#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
FLG2	388698	broad.mit.edu	37	1	152326384	152326384	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr1:152326384T>C	ENST00000388718.5	-	3	3950	c.3878A>G	c.(3877-3879)cAc>cGc	p.H1293R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1293					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTTGTGTGTGAATGTGTTC	0.473																																						uc001ezw.3																			0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(3877-3879)CAC>CGC		filaggrin family member 2							454.0	402.0	420.0					1																	152326384		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326384T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3878A>G	1.37:g.152326384T>C	ENSP00000373370:p.His1293Arg					uc001ezv.2_Intron	p.H1293R	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3951	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1293					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3878A>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.276525	0.23307	.	.	ENSG00000143520	ENST00000388718	T	0.37752	1.18	2.86	1.62	0.23740	.	.	.	.	.	T	0.07954	0.0199	L	0.41824	1.3	0.09310	N	1	B	0.29253	0.239	B	0.23275	0.045	T	0.35276	-0.9795	9	0.13470	T	0.59	-3.214	5.0465	0.14487	0.2649:0.0:0.0:0.7351	.	1293	Q5D862	FILA2_HUMAN	R	1293	ENSP00000373370:H1293R	ENSP00000373370:H1293R	H	-	2	0	FLG2	150593008	0.014000	0.17966	0.001000	0.08648	0.300000	0.27592	1.030000	0.30153	0.279000	0.22186	0.165000	0.16767	CAC		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
HHIPL2	79802	broad.mit.edu	37	1	222717002	222717002	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr1:222717002C>T	ENST00000343410.6	-	2	909	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	284					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.R284H(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCGATTGTGGCGGAATTTGGG	0.483																																						uc001hnh.1																			1	Substitution - Missense(1)		prostate(1)	ovary(1)	1						c.(850-852)CGC>CAC		HHIP-like 2 precursor							120.0	135.0	130.0					1																	222717002		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717002C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.851G>A	1.37:g.222717002C>T	ENSP00000342118:p.Arg284His						p.R284H	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	909	-			284					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.851G>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747312	0.30955	.	.	ENSG00000143512	ENST00000343410	T	0.14266	2.52	5.2	-1.55	0.08558	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.575798	0.17518	N	0.171343	T	0.10809	0.0264	L	0.49778	1.585	0.19300	N	0.999978	B	0.28419	0.211	B	0.24848	0.056	T	0.16837	-1.0389	10	0.48119	T	0.1	-7.1715	7.303	0.26432	0.0:0.3416:0.1196:0.5388	.	284	Q6UWX4	HIPL2_HUMAN	H	284	ENSP00000342118:R284H	ENSP00000342118:R284H	R	-	2	0	HHIPL2	220783625	0.001000	0.12720	0.142000	0.22268	0.981000	0.71138	-0.127000	0.10547	-0.306000	0.08818	-0.373000	0.07131	CGC		0.483	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	
FEZ1	9638	broad.mit.edu	37	11	125359436	125359436	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr11:125359436T>G	ENST00000278919.3	-	2	472	c.238A>C	c.(238-240)Aag>Cag	p.K80Q	FEZ1_ENST00000366139.3_Missense_Mutation_p.K80Q|FEZ1_ENST00000524435.1_Missense_Mutation_p.K80Q	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	80					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TTCTCGGTCTTGGCGTTGTAG	0.463																																					Melanoma(180;509 2033 10762 15939 24711)	uc001qbx.2																			0				central_nervous_system(3)|ovary(1)	4						c.(238-240)AAG>CAG		zygin 1 isoform 1							133.0	130.0	131.0					11																	125359436		2201	4299	6500	SO:0001583	missense	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359436T>G	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.238A>C	11.37:g.125359436T>G	ENSP00000278919:p.Lys80Gln					FEZ1_uc010sbc.1_Missense_Mutation_p.K80Q|FEZ1_uc001qby.1_Missense_Mutation_p.K80Q	p.K80Q	NM_005103	NP_005094	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	2	390	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	80					O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	c.238A>C	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.136773	0.77662	.	.	ENSG00000149557	ENST00000278919;ENST00000529053;ENST00000366139;ENST00000524435	T;T;T	0.31769	1.48;1.48;1.48	5.37	5.37	0.77165	.	0.049426	0.85682	D	0.000000	T	0.50360	0.1611	L	0.58101	1.795	0.58432	D	0.999992	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.958	T	0.42632	-0.9440	10	0.33141	T	0.24	-29.1501	15.0399	0.71781	0.0:0.0:0.0:1.0	.	80;80	B4DKG5;Q99689	.;FEZ1_HUMAN	Q	80	ENSP00000278919:K80Q;ENSP00000393425:K80Q;ENSP00000431521:K80Q	ENSP00000278919:K80Q	K	-	1	0	FEZ1	124864646	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.294000	0.51787	2.043000	0.60533	0.528000	0.53228	AAG		0.463	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103	
VWF	7450	broad.mit.edu	37	12	6128780	6128780	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:6128780G>A	ENST00000261405.5	-	28	4058	c.3804C>T	c.(3802-3804)caC>caT	p.H1268H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1268			H -> D (in VWD2). {ECO:0000269|PubMed:8376405}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGTAGAAATCGTGCAACGGCG	0.617																																						uc001qnn.1																			0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(3802-3804)CAC>CAT		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						64.0	63.0	63.0					12																	6128780		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128780G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3804C>T	12.37:g.6128780G>A						VWF_uc010set.1_Intron	p.H1268H	NM_000552	NP_000543	P04275	VWF_HUMAN			28	4054	-			1268		H -> D (in VWD2).			Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.3804C>T	CCDS8539.1																																																																																				0.617	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
MON2	23041	broad.mit.edu	37	12	62954286	62954286	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:62954286C>T	ENST00000393632.2	+	26	3816	c.3425C>T	c.(3424-3426)gCt>gTt	p.A1142V	MON2_ENST00000393630.3_Missense_Mutation_p.A1143V|MON2_ENST00000393629.2_Missense_Mutation_p.A1142V|MON2_ENST00000280379.6_Missense_Mutation_p.A1143V|MON2_ENST00000546600.1_Missense_Mutation_p.A1142V|MON2_ENST00000552738.1_Missense_Mutation_p.A1119V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1142					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTTCAAGAGCTTGGGATGTT	0.338																																						uc001sre.2																			0				central_nervous_system(2)	2						c.(3424-3426)GCT>GTT		MON2 homolog							65.0	72.0	70.0					12																	62954286		2203	4298	6501	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62954286C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3425C>T	12.37:g.62954286C>T	ENSP00000377252:p.Ala1142Val					MON2_uc009zqj.2_Missense_Mutation_p.A1142V|MON2_uc010ssl.1_Missense_Mutation_p.A1070V|MON2_uc010ssm.1_Missense_Mutation_p.A1119V|MON2_uc010ssn.1_Missense_Mutation_p.A1142V|MON2_uc001srf.2_Missense_Mutation_p.A905V|MON2_uc001srg.2_Missense_Mutation_p.A17V	p.A1142V	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	26	3816	+			1143					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.3425C>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268253	0.80469	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.76814	0.4040	L	0.59436	1.845	0.80722	D	1	P;P;P;D;D	0.89917	0.908;0.849;0.845;1.0;0.982	P;P;P;D;P	0.79108	0.642;0.555;0.756;0.992;0.853	T	0.74839	-0.3528	9	.	.	.	-13.7571	19.2945	0.94117	0.0:1.0:0.0:0.0	.	1142;1119;1142;17;1142	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	V	1142;1143;1143;1142;1119;1142	ENSP00000377252:A1142V;ENSP00000377250:A1143V;ENSP00000280379:A1143V;ENSP00000447407:A1142V;ENSP00000449215:A1119V;ENSP00000377249:A1142V	.	A	+	2	0	MON2	61240553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.643000	0.89663	0.650000	0.86243	GCT		0.338	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
