:33784791C>T								RP11-812E19.3 (7047 upstream) : AC136932.2 (161157 downstream)																							ACCTCCTGGGCTGCCTCCTCA	0.632																																						uc010vgb.1																			0											c.(178-180)GGC>GGT		RecName: Full=Transporter;																																				SO:0001628	intergenic_variant	0							g.chr16:33784791C>T																													16.37:g.33784791C>T							p.G60G							2	200	+									Silent	SNP		37	c.180C>T																																																																																				0	0.632								
IL17C	27189	broad.mit.edu	37	16	88705562	88705562	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:88705562G>A	ENST00000244241.4	+	2	229	c.180G>A	c.(178-180)caG>caA	p.Q60Q		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	60					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AGTGGGGGCAGGCTTTGCCTG	0.697																																						uc002fla.2																			0					0						c.(178-180)CAG>CAA		interleukin 17C precursor							30.0	38.0	35.0					16																	88705562		2125	4224	6349	SO:0001819	synonymous_variant	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88705562G>A	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.180G>A	16.37:g.88705562G>A							p.Q60Q	NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	229	+			60					Q3MIG8|Q9HC75	Silent	SNP	ENST00000244241.4	37	c.180G>A	CCDS42217.1																																																																																				0.697	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278	
RAPGEFL1	51195	broad.mit.edu	37	17	38340589	38340589	+	Silent	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:38340589C>T	ENST00000456989.2	+	3	316	c.270C>T	c.(268-270)ggC>ggT	p.G90G	RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000544503.1_Silent_p.G84G|RAPGEFL1_ENST00000264644.6_Silent_p.G35G|RAPGEFL1_ENST00000436615.3_Silent_p.G35G			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	241	Gly-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGGGGGCCGGCCACATCATCA	0.587																																					Esophageal Squamous(28;274 750 6870 14218 42203)	uc010cwu.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(103-105)GGC>GGT		Rap guanine nucleotide exchange factor							53.0	63.0	59.0					17																	38340589		2203	4300	6503	SO:0001819	synonymous_variant	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38340589C>T	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.270C>T	17.37:g.38340589C>T							p.G35G	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN			3	595	+			241						Silent	SNP	ENST00000456989.2	37	c.105C>T																																																																																					0.587	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339	
DHX40	79665	broad.mit.edu	37	17	57665340	57665340	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:57665340C>T	ENST00000251241.4	+	12	1655	c.1508C>T	c.(1507-1509)gCt>gTt	p.A503V	DHX40_ENST00000425628.3_Missense_Mutation_p.A426V|DHX40_ENST00000451169.2_Missense_Mutation_p.A455V	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	503							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATAAAAGCTGCTTCCCTGGAT	0.398																																						uc002ixn.1																			0					0						c.(1507-1509)GCT>GTT		DEAH (Asp-Glu-Ala-His) box polypeptide 40							126.0	112.0	117.0					17																	57665340		2202	4298	6500	SO:0001583	missense	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57665340C>T	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1508C>T	17.37:g.57665340C>T	ENSP00000251241:p.Ala503Val					DHX40_uc010woe.1_Missense_Mutation_p.A426V|DHX40_uc010wof.1_Missense_Mutation_p.A18V	p.A503V	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN			12	1655	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		503					B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	c.1508C>T	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	-	15.10	2.733354	0.48939	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.30981	1.51;1.51	5.3	4.33	0.51752	Helicase-associated domain (2);	0.150046	0.64402	D	0.000012	T	0.19208	0.0461	L	0.28694	0.88	0.49582	D	0.9998	B;B	0.33171	0.4;0.27	B;B	0.26969	0.075;0.054	T	0.04930	-1.0917	10	0.13853	T	0.58	.	13.4097	0.60935	0.0:0.9241:0.0:0.0759	.	426;503	F5H625;Q8IX18	.;DHX40_HUMAN	V	503;426;503;455	ENSP00000251241:A503V;ENSP00000396039:A455V	ENSP00000251241:A503V	A	+	2	0	DHX40	55020122	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.729000	0.68538	2.487000	0.83934	0.544000	0.68410	GCT		0.398	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612	
SCN4A	6329	broad.mit.edu	37	17	62019282	62019282	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:62019282G>A	ENST00000435607.1	-	24	4436	c.4360C>T	c.(4360-4362)Cgg>Tgg	p.R1454W	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1454W	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1454					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGCCCAATCCGCGCCAGGCGG	0.642																																						uc002jds.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(4360-4362)CGG>TGG		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						42.0	43.0	43.0					17																	62019282		2198	4298	6496	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62019282G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4360C>T	17.37:g.62019282G>A	ENSP00000396320:p.Arg1454Trp						p.R1454W	NM_000334	NP_000325	P35499	SCN4A_HUMAN			24	4437	-			1454			Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV.		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4360C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112504	0.37242	.	.	ENSG00000007314	ENST00000435607	D	0.98822	-5.16	3.71	2.71	0.32032	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	H	0.99815	4.805	0.53005	D	0.999963	D	0.76494	0.999	D	0.66716	0.946	D	0.97845	1.0271	10	0.87932	D	0	.	9.8178	0.40862	0.0:0.0:0.476:0.524	.	1454	P35499	SCN4A_HUMAN	W	1454	ENSP00000396320:R1454W	ENSP00000396320:R1454W	R	-	1	2	SCN4A	59373014	0.369000	0.25039	0.481000	0.27354	0.403000	0.30841	0.683000	0.25349	0.884000	0.36064	0.407000	0.27541	CGG		0.642	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
LAMA1	284217	broad.mit.edu	37	18	6982557	6982557	+	Silent	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr18:6982557C>T	ENST00000389658.3	-	41	5922	c.5829G>A	c.(5827-5829)gcG>gcA	p.A1943A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1943	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCTGCACGGCCGCTTTCCCGT	0.547																																						uc002knm.2																			0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(5827-5829)GCG>GCA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						146.0	142.0	144.0					18																	6982557		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6982557C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5829G>A	18.37:g.6982557C>T						LAMA1_uc010wzj.1_Silent_p.A1419A	p.A1943A	NM_005559	NP_005550	P25391	LAMA1_HUMAN			41	5923	-		Colorectal(10;0.172)	1943			Domain II and I.			Silent	SNP	ENST00000389658.3	37	c.5829G>A	CCDS32787.1																																																																																				0.547	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