WSCD2	9671	broad.mit.edu	37	12	108589646	108589646	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:108589646C>T	ENST00000332082.4	+	3	855	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	WSCD2_ENST00000549903.1_Missense_Mutation_p.R13C|WSCD2_ENST00000261400.3_Missense_Mutation_p.R13C|WSCD2_ENST00000547525.1_Missense_Mutation_p.R13C			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	13						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCGGTACTTCCGCCGGAAACC	0.587																																						uc001tms.2																			0				ovary(1)|large_intestine(1)|breast(1)	3						c.(37-39)CGC>TGC		WSC domain containing 2							63.0	67.0	66.0					12																	108589646		1979	4157	6136	SO:0001583	missense	9671					integral to membrane		g.chr12:108589646C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.37C>T	12.37:g.108589646C>T	ENSP00000331933:p.Arg13Cys					WSCD2_uc001tmt.2_Missense_Mutation_p.R13C	p.R13C	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			2	781	+			13					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.37C>T	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244971	0.95272	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.41758	1.03;0.99;1.03;0.99	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.67707	-0.5601	10	0.87932	D	0	-47.3794	18.8897	0.92395	0.0:1.0:0.0:0.0	.	13	Q2TBF2	WSCD2_HUMAN	C	13	ENSP00000448047:R13C;ENSP00000261400:R13C;ENSP00000331933:R13C;ENSP00000447272:R13C	ENSP00000261400:R13C	R	+	1	0	WSCD2	107113776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.546000	0.60705	2.704000	0.92352	0.655000	0.94253	CGC		0.587	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
TCHP	84260	broad.mit.edu	37	12	110352296	110352296	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:110352296G>A	ENST00000312777.5	+	11	1398	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	TCHP_ENST00000405876.4_Missense_Mutation_p.R395Q	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GAGCAGAACCGACGGGCACAA	0.483																																						uc001tpn.2																			0				skin(1)	1						c.(1183-1185)CGA>CAA		trichoplein							99.0	96.0	97.0					12																	110352296		2203	4300	6503	SO:0001583	missense	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110352296G>A	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1184G>A	12.37:g.110352296G>A	ENSP00000324404:p.Arg395Gln					TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.R395Q	p.R395Q	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN			11	1337	+			395			Trichohyalin/plectin homology domain.|Glu-rich.|Potential.|Interaction with keratin proteins.			Missense_Mutation	SNP	ENST00000312777.5	37	c.1184G>A	CCDS9137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.230455|4.230455	0.79688|0.79688	.|.	.|.	ENSG00000139437|ENSG00000139437	ENST00000536868|ENST00000405876;ENST00000312777;ENST00000551627	.|T;T	.|0.07688	.|3.17;3.17	5.3|5.3	4.4|4.4	0.53042|0.53042	.|.	.|0.139185	.|0.45361	.|D	.|0.000372	T|T	0.10508|0.10508	0.0257|0.0257	L|L	0.52126|0.52126	1.63|1.63	0.37204|0.37204	D|D	0.90449|0.90449	.|D	.|0.55172	.|0.97	.|P	.|0.49853	.|0.624	T|T	0.32719|0.32719	-0.9896|-0.9896	6|10	0.48119|0.13108	T|T	0.1|0.6	-9.1728|-9.1728	6.8291|6.8291	0.23900|0.23900	0.0882:0.0:0.7349:0.1769|0.0882:0.0:0.7349:0.1769	.|.	.|395	.|Q9BT92	.|TCHP_HUMAN	N|Q	214|395;395;39	.|ENSP00000384520:R395Q;ENSP00000324404:R395Q	ENSP00000442282:D214N|ENSP00000324404:R395Q	D|R	+|+	1|2	0|0	TCHP|TCHP	108836679|108836679	1.000000|1.000000	0.71417|0.71417	0.925000|0.925000	0.36789|0.36789	0.972000|0.972000	0.66771|0.66771	6.287000|6.287000	0.72671|0.72671	1.230000|1.230000	0.43646|0.43646	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.483	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300	
CLIP1	6249	broad.mit.edu	37	12	122825886	122825886	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:122825886A>T	ENST00000540338.1	-	10	1906	c.1865T>A	c.(1864-1866)cTa>cAa	p.L622Q	CLIP1_ENST00000361654.4_Missense_Mutation_p.L576Q|CLIP1_ENST00000545889.1_Missense_Mutation_p.L312Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.L576Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.L611Q|CLIP1_ENST00000358808.2_Missense_Mutation_p.L611Q			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	622					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGACTTCCATAGAGCTATCAC	0.488																																						uc001ucg.1																			0				ovary(2)|breast(1)	3						c.(1864-1866)CTA>CAA		restin isoform a							140.0	127.0	131.0					12																	122825886		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825886A>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1865T>A	12.37:g.122825886A>T	ENSP00000439093:p.Leu622Gln					CLIP1_uc001uch.1_Missense_Mutation_p.L611Q|CLIP1_uc001uci.1_Missense_Mutation_p.L576Q|CLIP1_uc001ucj.1_Missense_Mutation_p.L312Q|CLIP1_uc009zxo.1_Missense_Mutation_p.L178Q	p.L622Q	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	1971	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		622			Potential.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1865T>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760189	0.49468	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.60920	2.71;0.73;0.73;0.65;0.7;0.15	5.5	5.5	0.81552	.	0.081374	0.52532	D	0.000066	T	0.69278	0.3093	L	0.47716	1.5	0.46011	D	0.998817	P;D;D;P	0.76494	0.865;0.999;0.999;0.879	B;D;D;P	0.78314	0.421;0.991;0.991;0.566	T	0.66400	-0.5933	10	0.31617	T	0.26	-9.9037	15.9091	0.79456	1.0:0.0:0.0:0.0	.	312;576;611;622	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	Q	312;611;611;456;576;622;545	ENSP00000438743:L312Q;ENSP00000303585:L611Q;ENSP00000351665:L611Q;ENSP00000445531:L576Q;ENSP00000439093:L622Q;ENSP00000437786:L545Q	ENSP00000303585:L611Q	L	-	2	0	CLIP1	121391839	1.000000	0.71417	0.871000	0.34182	0.978000	0.69477	5.773000	0.68898	2.209000	0.71365	0.533000	0.62120	CTA		0.488	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
OR11H12	440153	broad.mit.edu	37	14	19378054	19378054	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr14:19378054A>C	ENST00000550708.1	+	1	533	c.461A>C	c.(460-462)cAt>cCt	p.H154P		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	154						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)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGACTGGGCATCTCTGTGCC	0.478																																						uc010tkp.1																			0				ovary(2)	2						c.(460-462)CAT>CCT		olfactory receptor, family 11, subfamily H,							135.0	145.0	141.0					14																	19378054		2201	4295	6496	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378054A>C		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.461A>C	14.37:g.19378054A>C	ENSP00000449002:p.His154Pro						p.H154P	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	461	+	all_cancers(95;0.00108)		154			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000550708.1	37	c.461A>C	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	a	1.637	-0.517562	0.04171	.	.	ENSG00000257115	ENST00000550708	T	0.37058	1.22	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	1.250020	0.05952	N	0.638954	T	0.23766	0.0575	N	0.20685	0.6	0.25105	N	0.99076	B	0.13594	0.008	B	0.16722	0.016	T	0.31779	-0.9931	9	0.49607	T	0.09	.	5.5303	0.16980	0.9999:0.0:1.0E-4:0.0	.	154	B2RN74	O11HC_HUMAN	P	154	ENSP00000449002:H154P	ENSP00000449002:H154P	H	+	2	0	CR383656.1	18448054	0.000000	0.05858	0.840000	0.33206	0.194000	0.23727	-0.719000	0.04974	0.518000	0.28383	0.055000	0.15244	CAT		0.478	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354	
TMCO5A	145942	broad.mit.edu	37	15	38228595	38228595	+	Missense_Mutation	SNP	C	C	T	rs138045481		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr15:38228595C>T	ENST00000319669.4	+	2	173	c.71C>T	c.(70-72)aCg>aTg	p.T24M	TMCO5A_ENST00000558158.1_Missense_Mutation_p.T24M|TMCO5A_ENST00000559502.1_Missense_Mutation_p.T24M|TMCO5A_ENST00000540944.1_Missense_Mutation_p.T24M	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	24						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GAAAGGGATACGCAGAGAATA	0.398																																						uc001zjw.2																			0				central_nervous_system(1)	1						c.(70-72)ACG>ATG		transmembrane and coiled-coil domains 5A		T	MET/THR	0,4400		0,0,2200	113.0	112.0	113.0		71	5.4	1.0	15	dbSNP_134	113	1,8593	818.4+/-406.9	0,1,4296	no	missense	TMCO5A	NM_152453.2	81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	24/289	38228595	1,12993	2200	4297	6497	SO:0001583	missense	145942					integral to membrane		g.chr15:38228595C>T	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.71C>T	15.37:g.38228595C>T	ENSP00000327234:p.Thr24Met					TMCO5A_uc001zjv.1_Missense_Mutation_p.T24M|TMCO5A_uc010bbc.1_Missense_Mutation_p.T24M	p.T24M	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN			2	174	+			24			Potential.		Q8NA63	Missense_Mutation	SNP	ENST00000319669.4	37	c.71C>T	CCDS10046.1	.	.	.	.	.	.	.	.	.	.	T	6.471	0.454997	0.12283	0.0	1.16E-4	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	5.4	5.4	0.78164	.	0.159931	0.45606	N	0.000357	T	0.05686	0.0149	N	0.00099	-2.14	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32188	-0.9916	9	0.06236	T	0.91	-7.626	8.0948	0.30822	0.0:0.0892:0.0:0.9108	.	24;24	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	M	24	.	ENSP00000327234:T24M	T	+	2	0	TMCO5A	36015887	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	2.074000	0.41529	1.074000	0.40909	-0.361000	0.07541	ACG		0.398	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453	
USP8	9101	broad.mit.edu	37	15	50788098	50788098	+	Silent	SNP	T	T	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr15:50788098T>C	ENST00000396444.3	+	17	3050	c.2712T>C	c.(2710-2712)ttT>ttC	p.F904F	RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000425032.3_Silent_p.F798F|USP8_ENST00000433963.1_Silent_p.F904F|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Silent_p.F904F	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	904	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCGATGACTTTAAAGCTGCAG	0.348																																						uc001zym.3																			0				lung(1)|central_nervous_system(1)	2						c.(2710-2712)TTT>TTC		ubiquitin specific peptidase 8							43.0	39.0	40.0					15																	50788098		2196	4284	6480	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50788098T>C	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2712T>C	15.37:g.50788098T>C						USP8_uc001zyl.3_Silent_p.F904F|USP8_uc001zyn.3_Silent_p.F904F|USP8_uc010ufh.1_Silent_p.F798F|uc001zyo.1_5'Flank|USP8_uc001zyp.3_Silent_p.F71F	p.F904F	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	18	3212	+			904					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.2712T>C	CCDS10137.1																																																																																				0.348	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154	
ADCY9	115	broad.mit.edu	37	16	4016798	4016798	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:4016798C>T	ENST00000294016.3	-	11	3578	c.3040G>A	c.(3040-3042)Gcg>Acg	p.A1014T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1014					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAAGATCCGCTTCCACGTCT	0.567																																						uc002cvx.2																			0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3040-3042)GCG>ACG		adenylate cyclase 9							133.0	119.0	123.0					16																	4016798		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016798C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3040G>A	16.37:g.4016798C>T	ENSP00000294016:p.Ala1014Thr						p.A1014T	NM_001116	NP_001107	O60503	ADCY9_HUMAN			11	3579	-			1014			Cytoplasmic (Potential).		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3040G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913142	0.92178	.	.	ENSG00000162104	ENST00000294016	D	0.86497	-2.13	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.93539	0.7938	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93300	0.6676	10	0.59425	D	0.04	.	19.8013	0.96509	0.0:1.0:0.0:0.0	.	1014	O60503	ADCY9_HUMAN	T	1014	ENSP00000294016:A1014T	ENSP00000294016:A1014T	A	-	1	0	ADCY9	3956799	1.000000	0.71417	0.905000	0.35620	0.897000	0.52465	7.776000	0.85560	2.761000	0.94854	0.591000	0.81541	GCG		0.567	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
CRYM	1428	broad.mit.edu	37	16	21273454	21273454	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:21273454C>A	ENST00000219599.3	-	8	964	c.699G>T	c.(697-699)tgG>tgT	p.W233C	CRYM_ENST00000543948.1_Missense_Mutation_p.W233C|CRYM_ENST00000415987.2_Missense_Mutation_p.W191C|CRYM_ENST00000396023.2_Missense_Mutation_p.W233C	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	233					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		CCAGTTCTCTCCAGTCAGGTC	0.532																																						uc002dik.2																			0					0						c.(697-699)TGG>TGT		crystallin, mu isoform 1	Levothyroxine(DB00451)						86.0	67.0	73.0					16																	21273454		2199	4300	6499	SO:0001583	missense	1428				negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity	g.chr16:21273454C>A		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.699G>T	16.37:g.21273454C>A	ENSP00000219599:p.Trp233Cys					CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.W191C|CRYM_uc002dim.2_Missense_Mutation_p.W233C	p.W233C	NM_001888	NP_001879	Q14894	CRYM_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	6	784	-			233					D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	c.699G>T	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258530	0.80246	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.56	5.56	0.83823	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89262	0.6665	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88279	0.2935	10	0.36615	T	0.2	-18.1	18.4906	0.90846	0.0:1.0:0.0:0.0	.	233	Q14894	CRYM_HUMAN	C	233;233;233;191	ENSP00000440227:W233C;ENSP00000219599:W233C;ENSP00000379341:W233C;ENSP00000390928:W191C	ENSP00000219599:W233C	W	-	3	0	CRYM	21180955	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.257000	0.78362	2.610000	0.88304	0.655000	0.94253	TGG		0.532	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1		