ATP8B3	148229	broad.mit.edu	37	19	1805392	1805392	+	Missense_Mutation	SNP	C	C	A	rs202113850		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:1805392C>A	ENST00000310127.6	-	10	1123	c.885G>T	c.(883-885)aaG>aaT	p.K295N	ATP8B3_ENST00000539485.1_Missense_Mutation_p.K295N|ATP8B3_ENST00000525591.1_Missense_Mutation_p.K242N|ATP8B3_ENST00000526092.2_Missense_Mutation_p.K242N	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	295					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCATCTTCTTTATAGTGG	0.478																																						uc002ltw.2																			0					0						c.(883-885)AAG>AAT		ATPase, class I, type 8B, member 3							72.0	71.0	72.0					19																	1805392		1950	4138	6088	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1805392C>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.885G>T	19.37:g.1805392C>A	ENSP00000311336:p.Lys295Asn					ATP8B3_uc002ltv.2_Missense_Mutation_p.K242N|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.K43N|ATP8B3_uc002ltz.1_Missense_Mutation_p.K242N	p.K295N	NM_138813	NP_620168	O60423	AT8B3_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)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1119	-		Hepatocellular(1079;0.137)	295			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.885G>T	CCDS45901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.251|0.251	-1.006178|-1.006178	0.02112|0.02112	.|.	.|.	ENSG00000130270|ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339|ENST00000533993	T;T;T;T|.	0.78003|.	-1.14;-1.14;-1.14;-1.14|.	4.27|4.27	1.96|1.96	0.26148|0.26148	ATPase, P-type, ATPase-associated domain (1);|.	0.967684|.	0.08525|.	N|.	0.932894|.	T|T	0.34600|0.34600	0.0903|0.0903	L|L	0.37466|0.37466	1.105|1.105	0.09310|0.09310	N|N	1|1	P;P;P|.	0.39920|.	0.646;0.642;0.695|.	B;B;B|.	0.38106|.	0.164;0.265;0.179|.	T|T	0.22034|0.22034	-1.0228|-1.0228	10|5	0.23302|.	T|.	0.38|.	.|.	7.9389|7.9389	0.29946|0.29946	0.0:0.7215:0.1774:0.101|0.0:0.7215:0.1774:0.101	.|.	242;295;242|.	F5H3R9;O60423;Q7Z485|.	.;AT8B3_HUMAN;.|.	N|I	295;295;242;242;242|258	ENSP00000311336:K295N;ENSP00000443574:K295N;ENSP00000437115:K242N;ENSP00000445204:K242N|.	ENSP00000311336:K295N|.	K|R	-|-	3|2	2|0	ATP8B3|ATP8B3	1756392|1756392	0.000000|0.000000	0.05858|0.05858	0.234000|0.234000	0.24042|0.24042	0.156000|0.156000	0.22039|0.22039	-0.162000|-0.162000	0.10012|0.10012	1.012000|1.012000	0.39366|0.39366	0.561000|0.561000	0.74099|0.74099	AAG|AGA		0.478	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813	
DOT1L	84444	broad.mit.edu	37	19	2227030	2227030	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:2227030G>A	ENST00000398665.3	+	27	4546	c.4510G>A	c.(4510-4512)Gcc>Acc	p.A1504T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1504					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCCGGCCGCCGCAGGCCT	0.697																																						uc002lvb.3																			0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(4510-4512)GCC>ACC		DOT1-like, histone H3 methyltransferase							7.0	9.0	8.0					19																	2227030		2001	4093	6094	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2227030G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4510G>A	19.37:g.2227030G>A	ENSP00000381657:p.Ala1504Thr					DOT1L_uc002lvc.1_Missense_Mutation_p.A798T	p.A1504T	NM_032482	NP_115871	Q8TEK3	DOT1L_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)|STAD - Stomach adenocarcinoma(1328;0.18)	27	4546	+		Hepatocellular(1079;0.137)	1504					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.4510G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471336	0.43942	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590;ENST00000446286	T;T	0.41400	1.42;1.0	4.09	4.09	0.47781	.	0.000000	0.64402	D	0.000012	T	0.60104	0.2243	M	0.64997	1.995	0.20489	N	0.999895	D;D	0.89917	1.0;0.999	D;D	0.80764	0.925;0.994	T	0.54084	-0.8346	10	0.87932	D	0	-10.1866	13.4875	0.61375	0.0:0.0:1.0:0.0	.	1504;1504	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	T	1504;1504;384;39	ENSP00000381657:A1504T;ENSP00000407411:A384T	ENSP00000221482:A1504T	A	+	1	0	DOT1L	2178030	0.998000	0.40836	0.189000	0.23252	0.008000	0.06430	4.404000	0.59735	1.824000	0.53156	0.561000	0.74099	GCC		0.697	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482	
OR7G3	390883	broad.mit.edu	37	19	9237058	9237058	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:9237058G>A	ENST00000305444.2	-	1	568	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAGGACATCAGAACAGGCGAG	0.463																																						uc010xkl.1																			0				ovary(1)	1						c.(568-570)TCT>TTT		olfactory receptor, family 7, subfamily G,							73.0	71.0	71.0					19																	9237058		2203	4300	6503	SO:0001583	missense	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237058G>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.569C>T	19.37:g.9237058G>A	ENSP00000302867:p.Ser190Phe						p.S190F	NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN			1	569	-			190			Extracellular (Potential).		Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	c.569C>T	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.764210	0.49574	.	.	ENSG00000170920	ENST00000305444	T	0.00253	8.43	3.96	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	U	0.001172	T	0.00875	0.0029	H	0.96720	3.87	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.14008	-1.0488	10	0.72032	D	0.01	.	13.1388	0.59423	0.0:0.1626:0.8374:0.0	.	190	Q8NG95	OR7G3_HUMAN	F	190	ENSP00000302867:S190F	ENSP00000302867:S190F	S	-	2	0	OR7G3	9098058	0.000000	0.05858	0.235000	0.24058	0.142000	0.21351	0.565000	0.23578	2.251000	0.74343	0.551000	0.68910	TCT		0.463	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1		
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507																																						uc002mng.2																			0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(2152-2154)ATGfs		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						266.0	220.0	236.0					19																	10262139		2203	4300	6503	SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262139delT	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2152delA	19.37:g.10262139delT	ENSP00000345739:p.Met718fs					DNMT1_uc010xlc.1_Frame_Shift_Del_p.M734fs|DNMT1_uc002mnh.2_Frame_Shift_Del_p.M613fs|DNMT1_uc010xld.1_Frame_Shift_Del_p.M718fs	p.M718fs	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2332	-			718					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Del	DEL	ENST00000340748.4	37	c.2152delA	CCDS12228.1																																																																																				0.507	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
C5AR2	27202	broad.mit.edu	37	19	47844107	47844107	+	Silent	SNP	G	G	A	rs115216760	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:47844107G>A	ENST00000595464.1	+	2	269	c.51G>A	c.(49-51)tcG>tcA	p.S17S	C5AR2_ENST00000600626.1_Silent_p.S17S|C5AR2_ENST00000257267.2_Silent_p.S17S	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	17					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										GCGACCTCTCGGACCGCCCTG	0.627													G|||	29	0.00579073	0.0197	0.0043	5008	,	,		16077	0.0		0.0	False		,,,				2504	0.0					uc010ela.1																			0				ovary(1)	1						c.(49-51)TCG>TCA		G protein-coupled receptor 77		G		82,4324	64.7+/-102.0	1,80,2122	60.0	62.0	61.0		51	-2.8	0.0	19	dbSNP_132	61	0,8600		0,0,4300	no	coding-synonymous	GPR77	NM_018485.1		1,80,6422	AA,AG,GG		0.0,1.8611,0.6305		17/338	47844107	82,12924	2203	4300	6503	SO:0001819	synonymous_variant	27202				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47844107G>A	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.51G>A	19.37:g.47844107G>A						GPR77_uc002pgk.1_Silent_p.S17S	p.S17S	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)	2	269	+		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)	17			Extracellular (Potential).		B2RA09	Silent	SNP	ENST00000595464.1	37	c.51G>A	CCDS12699.1																																																																																				0.627	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485	