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-	rs202017154		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532																																						uc002dxr.2																			0				ovary(1)	1						c.(169-174)GATGGG>GGG		CD2 antigen (cytoplasmic tail) binding protein																																				SO:0001651	inframe_deletion	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365550_30365552delCAT	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.170_172delATG	16.37:g.30365559_30365561delCAT	ENSP00000304903:p.Asp57del					CD2BP2_uc002dxs.2_In_Frame_Del_p.D57del	p.D57del	NM_006110	NP_006101	O95400	CD2B2_HUMAN			2	423_425	-			57					B2RDX2|Q9ULP2	In_Frame_Del	DEL	ENST00000305596.3	37	c.170_172delATG	CCDS10675.1																																																																																				0.532	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110	
PRSS36	146547	broad.mit.edu	37	16	31151619	31151619	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:31151619C>A	ENST00000268281.4	-	14	2343	c.2285G>T	c.(2284-2286)tGt>tTt	p.C762F	PRSS36_ENST00000569305.1_Missense_Mutation_p.C757F|PRSS36_ENST00000418068.2_Intron	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	762	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CTGTACCTCACACCTGTTCTC	0.527																																						uc002ebd.2																			0				ovary(1)	1						c.(2284-2286)TGT>TTT		protease, serine, 36 precursor							56.0	54.0	55.0					16																	31151619		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31151619C>A	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2285G>T	16.37:g.31151619C>A	ENSP00000268281:p.Cys762Phe					PRSS36_uc010vff.1_Missense_Mutation_p.C537F|PRSS36_uc010vfg.1_Missense_Mutation_p.C757F|PRSS36_uc010vfh.1_Intron	p.C762F	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			14	2344	-			762			Peptidase S1 3.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.2285G>T	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112650	0.56398	.	.	ENSG00000178226	ENST00000268281	T	0.70282	-0.47	4.92	3.84	0.44239	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.82788	0.5113	M	0.90705	3.14	0.29744	N	0.836869	D;D	0.60575	0.988;0.988	P;P	0.58520	0.84;0.84	T	0.79052	-0.1961	9	0.87932	D	0	.	9.2134	0.37333	0.2707:0.7293:0.0:0.0	.	757;762	B7ZMK8;Q5K4E3	.;POLS2_HUMAN	F	762	ENSP00000268281:C762F	ENSP00000268281:C762F	C	-	2	0	PRSS36	31059120	0.996000	0.38824	1.000000	0.80357	0.967000	0.64934	0.620000	0.24403	2.447000	0.82792	0.555000	0.69702	TGT		0.527	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502	
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					uc002fqp.2																			2	Substitution - coding silent(2)		kidney(2)								c.(493-495)CGT>TGT		Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																																						0							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						uc002fqq.2_Missense_Mutation_p.R182C	p.R165C							3	971	+									Missense_Mutation	SNP	ENST00000564451.1	37	c.493C>T																																																																																					0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334	
NTN1	9423	broad.mit.edu	37	17	9066306	9066306	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:9066306A>T	ENST00000173229.2	+	3	1302	c.1195A>T	c.(1195-1197)Aag>Tag	p.K399*	NTN1_ENST00000546090.1_Nonsense_Mutation_p.K399*|NTN1_ENST00000538852.1_Nonsense_Mutation_p.K399*	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	399	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CACCCACCGGAAGGCCTGCAA	0.637																																						uc002glw.3																			0					0						c.(1195-1197)AAG>TAG		netrin 1 precursor							26.0	20.0	22.0					17																	9066306		2202	4300	6502	SO:0001587	stop_gained	9423				apoptosis|axon guidance		protein binding	g.chr17:9066306A>T	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1195A>T	17.37:g.9066306A>T	ENSP00000173229:p.Lys399*						p.K399*	NM_004822	NP_004813	O95631	NET1_HUMAN			3	1302	+			399			Laminin EGF-like 2.		E9KL51	Nonsense_Mutation	SNP	ENST00000173229.2	37	c.1195A>T	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	A	41	9.021207	0.99038	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090;ENST00000436734	.	.	.	4.89	4.89	0.63831	.	0.115004	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7974	0.69886	1.0:0.0:0.0:0.0	.	.	.	.	X	399;399;399;19	.	ENSP00000173229:K399X	K	+	1	0	NTN1	9007031	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.914000	0.75764	1.973000	0.57446	0.528000	0.53228	AAG		0.637	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1		
HNF1B	6928	broad.mit.edu	37	17	36059152	36059152	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:36059152A>G	ENST00000225893.4	-	8	1944	c.1583T>C	c.(1582-1584)tTt>tCt	p.F528S	HNF1B_ENST00000561193.1_Missense_Mutation_p.F502S|HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000560016.1_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	528					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGCAGATGGAAACCGGGAGGT	0.517																																					Colon(71;102 1179 9001 27917 43397)	uc002hok.3																			0				ovary(3)	3						c.(1582-1584)TTT>TCT		hepatocyte nuclear factor 1-beta isoform 1							125.0	108.0	114.0					17																	36059152		2203	4300	6503	SO:0001583	missense	6928	Hereditary_Prostate_Cancer			endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36059152A>G	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1583T>C	17.37:g.36059152A>G	ENSP00000225893:p.Phe528Ser					HNF1B_uc010wdi.1_Missense_Mutation_p.F502S	p.F528S	NM_000458	NP_000449	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		8	1804	-		Breast(25;0.00765)|Ovarian(249;0.15)	528					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.1583T>C	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761721	0.89932	.	.	ENSG00000108753	ENST00000225893;ENST00000539087	D	0.97831	-4.56	5.63	5.63	0.86233	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98229	0.9414	M	0.67953	2.075	0.80722	D	1	D;D	0.62365	0.981;0.991	D;P	0.64877	0.93;0.898	D	0.99267	1.0892	10	0.87932	D	0	.	15.329	0.74190	1.0:0.0:0.0:0.0	.	502;528	E0YMJ6;P35680	.;HNF1B_HUMAN	S	528;416	ENSP00000225893:F528S	ENSP00000225893:F528S	F	-	2	0	HNF1B	33133265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.282000	0.78630	2.281000	0.76405	0.533000	0.62120	TTT		0.517	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458	
TMC8	147138	broad.mit.edu	37	17	76128876	76128876	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:76128876G>A	ENST00000318430.5	+	5	830	c.456G>A	c.(454-456)caG>caA	p.Q152Q	TMC8_ENST00000589691.1_5'UTR|TMC6_ENST00000322914.3_5'Flank	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	152					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAGCCCTCCAGTGCCCTGGTA	0.592																																						uc002jup.2																			0					0						c.(454-456)CAG>CAA		transmembrane channel-like 8							101.0	99.0	100.0					17																	76128876		2203	4300	6503	SO:0001819	synonymous_variant	147138	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76128876G>A	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.456G>A	17.37:g.76128876G>A						TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_Translation_Start_Site|TMC8_uc010wtr.1_5'Flank	p.Q152Q	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		5	838	+			152			Lumenal (Potential).		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	37	c.456G>A	CCDS32749.1																																																																																				0.592	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3		
DSC1	1823	broad.mit.edu	37	18	28712602	28712602	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr18:28712602A>T	ENST00000257198.5	-	14	2428	c.2167T>A	c.(2167-2169)Tgt>Agt	p.C723S	RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.C723S|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	723					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCTGGAAAACATTTCTTGACT	0.328																																						uc002kwn.2																			0				ovary(3)|skin(1)	4						c.(2167-2169)TGT>AGT		desmocollin 1 isoform Dsc1a preproprotein							131.0	124.0	126.0					18																	28712602		2202	4300	6502	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28712602A>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2167T>A	18.37:g.28712602A>T	ENSP00000257198:p.Cys723Ser					DSC1_uc002kwm.2_Missense_Mutation_p.C723S	p.C723S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		14	2429	-			723			Cytoplasmic (Potential).		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.2167T>A	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.590737	0.28357	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.54675	0.6;0.56	5.84	3.44	0.39384	.	0.000000	0.64402	D	0.000018	T	0.50171	0.1600	L	0.60455	1.87	0.30522	N	0.76831	P;P	0.47484	0.896;0.799	P;B	0.50934	0.654;0.323	T	0.49093	-0.8975	10	0.18710	T	0.47	.	4.0278	0.09695	0.5961:0.0:0.1423:0.2617	.	723;723	Q08554;Q9HB00	DSC1_HUMAN;.	S	723	ENSP00000257197:C723S;ENSP00000257198:C723S	ENSP00000257197:C723S	C	-	1	0	DSC1	26966600	0.999000	0.42202	1.000000	0.80357	0.906000	0.53458	1.142000	0.31540	0.467000	0.27218	0.533000	0.62120	TGT		0.328	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	
REXO1	57455	broad.mit.edu	37	19	1827919	1827924	+	In_Frame_Del	DEL	TCTGAG	TCTGAG	-			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:1827919_1827924delTCTGAG	ENST00000170168.4	-	2	958_963	c.864_869delCTCAGA	c.(862-870)gactcagaa>gaa	p.DS288del	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	288						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GGCCTCATCTTCTGAGTCTGAGAACC	0.67																																						uc002lua.3																			0					0						c.(862-870)GACTCAGAA>GAA		transcription elongation factor B polypeptide 3																																				SO:0001651	inframe_deletion	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827919_1827924delTCTGAG	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.864_869delCTCAGA	19.37:g.1827925_1827930delTCTGAG	ENSP00000170168:p.Asp288_Ser289del					REXO1_uc010dsr.1_In_Frame_Del_p.DS242del	p.DS288del	NM_020695	NP_065746	Q8N1G1	REXO1_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)	2	959_964	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	288_289					Q9ULT2	In_Frame_Del	DEL	ENST00000170168.4	37	c.864_869delCTCAGA	CCDS32866.1																																																																																				0.670	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695	
GNA11	2767	broad.mit.edu	37	19	3113330	3113330	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:3113330C>T	ENST00000078429.4	+	3	566	c.324C>T	c.(322-324)gcC>gcT	p.A108A		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	108					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.A108A(1)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CCTCGCAGGCCAATGCGCTCC	0.662			Mis		uveal melanoma																																	uc002lxd.2				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		1	Substitution - coding silent(1)		endometrium(1)	eye(70)|skin(16)	86						c.(322-324)GCC>GCT		guanine nucleotide binding protein (G protein),							74.0	69.0	71.0					19																	3113330		2203	4300	6503	SO:0001819	synonymous_variant	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3113330C>T	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.324C>T	19.37:g.3113330C>T							p.A108A	NM_002067	NP_002058	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	3	566	+		Hepatocellular(1079;0.137)	108					O15109|Q14350|Q6IB00	Silent	SNP	ENST00000078429.4	37	c.324C>T	CCDS12103.1																																																																																				0.662	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067	
MCOLN1	57192	broad.mit.edu	37	19	7593590	7593590	+	Splice_Site	SNP	G	G	A	rs397843859		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:7593590G>A	ENST00000264079.6	+	8	1109		c.e8+1			NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1						calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGCAGAACGTGAGGCTTCT	0.637																																						uc002mgo.2																			0				breast(1)	1						c.e8+1		mucolipin 1							123.0	79.0	94.0					19																	7593590		2203	4300	6503	SO:0001630	splice_region_variant	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7593590G>A	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.984+1G>A	19.37:g.7593590G>A						MCOLN1_uc002mgp.2_Splice_Site_p.N293_splice	p.N328_splice	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN			8	1109	+								D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Splice_Site	SNP	ENST00000264079.6	37	c.984_splice	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018980	0.75275	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4854	0.84183	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCOLN1	7499590	1.000000	0.71417	0.965000	0.40720	0.744000	0.42396	9.439000	0.97543	2.492000	0.84095	0.563000	0.77884	.		0.637	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533	Intron
MUC16	94025	broad.mit.edu	37	19	9020077	9020077	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:9020077C>T	ENST00000397910.4	-	21	37621	c.37418G>A	c.(37417-37419)aGa>aAa	p.R12473K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12475	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCCGCTCTCTGTTGAGTCC	0.562																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37417-37419)AGA>AAA		mucin 16							177.0	155.0	162.0					19																	9020077		1948	4155	6103	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9020077C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37418G>A	19.37:g.9020077C>T	ENSP00000381008:p.Arg12473Lys						p.R12473K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			21	37622	-			12475			Extracellular (Potential).|SEA 3.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37418G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	14.81	2.646965	0.47258	.	.	ENSG00000181143	ENST00000397910	T	0.34859	1.34	3.32	3.32	0.38043	.	.	.	.	.	T	0.55940	0.1952	M	0.84683	2.71	.	.	.	D	0.71674	0.998	P	0.57620	0.824	T	0.72478	-0.4281	8	0.87932	D	0	.	10.8274	0.46640	0.0:1.0:0.0:0.0	.	12473	B5ME49	.	K	12473	ENSP00000381008:R12473K	ENSP00000381008:R12473K	R	-	2	0	MUC16	8881077	0.716000	0.27956	0.893000	0.35052	0.409000	0.31022	1.380000	0.34351	1.768000	0.52137	0.555000	0.69702	AGA		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