PTPN18	26469	broad.mit.edu	37	2	131128796	131128796	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:131128796G>A	ENST00000175756.5	+	12	1050	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	PTPN18_ENST00000347849.3_Missense_Mutation_p.A210T	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	317					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CTACGACGATGCCCTCTTCCT	0.622																																						uc002trc.2																			0				ovary(3)|kidney(1)	4						c.(949-951)GCC>ACC		protein tyrosine phosphatase, non-receptor type							90.0	86.0	87.0					2																	131128796		2203	4300	6503	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131128796G>A	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.949G>A	2.37:g.131128796G>A	ENSP00000175756:p.Ala317Thr					PTPN18_uc002trd.2_Missense_Mutation_p.A296T|PTPN18_uc002trb.2_Missense_Mutation_p.A210T|PTPN18_uc002tre.2_5'Flank	p.A317T	NM_014369	NP_055184	Q99952	PTN18_HUMAN			12	1050	+	Colorectal(110;0.1)		317					B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.949G>A	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992132	0.74703	.	.	ENSG00000072135	ENST00000175756;ENST00000347849;ENST00000409022	T;T	0.12774	3.46;2.65	3.95	3.06	0.35304	.	0.655780	0.12628	N	0.452460	T	0.16257	0.0391	L	0.50333	1.59	0.09310	N	1	P;D;D	0.55605	0.908;0.972;0.972	P;P;P	0.48304	0.449;0.573;0.573	T	0.10245	-1.0638	10	0.18276	T	0.48	.	9.226	0.37407	0.0:0.0:0.7858:0.2142	.	296;317;210	E7EMB8;Q99952;B4E1E6	.;PTN18_HUMAN;.	T	317;210;296	ENSP00000175756:A317T;ENSP00000310092:A210T	ENSP00000175756:A317T	A	+	1	0	PTPN18	130845266	0.083000	0.21467	0.043000	0.18650	0.518000	0.34316	2.040000	0.41203	1.218000	0.43458	0.591000	0.81541	GCC		0.622	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2		
LRP1B	53353	broad.mit.edu	37	2	141812781	141812781	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:141812781A>T	ENST00000389484.3	-	10	2427	c.1456T>A	c.(1456-1458)Tgt>Agt	p.C486S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	486	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGTGTGAACAGCCCCCTGGC	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1456-1458)TGT>AGT		low density lipoprotein-related protein 1B							114.0	101.0	105.0					2																	141812781		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141812781A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1456T>A	2.37:g.141812781A>T	ENSP00000374135:p.Cys486Ser	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.C486S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	10	2428	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	486			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1456T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233140	0.79688	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99252	-5.63	5.45	5.45	0.79879	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	U	0.000000	D	0.99569	0.9845	H	0.94183	3.505	0.58432	D	0.999999	D	0.76494	0.999	D	0.78314	0.991	D	0.97929	1.0319	10	0.87932	D	0	.	15.5204	0.75862	1.0:0.0:0.0:0.0	.	486	Q9NZR2	LRP1B_HUMAN	S	486;424	ENSP00000374135:C486S	ENSP00000374135:C486S	C	-	1	0	LRP1B	141529251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.227000	0.95236	2.077000	0.62373	0.455000	0.32223	TGT		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
TTN	7273	broad.mit.edu	37	2	179606204	179606204	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:179606204G>T	ENST00000591111.1	-	46	11029	c.10805C>A	c.(10804-10806)aCt>aAt	p.T3602N	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T3919N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T3748N|TTN_ENST00000359218.5_Missense_Mutation_p.T3681N|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.T3556N			Q8WZ42	TITIN_HUMAN	titin	13915					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGTTTCAGTGTCTTTGTG	0.428																																						uc010zfh.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11242-11244)ACT>AAT		titin isoform novex-2							149.0	144.0	145.0					2																	179606204		1893	4109	6002	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606204G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10805C>A	2.37:g.179606204G>T	ENSP00000465570:p.Thr3602Asn					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3681N|TTN_uc010zfj.1_Missense_Mutation_p.T3556N|TTN_uc002umz.1_Intron	p.T3748N	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11467	-			3721					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11243C>A		.	.	.	.	.	.	.	.	.	.	G	6.810	0.518599	0.13005	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61859	0.13;0.08;0.07	5.87	0.582	0.17412	.	.	.	.	.	T	0.42017	0.1184	L	0.40543	1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41142	-0.9525	9	0.87932	D	0	.	1.7462	0.02962	0.1772:0.2614:0.3568:0.2046	.	3556;3681;3748	D3DPF9;E7EQE6;E7ET18	.;.;.	N	3556;3748;3681;3556	ENSP00000434586:T3556N;ENSP00000340554:T3748N;ENSP00000352154:T3681N	ENSP00000340554:T3748N	T	-	2	0	TTN	179314449	0.000000	0.05858	0.003000	0.11579	0.661000	0.39034	-0.035000	0.12205	0.224000	0.20940	0.655000	0.94253	ACT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
FN1	2335	broad.mit.edu	37	2	216232682	216232682	+	Missense_Mutation	SNP	C	C	G	rs191304573		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:216232682C>G	ENST00000359671.1	-	41	6914	c.6649G>C	c.(6649-6651)Gtt>Ctt	p.V2217L	FN1_ENST00000357867.4_Missense_Mutation_p.V2007L|FN1_ENST00000336916.4_Missense_Mutation_p.V2186L|FN1_ENST00000421182.1_Missense_Mutation_p.V2071L|FN1_ENST00000443816.1_Missense_Mutation_p.V2096L|FN1_ENST00000356005.4_Missense_Mutation_p.V2127L|FN1_ENST00000346544.3_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.V2277L|FN1_ENST00000432072.2_Missense_Mutation_p.V2098L|FN1_ENST00000446046.1_Missense_Mutation_p.V2161L|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000345488.5_Missense_Mutation_p.V2015L|FN1_ENST00000354785.4_Missense_Mutation_p.V2308L			P02751	FINC_HUMAN	fibronectin 1	2217	Fibrin-binding 2.|Fibronectin type-I 10. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCATCTCCAACGGCATAATGG	0.438																																						uc002vfa.2																			0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(6922-6924)GTT>CTT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						141.0	121.0	128.0					2																	216232682		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216232682C>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6649G>C	2.37:g.216232682C>G	ENSP00000352696:p.Val2217Leu					FN1_uc002vfb.2_Missense_Mutation_p.V2096L|FN1_uc002vfc.2_Missense_Mutation_p.V2071L|FN1_uc002vfd.2_Missense_Mutation_p.V2252L|FN1_uc002vfe.2_Missense_Mutation_p.V2186L|FN1_uc002vff.2_Missense_Mutation_p.V2161L|FN1_uc002vfg.2_Missense_Mutation_p.V2127L|FN1_uc002vfh.2_Missense_Mutation_p.V2007L|FN1_uc002vfi.2_Missense_Mutation_p.V2277L|FN1_uc002vfj.2_Missense_Mutation_p.V2098L|FN1_uc002vez.2_Missense_Mutation_p.V471L|FN1_uc010zjp.1_Missense_Mutation_p.V845L|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA	p.V2308L	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	42	7188	-		Renal(323;0.127)	2217			Fibronectin type-I 10.