OR7G2	390882	broad.mit.edu	37	19	9213273	9213273	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:9213273A>G	ENST00000305456.2	-	1	709	c.710T>C	c.(709-711)tTg>tCg	p.L237S		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGTGTAAGACAAAATGATTCC	0.448																																					Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.1																			0				skin(1)	1						c.(709-711)TTG>TCG		olfactory receptor, family 7, subfamily G,							117.0	106.0	110.0					19																	9213273		2203	4300	6503	SO:0001583	missense	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213273A>G		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.710T>C	19.37:g.9213273A>G	ENSP00000303822:p.Leu237Ser						p.L237S	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			1	710	-			216			Helical; Name=5; (Potential).		Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	c.710T>C	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	a	9.019	0.984477	0.18889	.	.	ENSG00000170923	ENST00000305456	T	0.38887	1.11	3.14	-0.318	0.12728	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	U	0.001379	T	0.22513	0.0543	N	0.21282	0.65	0.09310	N	1	B	0.26809	0.16	B	0.25759	0.063	T	0.11470	-1.0586	10	0.66056	D	0.02	.	3.7982	0.08747	0.6423:0.0:0.1981:0.1596	.	216	Q8NG99	OR7G2_HUMAN	S	237	ENSP00000303822:L237S	ENSP00000303822:L237S	L	-	2	0	OR7G2	9074273	0.007000	0.16637	0.001000	0.08648	0.015000	0.08874	1.732000	0.38146	-0.124000	0.11724	0.367000	0.22151	TTG		0.448	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1		
AKAP8	10270	broad.mit.edu	37	19	15484623	15484623	+	Silent	SNP	A	A	G	rs117407939		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:15484623A>G	ENST00000269701.2	-	4	405	c.345T>C	c.(343-345)ggT>ggC	p.G115G		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	115	Poly-Gly.				mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TGCCCTCCCCACCGCCGCCGC	0.632																																					GBM(190;1671 2163 3274 27186 30476)	uc002nav.2																			0				ovary(1)|breast(1)	2						c.(343-345)GGT>GGC		A-kinase anchor protein 8							28.0	25.0	26.0					19																	15484623		2202	4300	6502	SO:0001819	synonymous_variant	10270				signal transduction	nuclear matrix		g.chr19:15484623A>G	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.345T>C	19.37:g.15484623A>G						AKAP8_uc010dzy.2_5'Flank|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Intron	p.G115G	NM_005858	NP_005849	O43823	AKAP8_HUMAN			4	406	-			115			Poly-Gly.			Silent	SNP	ENST00000269701.2	37	c.345T>C	CCDS12329.1																																																																																				0.632	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858	
ZNF99	7652	broad.mit.edu	37	19	22941396	22941396	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:22941396C>A	ENST00000596209.1	-	4	1405	c.1315G>T	c.(1315-1317)Gcc>Tcc	p.A439S	ZNF99_ENST00000397104.3_Missense_Mutation_p.A348S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCTAAGGGCTGAGAAACGC	0.363																																						uc010xrh.1																			0				ovary(1)|skin(1)	2						c.(1042-1044)GCC>TCC		zinc finger protein 99							57.0	59.0	58.0					19																	22941396		2035	4218	6253	SO:0001583	missense	7652							g.chr19:22941396C>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1315G>T	19.37:g.22941396C>A	ENSP00000472969:p.Ala439Ser						p.A348S	NM_001080409	NP_001073878					5	1042	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1042G>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.148535	0.00328	.	.	ENSG00000213973	ENST00000397104	T	0.18960	2.18	1.28	-0.287	0.12858	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08179	0.0204	N	0.05351	-0.065	0.09310	N	1	B	0.14438	0.01	B	0.24541	0.054	T	0.41893	-0.9483	9	0.06099	T	0.92	.	6.5009	0.22168	0.0:0.6964:0.3036:0.0	.	348	A8MXY4	ZNF99_HUMAN	S	348	ENSP00000380293:A348S	ENSP00000380293:A348S	A	-	1	0	ZNF99	22733236	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-7.487000	0.00035	0.675000	0.31264	0.395000	0.25975	GCC		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
FCGBP	8857	broad.mit.edu	37	19	40363235	40363235	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:40363235C>T	ENST00000221347.6	-	32	14842	c.14835G>A	c.(14833-14835)gtG>gtA	p.V4945V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4945	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTCGGCGGTCACCCGCACGC	0.657																																						uc002omp.3																			0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(14833-14835)GTG>GTA		Fc fragment of IgG binding protein precursor							23.0	29.0	27.0					19																	40363235		2200	4297	6497	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40363235C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14835G>A	19.37:g.40363235C>T							p.V4945V	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		32	14843	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4945			VWFD 12.		O95784	Silent	SNP	ENST00000221347.6	37	c.14835G>A	CCDS12546.1																																																																																				0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
PELI1	57162	broad.mit.edu	37	2	64323378	64323378	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:64323378T>C	ENST00000358912.4	-	6	1013	c.571A>G	c.(571-573)Atg>Gtg	p.M191V		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	191					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CGTGGATGCATCACAAGAACA	0.458																																						uc002scs.3																			0				ovary(1)	1						c.(571-573)ATG>GTG		pellino protein							156.0	142.0	147.0					2																	64323378		2203	4300	6503	SO:0001583	missense	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64323378T>C		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.571A>G	2.37:g.64323378T>C	ENSP00000351789:p.Met191Val					PELI1_uc002sct.3_Missense_Mutation_p.M191V|PELI1_uc002scr.3_Missense_Mutation_p.M12V	p.M191V	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN			5	4610	-			191					Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	37	c.571A>G	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455475	0.84209	.	.	ENSG00000197329	ENST00000358912	T	0.49432	0.78	5.54	5.54	0.83059	.	0.071816	0.85682	D	0.000000	T	0.65585	0.2705	M	0.86028	2.79	0.58432	D	0.999997	P	0.51057	0.941	P	0.52598	0.703	T	0.72646	-0.4230	10	0.72032	D	0.01	-0.0466	15.9649	0.79961	0.0:0.0:0.0:1.0	.	191	Q96FA3	PELI1_HUMAN	V	191	ENSP00000351789:M191V	ENSP00000351789:M191V	M	-	1	0	PELI1	64176882	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.997000	0.88414	2.232000	0.73038	0.533000	0.62120	ATG		0.458	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651	