|Fibrin-binding 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.6922G>C		.	.	.	.	.	.	.	.	.	.	C	11.66	1.703483	0.30232	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.75	-7.31	0.01441	Fibronectin, type I (4);Complement control module (1);	0.638346	0.15074	N	0.282016	T	0.41442	0.1159	L	0.42245	1.32	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B	0.29378	0.003;0.048;0.003;0.003;0.243;0.177;0.025;0.02;0.02;0.002;0.112	B;B;B;B;B;B;B;B;B;B;B	0.38842	0.011;0.031;0.011;0.006;0.283;0.085;0.094;0.057;0.034;0.012;0.113	T	0.35773	-0.9775	10	0.54805	T	0.06	.	15.5956	0.76578	0.0:0.6641:0.0978:0.2381	.	2098;2277;2007;2127;2161;2186;2218;2071;2096;2308;2217	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	L	2071;2277;2186;2007;2308;2218;2217;2015;2161;2096;2098;2127;934	ENSP00000394423:V2071L;ENSP00000323534:V2277L;ENSP00000338200:V2186L;ENSP00000350534:V2007L;ENSP00000346839:V2308L;ENSP00000352696:V2217L;ENSP00000273049:V2015L;ENSP00000410422:V2161L;ENSP00000415018:V2096L;ENSP00000399538:V2098L;ENSP00000348285:V2127L;ENSP00000416139:V934L	ENSP00000265313:V2218L	V	-	1	0	FN1	215940927	0.030000	0.19436	0.536000	0.28039	0.025000	0.11179	-0.492000	0.06467	-1.377000	0.02123	-0.482000	0.04802	GTT		0.438	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
PAX3	5077	broad.mit.edu	37	2	223066852	223066852	+	Missense_Mutation	SNP	C	C	T	rs549206921		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:223066852C>T	ENST00000350526.4	-	8	1367	c.1231G>A	c.(1231-1233)Gcg>Acg	p.A411T	PAX3_ENST00000392070.2_Missense_Mutation_p.A411T|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.A411T|PAX3_ENST00000409551.3_Missense_Mutation_p.A410T|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000336840.6_Intron	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	411					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGAGAGCGCGTAATCAGTC	0.547			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.2				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	0				soft_tissue(761)|ovary(4)|skin(1)	766						c.(1231-1233)GCG>ACG		paired box 3 isoform PAX3							71.0	69.0	70.0					2																	223066852		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223066852C>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1231G>A	2.37:g.223066852C>T	ENSP00000343052:p.Ala411Thr					PAX3_uc002vmt.1_Missense_Mutation_p.A411T|PAX3_uc002vmy.1_Missense_Mutation_p.A410T|PAX3_uc002vmv.1_Missense_Mutation_p.A411T|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron	p.A411T	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1597	-		Renal(207;0.0183)	411					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.1231G>A	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518769	0.85495	.	.	ENSG00000135903	ENST00000392069;ENST00000350526;ENST00000392070;ENST00000409551;ENST00000464706	D;D;D;D	0.94576	-3.46;-3.45;-3.44;-3.45	5.81	5.81	0.92471	.	0.051283	0.85682	D	0.000000	D	0.94345	0.8182	L	0.46157	1.445	0.80722	D	1	P;D;D	0.61697	0.894;0.982;0.99	B;B;P	0.49332	0.217;0.383;0.607	D	0.93918	0.7203	10	0.49607	T	0.09	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	411;410;411	P23760;Q494Z4;G5E9C1	PAX3_HUMAN;.;.	T	411;411;411;410;128	ENSP00000375921:A411T;ENSP00000343052:A411T;ENSP00000375922:A411T;ENSP00000386750:A410T	ENSP00000343052:A411T	A	-	1	0	PAX3	222775096	1.000000	0.71417	0.686000	0.30086	0.441000	0.31987	5.666000	0.68059	2.736000	0.93811	0.655000	0.94253	GCG		0.547	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
KLHL30	377007	broad.mit.edu	37	2	239049594	239049594	+	Missense_Mutation	SNP	G	G	A	rs372812743		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:239049594G>A	ENST00000409223.1	+	2	306	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	KLHL30_ENST00000305959.4_Missense_Mutation_p.A49T			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	67	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGTGACTTCGCCGAGAGCTT	0.677																																						uc002vxr.1																			0					0						c.(145-147)GCC>ACC		kelch-like 30		G	THR/ALA	0,4298		0,0,2149	91.0	103.0	99.0		199	3.9	0.0	2		99	1,8473		0,1,4236	no	missense	KLHL30	NM_198582.3	58	0,1,6385	AA,AG,GG		0.0118,0.0,0.0078	benign	67/579	239049594	1,12771	2149	4237	6386	SO:0001583	missense	377007							g.chr2:239049594G>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.199G>A	2.37:g.239049594G>A	ENSP00000386389:p.Ala67Thr						p.A49T	NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	1	178	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	67			BTB.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.145G>A	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	4.162	0.028603	0.08054	0.0	1.18E-4	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.68479	-0.33;-0.33	5.75	3.89	0.44902	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.255981	0.39407	N	0.001376	T	0.49847	0.1581	L	0.41236	1.265	0.09310	N	1	B	0.18310	0.027	B	0.16722	0.016	T	0.29882	-0.9997	10	0.14252	T	0.57	.	5.202	0.15269	0.0762:0.241:0.5499:0.133	.	67	Q0D2K2	KLH30_HUMAN	T	67;49	ENSP00000386389:A67T;ENSP00000302386:A49T	ENSP00000302386:A49T	A	+	1	0	KLHL30	238714333	0.915000	0.31059	0.031000	0.17742	0.096000	0.18686	2.630000	0.46494	0.721000	0.32231	0.655000	0.94253	GCC		0.677	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582	
GFRA4	64096	broad.mit.edu	37	20	3640880	3640880	+	Silent	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr20:3640880G>T	ENST00000319242.3	-	4	743	c.744C>A	c.(742-744)gcC>gcA	p.A248A	GFRA4_ENST00000290417.2_Silent_p.A218A			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	248					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						CGCTGGCAAAGGCCTGAATGG	0.647																																						uc002wio.2																			0					0						c.(742-744)GCC>GCA		GDNF family receptor alpha 4 isoform b							13.0	15.0	14.0					20																	3640880		2199	4283	6482	SO:0001819	synonymous_variant	64096					anchored to membrane|extracellular region|plasma membrane	receptor activity	g.chr20:3640880G>T	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"""persephin receptor"""					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.744C>A	20.37:g.3640880G>T						GFRA4_uc002win.2_Silent_p.A218A	p.A248A	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN			4	744	-			248					Q5JT74|Q9H191|Q9H192	Silent	SNP	ENST00000319242.3	37	c.744C>A	CCDS13056.1																																																																																				0.647	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762	