ARHGAP25	9938	broad.mit.edu	37	2	69053291	69053291	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:69053291G>A	ENST00000295381.3	+	11	2322	c.1903G>A	c.(1903-1905)Gtc>Atc	p.V635I	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.V329I|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.V636I|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.V629I|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.V628I|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.V596I	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	635					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAAGGAATTTGTCAAATCCAT	0.552																																						uc002seu.2																			0				ovary(2)|breast(2)	4						c.(1903-1905)GTC>ATC		Rho GTPase activating protein 25 isoform a							84.0	88.0	86.0					2																	69053291		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69053291G>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1903G>A	2.37:g.69053291G>A	ENSP00000295381:p.Val635Ile					ARHGAP25_uc010fdg.2_Missense_Mutation_p.V636I|ARHGAP25_uc010yql.1_Missense_Mutation_p.V596I|ARHGAP25_uc002sew.2_Missense_Mutation_p.V628I|ARHGAP25_uc002sex.2_Missense_Mutation_p.V629I|ARHGAP25_uc002sey.2_Missense_Mutation_p.V362I	p.V635I	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			11	2267	+			635			Potential.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1903G>A		.	.	.	.	.	.	.	.	.	.	G	15.12	2.739113	0.49045	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000543533;ENST00000479844	T;T;T;T;T;T	0.17370	2.86;2.86;2.6;2.86;2.86;2.28	5.95	5.02	0.67125	.	0.210198	0.42548	D	0.000692	T	0.12603	0.0306	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B	0.33171	0.278;0.4;0.4;0.4;0.215	B;B;B;B;B	0.33960	0.084;0.173;0.173;0.121;0.101	T	0.06180	-1.0841	10	0.37606	T	0.19	.	10.9543	0.47347	0.0717:0.1317:0.7966:0.0	.	596;636;629;628;635	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331	.;.;.;.;RHG25_HUMAN	I	635;636;596;628;629;620;329	ENSP00000295381:V635I;ENSP00000386911:V636I;ENSP00000420583:V596I;ENSP00000386863:V628I;ENSP00000386241:V629I;ENSP00000417467:V329I	ENSP00000295381:V635I	V	+	1	0	ARHGAP25	68906795	0.998000	0.40836	0.990000	0.47175	0.954000	0.61252	1.024000	0.30077	2.824000	0.97209	0.655000	0.94253	GTC		0.552	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	
MAP3K19	80122	broad.mit.edu	37	2	135738921	135738921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:135738921G>T	ENST00000375845.3	-	9	3420	c.3390C>A	c.(3388-3390)tgC>tgA	p.C1130*	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Nonsense_Mutation_p.C264*|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Nonsense_Mutation_p.C262*|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.C1017*|MAP3K19_ENST00000375844.3_Nonsense_Mutation_p.C312*	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCTCTTGCAAGCATGTCCCCA	0.418																																						uc002tue.1																			0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(3388-3390)TGC>TGA		Yeast Sps1/Ste20-related kinase 4 isoform 1							149.0	136.0	141.0					2																	135738921		2203	4300	6503	SO:0001587	stop_gained	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135738921G>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3390C>A	2.37:g.135738921G>T	ENSP00000365005:p.Cys1130*					YSK4_uc002tuf.1_Nonsense_Mutation_p.C312*|YSK4_uc010fnc.1_Nonsense_Mutation_p.C264*|YSK4_uc010fnd.1_Nonsense_Mutation_p.C1017*|YSK4_uc010zbg.1_Nonsense_Mutation_p.C262*|YSK4_uc002tuh.3_Nonsense_Mutation_p.C858*|YSK4_uc002tui.3_3'UTR	p.C1130*	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	9	3421	-			1130			Protein kinase.		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	ENST00000375845.3	37	c.3390C>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276984	0.80580	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365	.	.	.	5.75	4.79	0.61399	.	0.130080	0.35708	N	0.003021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7105	0.51623	0.1574:0.0:0.8426:0.0	.	.	.	.	X	1130;1017;312;264;262;520	.	ENSP00000351140:C1017X	C	-	3	2	YSK4	135455391	0.998000	0.40836	1.000000	0.80357	0.933000	0.57130	0.495000	0.22483	1.271000	0.44313	0.563000	0.77884	TGC		0.418	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
SAG	6295	broad.mit.edu	37	2	234237130	234237130	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:234237130C>T	ENST00000409110.1	+	8	749	c.519C>T	c.(517-519)tcC>tcT	p.S173S	SAG_ENST00000449594.2_Silent_p.S39S	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	173					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		ACAGGAGCTCCGTGCGATTAC	0.592																																						uc002vuh.2																			0				ovary(1)	1						c.(517-519)TCC>TCT		S-arrestin							159.0	139.0	145.0					2																	234237130		1983	4151	6134	SO:0001819	synonymous_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237130C>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.519C>T	2.37:g.234237130C>T						SAG_uc010zmq.1_Silent_p.S39S	p.S173S	NM_000541	NP_000532	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	8	907	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	173					A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	c.519C>T	CCDS46545.1																																																																																				0.592	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541	
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						uc010ztl.1																			2	Substitution - Missense(2)		prostate(2)		0						c.(211-213)AGT>AAT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N	p.S71N							3	244	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.212G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
KCNG1	3755	broad.mit.edu	37	20	49626630	49626630	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr20:49626630G>A	ENST00000371571.4	-	2	531	c.246C>T	c.(244-246)gaC>gaT	p.D82D	KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Silent_p.D82D|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	82					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCGGGAACTCGTCCAGCGTGG	0.632																																						uc002xwa.3																			0				ovary(1)|central_nervous_system(1)	2						c.(244-246)GAC>GAT		potassium voltage-gated channel, subfamily G,							70.0	61.0	64.0					20																	49626630		2203	4300	6503	SO:0001819	synonymous_variant	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626630G>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.246C>T	20.37:g.49626630G>A						KCNG1_uc002xwb.2_Silent_p.D82D	p.D82D	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			2	541	-			82			Cytoplasmic (Potential).		A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	c.246C>T	CCDS13436.1																																																																																				0.632	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237	