ERG	2078	broad.mit.edu	37	21	39755623	39755623	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr21:39755623A>G	ENST00000417133.2	-	12	1348	c.1163T>C	c.(1162-1164)gTc>gCc	p.V388A	ERG_ENST00000398911.1_Missense_Mutation_p.V364A|ERG_ENST00000442448.1_Missense_Mutation_p.V364A|ERG_ENST00000398907.1_Missense_Mutation_p.V358A|ERG_ENST00000398919.2_Missense_Mutation_p.V388A|ERG_ENST00000398910.1_Missense_Mutation_p.V365A|ERG_ENST00000288319.7_Missense_Mutation_p.V381A|ERG_ENST00000453032.2_Missense_Mutation_p.V289A|ERG_ENST00000398905.1_Missense_Mutation_p.V357A|ERG_ENST00000398897.1_Missense_Mutation_p.V265A	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTTCCCATGGACCTTGGTCAT	0.592			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.2				Dom	yes		21	21q22.3	2078		v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""				TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	0				prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828						c.(1162-1164)GTC>GCC		ets-related isoform 4							138.0	116.0	124.0					21																	39755623		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755623A>G		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1163T>C	21.37:g.39755623A>G	ENSP00000414150:p.Val388Ala					ERG_uc002yxa.2_Missense_Mutation_p.V381A|ERG_uc011aek.1_Missense_Mutation_p.V289A|ERG_uc010gnv.2_Missense_Mutation_p.V265A|ERG_uc010gnx.2_Missense_Mutation_p.V364A|ERG_uc011ael.1_Missense_Mutation_p.V388A|ERG_uc002yxb.2_Missense_Mutation_p.V364A	p.V388A	NM_001136155	NP_001129627	P11308	ERG_HUMAN			12	1458	-		Prostate(19;3.6e-06)	388			ETS.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.1163T>C	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443429	0.83993	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	M	0.92923	3.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.997;0.993;0.996	D	0.86360	0.1716	10	0.87932	D	0	.	15.0919	0.72201	1.0:0.0:0.0:0.0	.	388;357;364;381	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	A	357;358;381;265;364;388;365;364;289;388	ENSP00000381877:V357A;ENSP00000381879:V358A;ENSP00000288319:V381A;ENSP00000381871:V265A;ENSP00000381882:V364A;ENSP00000414150:V388A;ENSP00000381881:V365A;ENSP00000394694:V364A;ENSP00000396268:V289A;ENSP00000381891:V388A	ENSP00000288319:V381A	V	-	2	0	ERG	38677493	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.339000	0.96797	1.949000	0.56562	0.533000	0.62120	GTC		0.592	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918	
PRDM15	63977	broad.mit.edu	37	21	43230571	43230571	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr21:43230571C>T	ENST00000269844.3	-	28	3799	c.3689G>A	c.(3688-3690)tGc>tAc	p.C1230Y	PRDM15_ENST00000422911.1_Missense_Mutation_p.C921Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.C901Y|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_Missense_Mutation_p.C884Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.C864Y	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTTGGTCCCGCACAGCTGGCA	0.652																																						uc002yzq.1																			0					0						c.(3688-3690)TGC>TAC		PR domain containing 15 isoform 1							86.0	58.0	68.0					21																	43230571		2203	4299	6502	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43230571C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3689G>A	21.37:g.43230571C>T	ENSP00000269844:p.Cys1230Tyr					PRDM15_uc002yzo.2_Missense_Mutation_p.C901Y|PRDM15_uc002yzp.2_Missense_Mutation_p.C921Y|PRDM15_uc002yzr.1_Missense_Mutation_p.C921Y	p.C1230Y	NM_022115	NP_071398	P57071	PRD15_HUMAN			28	3800	-			1230			C2H2-type 16.		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.3689G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.116723	0.77323	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.17054	3.13;3.13;3.13;3.13;2.3	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.28532	0.0706	N	0.24115	0.695	0.58432	D	0.999998	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.14090	-1.0485	9	0.87932	D	0	-19.6414	15.3339	0.74234	0.0:1.0:0.0:0.0	.	1230;921;901	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Y	921;901;884;864;1230	ENSP00000408592:C921Y;ENSP00000381556:C901Y;ENSP00000444044:C884Y;ENSP00000390245:C864Y;ENSP00000269844:C1230Y	ENSP00000269844:C1230Y	C	-	2	0	PRDM15	42103640	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.530000	0.81962	1.836000	0.53414	0.306000	0.20318	TGC		0.652	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	
CELSR1	9620	broad.mit.edu	37	22	46931595	46931595	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr22:46931595G>A	ENST00000262738.3	-	1	1472	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	CELSR1_ENST00000395964.1_Silent_p.N491N|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	491	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAATGGCCGCGTTCTGGCCCT	0.632																																						uc003bhw.1																			0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(1471-1473)AAC>AAT		cadherin EGF LAG seven-pass G-type receptor 1							72.0	62.0	66.0					22																	46931595		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931595G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1473C>T	22.37:g.46931595G>A							p.N491N	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1473	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	491			Extracellular (Potential).|Cadherin 3.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.1473C>T	CCDS14076.1																																																																																				0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
ANKRD28	23243	broad.mit.edu	37	3	15778600	15778600	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr3:15778600G>A	ENST00000399451.2	-	5	769	c.402C>T	c.(400-402)aaC>aaT	p.N134N	RN7SL4P_ENST00000584058.1_RNA|ANKRD28_ENST00000383777.1_Silent_p.N167N|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	134						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GATCAGATACGTTTACATTAC	0.428																																						uc003caj.1																			0				breast(1)	1						c.(400-402)AAC>AAT		ankyrin repeat domain 28							161.0	153.0	156.0					3																	15778600		1957	4152	6109	SO:0001819	synonymous_variant	23243					nucleoplasm	protein binding	g.chr3:15778600G>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.402C>T	3.37:g.15778600G>A						ANKRD28_uc003cai.1_Translation_Start_Site|ANKRD28_uc011avz.1_Translation_Start_Site|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Silent_p.N164N|ANKRD28_uc003cam.2_Silent_p.N167N	p.N134N	NM_015199	NP_056014	O15084	ANR28_HUMAN			5	545	-			134			ANK 3.		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Silent	SNP	ENST00000399451.2	37	c.402C>T	CCDS46769.1																																																																																				0.428	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	
BCL6	604	broad.mit.edu	37	3	187443315	187443315	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr3:187443315C>T	ENST00000406870.2	-	8	2177	c.1811G>A	c.(1810-1812)tGc>tAc	p.C604Y	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.C604Y|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.C548Y	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	604					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GCAGGTTTCGCATTTGTAGGG	0.612			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	uc003frp.3				Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(1810-1812)TGC>TAC		B-cell lymphoma 6 protein isoform 1							102.0	106.0	104.0					3																	187443315		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187443315C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1811G>A	3.37:g.187443315C>T	ENSP00000384371:p.Cys604Tyr					BCL6_uc011bsf.1_Missense_Mutation_p.C548Y|BCL6_uc010hza.2_Missense_Mutation_p.C502Y|BCL6_uc003frq.1_Missense_Mutation_p.C604Y	p.C604Y	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	8	2268	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		604			C2H2-type 4.		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.1811G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038398	0.93630	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	D;D;D	0.85088	-1.94;-1.94;-1.94	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.044332	0.85682	D	0.000000	D	0.95194	0.8442	H	0.95982	3.75	0.80722	D	1	D;P	0.76494	0.999;0.801	D;P	0.87578	0.998;0.635	D	0.96407	0.9301	10	0.87932	D	0	.	18.5726	0.91142	0.0:1.0:0.0:0.0	.	548;604	B8PSA7;P41182	.;BCL6_HUMAN	Y	604;604;548	ENSP00000384371:C604Y;ENSP00000232014:C604Y;ENSP00000413122:C548Y	ENSP00000232014:C604Y	C	-	2	0	BCL6	188926009	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.619000	0.88677	0.655000	0.94253	TGC		0.612	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931	
TAPT1	202018	broad.mit.edu	37	4	16204132	16204132	+	Silent	SNP	A	A	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr4:16204132A>G	ENST00000405303.2	-	3	485	c.402T>C	c.(400-402)gtT>gtC	p.V134V	TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000399920.3_Silent_p.V23V	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	134					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GTGCCAGGAAAACTCTTAAAG	0.353																																						uc010ied.1																			0					0						c.(400-402)GTT>GTC		transmembrane anterior posterior transformation							39.0	38.0	38.0					4																	16204132		1843	4044	5887	SO:0001819	synonymous_variant	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16204132A>G	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.402T>C	4.37:g.16204132A>G						TAPT1_uc011bxe.1_Silent_p.V23V|TAPT1_uc003gow.3_Intron	p.V134V	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN			3	483	-			134					Q8N2S3|Q9NZK9	Silent	SNP	ENST00000405303.2	37	c.402T>C	CCDS47030.1																																																																																				0.353	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365	
EGFLAM	133584	broad.mit.edu	37	5	38463973	38463974	+	Frame_Shift_Ins	INS	-	-	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr5:38463973_38463974insT	ENST00000354891.3	+	23	3285_3286	c.2939_2940insT	c.(2938-2943)tatatgfs	p.M981fs	EGFLAM_ENST00000397210.3_Frame_Shift_Ins_p.M116fs|EGFLAM_ENST00000514476.1_Frame_Shift_Ins_p.M116fs|EGFLAM_ENST00000506135.1_Frame_Shift_Ins_p.M116fs|EGFLAM_ENST00000397202.2_Frame_Shift_Ins_p.M339fs|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.M739fs|EGFLAM_ENST00000322350.5_Frame_Shift_Ins_p.M973fs|CTD-2263F21.1_ENST00000510469.1_RNA|CTD-2263F21.1_ENST00000510137.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	981	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AACAGGCAATATATGAGAGGGC	0.52																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			0				pancreas(3)|skin(3)|ovary(1)	7						c.(2938-2940)TATfs		EGF-like, fibronectin type III and laminin G																																				SO:0001589	frameshift_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38463973_38463974insT	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2940dupT	5.37:g.38463974_38463974dupT	ENSP00000346964:p.Met981fs					EGFLAM_uc003jlb.1_Frame_Shift_Ins_p.Y972fs|EGFLAM_uc003jle.1_Frame_Shift_Ins_p.Y738fs|EGFLAM_uc003jlf.1_Frame_Shift_Ins_p.Y338fs|EGFLAM_uc003jlg.1_Frame_Shift_Ins_p.Y115fs|EGFLAM_uc003jlh.1_Frame_Shift_Ins_p.Y62fs	p.Y980fs	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			23	3263_3264	+	all_lung(31;0.000385)		980			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Frame_Shift_Ins	INS	ENST00000354891.3	37	c.2939_2940insT	CCDS56363.1																																																																																				0.520	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
BRD8	10902	broad.mit.edu	37	5	137476545	137476545	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr5:137476545C>T	ENST00000254900.5	-	26	3835	c.3464G>A	c.(3463-3465)aGa>aAa	p.R1155K	NME5_ENST00000265191.2_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1155	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGAGAGATTTCTCTTCAGGCT	0.428																																						uc003lcf.1																			0				ovary(1)	1						c.(3463-3465)AGA>AAA		bromodomain containing 8 isoform 2							220.0	219.0	219.0					5																	137476545		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137476545C>T	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3464G>A	5.37:g.137476545C>T	ENSP00000254900:p.Arg1155Lys					BRD8_uc003lcc.1_Intron|NME5_uc003lce.2_5'Flank	p.R1155K	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		26	3519	-			1155			Bromo 2.		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.3464G>A	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321699	0.23994	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.24908	1.83;1.83	5.96	5.96	0.96718	Bromodomain (5);	0.000000	0.56097	D	0.000032	T	0.08268	0.0206	N	0.01284	-0.91	0.80722	D	1	B	0.16603	0.018	B	0.15052	0.012	T	0.25257	-1.0137	10	0.02654	T	1	-8.5411	12.6808	0.56920	0.0:0.9256:0.0:0.0744	.	1155	Q9H0E9	BRD8_HUMAN	K	1155;261	ENSP00000254900:R1155K;ENSP00000392646:R261K	ENSP00000254900:R1155K	R	-	2	0	BRD8	137504444	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.848000	0.62874	2.832000	0.97577	0.655000	0.94253	AGA		0.428	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696	
WDR46	9277	broad.mit.edu	37	6	33255194	33255194	+	Missense_Mutation	SNP	G	G	A	rs141256696	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr6:33255194G>A	ENST00000374617.4	-	8	1173	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000374607.1_5'Flank|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	273							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TCACAGCGGCGGATACAGTGG	0.572																																						uc003ods.2																			0					0						c.(817-819)CGC>TGC		WD repeat domain 46 isoform 1		G	CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	95.0	90.0	92.0		655,817	4.4	1.0	6	dbSNP_134	92	0,8600		0,0,4300	no	missense,missense	WDR46	NM_001164267.1,NM_005452.5	180,180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	219/557,273/611	33255194	4,13002	2203	4300	6503	SO:0001583	missense	9277							g.chr6:33255194G>A	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.817C>T	6.37:g.33255194G>A	ENSP00000363746:p.Arg273Cys					WDR46_uc011dra.1_Missense_Mutation_p.R219C|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank	p.R273C	NM_005452	NP_005443	O15213	WDR46_HUMAN			8	861	-			273					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.817C>T	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332534	0.60853	9.08E-4	0.0	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.18502	4.94;2.21	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.124663	0.50627	D	0.000118	T	0.23210	0.0561	L	0.54323	1.7	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.69654	0.964;0.965	T	0.00888	-1.1526	10	0.87932	D	0	-16.3035	9.7563	0.40504	0.0:0.0:0.7942:0.2058	.	219;273	B4DP15;O15213	.;WDR46_HUMAN	C	273;200	ENSP00000363746:R273C;ENSP00000405568:R200C	ENSP00000363746:R273C	R	-	1	0	WDR46	33363172	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	3.728000	0.54991	2.278000	0.76064	0.549000	0.68633	CGC		0.572	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452	
MACC1	346389	broad.mit.edu	37	7	20199676	20199676	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:20199676A>G	ENST00000400331.5	-	5	616	c.308T>C	c.(307-309)tTc>tCc	p.F103S	MACC1_ENST00000332878.4_Missense_Mutation_p.F103S|MACC1_ENST00000589011.1_Missense_Mutation_p.F103S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	103					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTCTCTACAGAAAAGAAAAGG	0.348																																						uc003sus.3																			0				ovary(2)|skin(1)	3						c.(307-309)TTC>TCC		putative binding protein 7a5							38.0	39.0	39.0					7																	20199676		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20199676A>G		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.308T>C	7.37:g.20199676A>G	ENSP00000383185:p.Phe103Ser					MACC1_uc010kug.2_Missense_Mutation_p.F103S	p.F103S	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	617	-			103					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.308T>C	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	A	3.748	-0.052221	0.07362	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.09723	2.95;2.95	5.97	5.97	0.96955	.	0.164918	0.56097	D	0.000037	T	0.18593	0.0446	L	0.52364	1.645	0.31125	N	0.708445	D	0.60160	0.987	P	0.53912	0.737	T	0.05131	-1.0904	10	0.08179	T	0.78	-21.8893	16.4534	0.84003	1.0:0.0:0.0:0.0	.	103	Q6ZN28	MACC1_HUMAN	S	103	ENSP00000383185:F103S;ENSP00000328410:F103S	ENSP00000328410:F103S	F	-	2	0	MACC1	20166201	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	3.926000	0.56491	2.285000	0.76669	0.477000	0.44152	TTC		0.348	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
ABCB5	340273	broad.mit.edu	37	7	20767947	20767947	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:20767947G>A	ENST00000404938.2	+	23	3388	c.2736G>A	c.(2734-2736)tcG>tcA	p.S912S	ABCB5_ENST00000258738.6_Silent_p.S467S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	912	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAAATACCTCGAAGAAAGCAC	0.353																																						uc003suw.3																			0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(1399-1401)TCG>TCA		ATP-binding cassette, sub-family B, member 5							134.0	140.0	138.0					7																	20767947		2203	4300	6503	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20767947G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2736G>A	7.37:g.20767947G>A						ABCB5_uc010kuh.2_Silent_p.S912S|ABCB5_uc003sux.1_Silent_p.S90S	p.S467S	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			14	1947	+			467			Cytoplasmic (Potential).|ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.1401G>A	CCDS55090.1																																																																																				0.353	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
OR6V1	346517	broad.mit.edu	37	7	142750291	142750291	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:142750291C>T	ENST00000418316.1	+	1	875	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTTCTCAATCCCTTTATCCTT	0.507																																						uc011ksv.1																			0				ovary(1)	1						c.(853-855)CCC>CTC		olfactory receptor, family 6, subfamily V,							74.0	78.0	77.0					7																	142750291		1968	4142	6110	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142750291C>T		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.854C>T	7.37:g.142750291C>T	ENSP00000396085:p.Pro285Leu						p.P285L	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	854	+	Melanoma(164;0.059)		285			Helical; Name=7; (Potential).		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.854C>T	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492647	0.64074	.	.	ENSG00000225781	ENST00000418316	T	0.63417	-0.04	4.72	1.84	0.25277	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.55721	0.1938	N	0.08118	0	0.41965	D	0.990729	D	0.89917	1.0	D	0.97110	1.0	T	0.57225	-0.7848	9	0.87932	D	0	.	5.3682	0.16125	0.1621:0.6583:0.0:0.1795	.	285	Q8N148	OR6V1_HUMAN	L	285	ENSP00000396085:P285L	ENSP00000396085:P285L	P	+	2	0	OR6V1	142460413	0.744000	0.28250	0.042000	0.18584	0.979000	0.70002	2.394000	0.44450	0.196000	0.20367	0.655000	0.94253	CCC		0.507	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1		
DOCK8	81704	broad.mit.edu	37	9	426982	426982	+	Splice_Site	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:426982G>T	ENST00000453981.1	+	34	4450		c.e34+1		DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000382329.1_Splice_Site|DOCK8_ENST00000432829.2_Splice_Site			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CATTATCCAGGTGAGGAAAAC	0.383																																						uc003zgf.2																			0				ovary(3)|central_nervous_system(3)	6						c.e34+1		dedicator of cytokinesis 8							58.0	52.0	54.0					9																	426982		2203	4300	6503	SO:0001630	splice_region_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:426982G>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4338+1G>T	9.37:g.426982G>T						DOCK8_uc010mgu.2_Splice_Site_p.Q748_splice|DOCK8_uc010mgv.2_Splice_Site_p.Q1346_splice|DOCK8_uc003zgk.2_Splice_Site_p.Q904_splice	p.Q1446_splice	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	34	4450	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)						A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Splice_Site	SNP	ENST00000453981.1	37	c.4338_splice	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693635	0.88735	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.051	0.97627	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK8	416982	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.756000	0.98918	2.740000	0.93945	0.650000	0.86243	.		0.383	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	Intron
RGS3	5998	broad.mit.edu	37	9	116259676	116259677	+	Frame_Shift_Ins	INS	-	-	GCTGAGAG			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:116259676_116259677insGCTGAGAG	ENST00000374140.2	+	10	1042_1043	c.833_834insGCTGAGAG	c.(832-837)ccgctgfs	p.-279fs	RGS3_ENST00000317613.6_Frame_Shift_Ins_p.-167fs|RGS3_ENST00000350696.5_Frame_Shift_Ins_p.-279fs	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CGACTGCGGCCGCTGAGAGGTA	0.619																																						uc004bhq.2																			0				ovary(1)|lung(1)|skin(1)	3						c.(832-834)CCGfs		regulator of G-protein signalling 3 isoform 6																																				SO:0001589	frameshift_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116259676_116259677insGCTGAGAG	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.834_841dupGCTGAGAG	9.37:g.116259677_116259684dupGCTGAGAG	ENSP00000363255:p.Leu279fs					RGS3_uc004bhr.2_Frame_Shift_Ins_p.P166fs|RGS3_uc004bhs.2_Frame_Shift_Ins_p.P168fs	p.P278fs	NM_144488	NP_652759	P49796	RGS3_HUMAN			10	1042_1043	+			278					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Frame_Shift_Ins	INS	ENST00000374140.2	37	c.833_834insGCTGAGAG	CCDS43869.1																																																																																				0.619	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	
VAV2	7410	broad.mit.edu	37	9	136656960	136656960	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:136656960C>T	ENST00000371850.3	-	13	1164	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q	VAV2_ENST00000371851.1_Missense_Mutation_p.R373Q|VAV2_ENST00000406606.3_Missense_Mutation_p.R373Q	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	378					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTCCTTGTCCCGTTTAACTTC	0.488																																						uc004ces.2																			0				central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(1132-1134)CGG>CAG		vav 2 guanine nucleotide exchange factor isoform							165.0	154.0	158.0					9																	136656960		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136656960C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1133G>A	9.37:g.136656960C>T	ENSP00000360916:p.Arg378Gln					VAV2_uc004cer.2_Missense_Mutation_p.R373Q|VAV2_uc004cet.1_5'Flank	p.R378Q	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	13	1179	-			378					A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.1133G>A	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677189	0.88445	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.71341	-0.56;-0.56;-0.56	4.0	4.0	0.46444	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.999;0.981	B;B	0.43194	0.411;0.177	T	0.81120	-0.1077	10	0.87932	D	0	.	16.4582	0.84029	0.0:1.0:0.0:0.0	.	378;373	P52735;P52735-3	VAV2_HUMAN;.	Q	378;373;373;373	ENSP00000360916:R378Q;ENSP00000360917:R373Q;ENSP00000385362:R373Q	ENSP00000317258:R373Q	R	-	2	0	VAV2	135646781	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.587000	0.82613	1.927000	0.55829	0.549000	0.68633	CGG		0.488	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1		
FAM47C	442444	broad.mit.edu	37	X	37028050	37028050	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:37028050C>T	ENST00000358047.3	+	1	1619	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	523										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCCATCTCCGCCCAGAGCC	0.612																																						uc004ddl.1																			0				ovary(3)	3						c.(1567-1569)CGC>TGC		hypothetical protein LOC442444							86.0	84.0	85.0					X																	37028050		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028050C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1567C>T	X.37:g.37028050C>T	ENSP00000367913:p.Arg523Cys						p.R523C	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1581	+			523					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1567C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	9.801	1.180448	0.21787	.	.	ENSG00000198173	ENST00000358047	T	0.21543	2.0	0.993	0.993	0.19825	.	.	.	.	.	T	0.12902	0.0313	L	0.29908	0.895	0.09310	N	1	D	0.67145	0.996	B	0.39299	0.296	T	0.17992	-1.0351	9	0.48119	T	0.1	.	7.5332	0.27695	0.0:0.9999:0.0:1.0E-4	.	523	Q5HY64	FA47C_HUMAN	C	523	ENSP00000367913:R523C	ENSP00000367913:R523C	R	+	1	0	FAM47C	36937971	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-1.737000	0.01843	0.764000	0.33197	0.413000	0.27773	CGC		0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
PCDH11X	27328	broad.mit.edu	37	X	91090711	91090711	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:91090711G>A	ENST00000373094.1	+	1	1053	c.208G>A	c.(208-210)Gga>Aga	p.G70R	PCDH11X_ENST00000406881.1_Missense_Mutation_p.G70R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G70R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G70R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G70R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G70R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G70R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G70R|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G70R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	70	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTACAAGACCGGAGATGTGCC	0.458																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			0				large_intestine(2)	2						c.(208-210)GGA>AGA		protocadherin 11 X-linked isoform c							171.0	140.0	151.0					X																	91090711		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090711G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.208G>A	X.37:g.91090711G>A	ENSP00000362186:p.Gly70Arg					PCDH11X_uc004efl.1_Missense_Mutation_p.G70R|PCDH11X_uc004efo.1_Missense_Mutation_p.G70R|PCDH11X_uc010nmv.1_Missense_Mutation_p.G70R|PCDH11X_uc004efm.1_Missense_Mutation_p.G70R|PCDH11X_uc004efn.1_Missense_Mutation_p.G70R|PCDH11X_uc004efh.1_Missense_Mutation_p.G70R|PCDH11X_uc004efj.1_Missense_Mutation_p.G70R	p.G70R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	1053	+			70			Extracellular (Potential).|Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.208G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692304	0.48202	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	4.06	4.06	0.47325	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	L	0.53249	1.67	0.58432	D	0.999993	D;P;D;D;D;D;D;D	0.76494	0.986;0.713;0.998;0.998;0.998;0.999;0.986;0.986	P;B;P;P;P;D;P;P	0.63793	0.778;0.211;0.867;0.867;0.867;0.918;0.668;0.668	T	0.51911	-0.8645	10	0.72032	D	0.01	.	14.7015	0.69160	0.0:0.0:1.0:0.0	.	70;70;70;70;70;70;70;70	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	R	70	ENSP00000378746:G70R;ENSP00000362186:G70R;ENSP00000362189:G70R;ENSP00000355040:G70R;ENSP00000362180:G70R;ENSP00000423762:G70R;ENSP00000355105:G70R;ENSP00000384758:G70R;ENSP00000298274:G70R	ENSP00000298274:G70R	G	+	1	0	PCDH11X	90977367	1.000000	0.71417	0.388000	0.26195	0.060000	0.15804	6.976000	0.76135	1.993000	0.58246	0.506000	0.49869	GGA		0.458	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
VSIG1	340547	broad.mit.edu	37	X	107301373	107301373	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:107301373G>A	ENST00000217957.5	+	2	272	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	VSIG1_ENST00000415430.3_Missense_Mutation_p.R52Q	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	52	Ig-like V-type 1.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GTGGCCTCCCGAGAACAGCTT	0.468																																						uc004eno.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(154-156)CGA>CAA		V-set and immunoglobulin domain containing 1							177.0	130.0	146.0					X																	107301373		2203	4300	6503	SO:0001583	missense	340547					integral to membrane		g.chrX:107301373G>A	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.155G>A	X.37:g.107301373G>A	ENSP00000217957:p.Arg52Gln					VSIG1_uc011msk.1_Missense_Mutation_p.R52Q	p.R52Q	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN			2	316	+			52			Extracellular (Potential).|Ig-like V-type 1.		C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	c.155G>A	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	4.745	0.138488	0.09083	.	.	ENSG00000101842	ENST00000415430;ENST00000217957;ENST00000458383	T;T;T	0.63913	-0.07;-0.07;-0.07	5.0	-7.1	0.01547	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.112520	0.02453	N	0.085813	T	0.37128	0.0992	N	0.25647	0.755	0.09310	N	1	B;B	0.31599	0.33;0.185	B;B	0.21546	0.035;0.025	T	0.28170	-1.0052	10	0.11794	T	0.64	.	3.8448	0.08930	0.1676:0.0922:0.1382:0.602	.	52;52	C9J4P2;Q86XK7	.;VSIG1_HUMAN	Q	52	ENSP00000402219:R52Q;ENSP00000217957:R52Q;ENSP00000407102:R52Q	ENSP00000217957:R52Q	R	+	2	0	VSIG1	107188029	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.803000	0.04540	-1.903000	0.01093	-0.318000	0.08688	CGA		0.468	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607	