LZTR1	8216	broad.mit.edu	37	22	21349215	21349217	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr22:21349215_21349217delGAA	ENST00000215739.8	+	16	2201_2203	c.1842_1844delGAA	c.(1840-1845)atgaag>atg	p.K615del	LZTR1_ENST00000389355.3_In_Frame_Del_p.K596del|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	615					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGATCATGATGAAGGAGTTCGAG	0.601																																						uc002zto.2																			0				ovary(2)|lung(2)	4						c.(1840-1845)ATGAAG>ATG		leucine-zipper-like transcription regulator 1																																				SO:0001651	inframe_deletion	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21349215_21349217delGAA	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1842_1844delGAA	22.37:g.21349215_21349217delGAA	ENSP00000215739:p.Lys615del					LZTR1_uc002ztn.2_In_Frame_Del_p.K574del|LZTR1_uc011ahy.1_In_Frame_Del_p.K596del|LZTR1_uc002ztp.2_5'Flank	p.K615del	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		16	1945_1947	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	615					Q14776|Q20WK0	In_Frame_Del	DEL	ENST00000215739.8	37	c.1842_1844delGAA	CCDS33606.1																																																																																				0.601	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
MN1	4330	broad.mit.edu	37	22	28193444	28193444	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr22:28193444C>T	ENST00000302326.4	-	1	4042	c.3088G>A	c.(3088-3090)Ggc>Agc	p.G1030S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1030					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TTGGCCCCGCCGTCCAGGGAC	0.657			T	ETV6	"""AML, meningioma"""																																	uc003adj.2				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(3088-3090)GGC>AGC		meningioma  1							48.0	53.0	52.0					22																	28193444		2069	4187	6256	SO:0001583	missense	4330						binding	g.chr22:28193444C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3088G>A	22.37:g.28193444C>T	ENSP00000304956:p.Gly1030Ser						p.G1030S	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	4043	-			1030					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.3088G>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.764678	0.00651	.	.	ENSG00000169184	ENST00000302326	T	0.38887	1.11	4.1	-0.605	0.11623	.	0.116835	0.56097	N	0.000040	T	0.11965	0.0291	N	0.01576	-0.805	0.24779	N	0.992827	B	0.09022	0.002	B	0.09377	0.004	T	0.33163	-0.9879	10	0.09590	T	0.72	-7.8156	7.0507	0.25071	0.0:0.3175:0.0:0.6825	.	1030	Q10571	MN1_HUMAN	S	1030	ENSP00000304956:G1030S	ENSP00000304956:G1030S	G	-	1	0	MN1	26523444	1.000000	0.71417	0.980000	0.43619	0.037000	0.13140	2.130000	0.42064	0.059000	0.16252	-0.379000	0.06801	GGC		0.657	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430	
NEK4	6787	broad.mit.edu	37	3	52780805	52780807	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:52780805_52780807delCTC	ENST00000233027.5	-	9	1822_1824	c.1620_1622delGAG	c.(1618-1623)aggaga>aga	p.540_541RR>R	NEK4_ENST00000535191.1_In_Frame_Del_p.451_452RR>R|NEK4_ENST00000383721.4_In_Frame_Del_p.494_495RR>R	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	540					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGTCTGTTCTCTCCTCTTTTGCC	0.483																																						uc003dfq.3																			0				large_intestine(1)	1						c.(1618-1623)AGGAGA>AGA		NIMA-related kinase 4																																				SO:0001651	inframe_deletion	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52780805_52780807delCTC	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1620_1622delGAG	3.37:g.52780808_52780810delCTC	ENSP00000233027:p.Arg541del					NEK4_uc011bej.1_In_Frame_Del_p.451_452RR>R|NEK4_uc003dfr.2_In_Frame_Del_p.494_495RR>R	p.540_541RR>R	NM_003157	NP_003148	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	9	1809_1811	-			540_541					A5YM70|B2R633|B7Z200|Q6P576	In_Frame_Del	DEL	ENST00000233027.5	37	c.1620_1622delGAG	CCDS2863.1																																																																																				0.483	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157	
PRKCD	5580	broad.mit.edu	37	3	53222823	53222823	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:53222823G>A	ENST00000394729.2	+	15	1831	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	PRKCD_ENST00000330452.3_Silent_p.G501G	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	501	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	ACATATTCGGGGAGAGCCGGG	0.602																																						uc003dgl.2																			0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(1501-1503)GGG>GGA		protein kinase C, delta							91.0	91.0	91.0					3																	53222823		2203	4300	6503	SO:0001819	synonymous_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53222823G>A		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1503G>A	3.37:g.53222823G>A						PRKCD_uc003dgm.2_Silent_p.G501G	p.G501G	NM_006254	NP_006245	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	16	1856	+		Ovarian(412;0.0728)	501			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	ENST00000394729.2	37	c.1503G>A	CCDS2870.1																																																																																				0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1		
HHLA2	11148	broad.mit.edu	37	3	108076824	108076824	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:108076824C>T	ENST00000357759.5	+	6	1233	c.819C>T	c.(817-819)taC>taT	p.Y273Y	HHLA2_ENST00000489514.2_Silent_p.Y273Y|HHLA2_ENST00000491820.1_Silent_p.Y273Y|HHLA2_ENST00000467562.1_Silent_p.Y209Y|HHLA2_ENST00000467761.1_Silent_p.Y273Y	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	273	Ig-like V-type 2.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCCTGGCTTACTATCTGAGCT	0.383																																						uc003dwy.3																			0				ovary(1)	1						c.(817-819)TAC>TAT		HERV-H LTR-associating 2 precursor							147.0	143.0	145.0					3																	108076824		1851	4096	5947	SO:0001819	synonymous_variant	11148					integral to membrane		g.chr3:108076824C>T	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.819C>T	3.37:g.108076824C>T						HHLA2_uc011bhl.1_Silent_p.Y209Y|HHLA2_uc010hpu.2_Silent_p.Y273Y|HHLA2_uc003dwz.2_Silent_p.Y273Y	p.Y273Y	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN			6	986	+			273			Ig-like V-type 2.		B4DKN2|D3DN60|Q9NWQ6	Silent	SNP	ENST00000357759.5	37	c.819C>T	CCDS46883.1																																																																																				0.383	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072	
PKD2	5311	broad.mit.edu	37	4	88973174	88973174	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:88973174A>G	ENST00000237596.2	+	7	1646	c.1580A>G	c.(1579-1581)tAc>tGc	p.Y527C	PKD2_ENST00000508588.1_5'UTR	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATTAACATATACAGAACATCA	0.328																																						uc003hre.2																			0				skin(1)	1						c.(1579-1581)TAC>TGC		polycystin 2							72.0	72.0	72.0					4																	88973174		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88973174A>G	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1580A>G	4.37:g.88973174A>G	ENSP00000237596:p.Tyr527Cys					PKD2_uc011cdf.1_Translation_Start_Site|PKD2_uc011cdg.1_Translation_Start_Site|PKD2_uc011cdh.1_Translation_Start_Site	p.Y527C	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	7	1646	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	527			Extracellular (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1580A>G	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	A	5.795	0.331084	0.10956	.	.	ENSG00000118762	ENST00000237596	T	0.70749	-0.51	5.23	5.23	0.72850	Polycystin cation channel, PKD1/PKD2 (1);	0.351883	0.33854	N	0.004489	T	0.72382	0.3453	M	0.78916	2.43	0.80722	D	1	B	0.02656	0.0	B	0.15052	0.012	T	0.71174	-0.4670	10	0.52906	T	0.07	-2.5939	15.4425	0.75195	1.0:0.0:0.0:0.0	.	527	Q13563	PKD2_HUMAN	C	527	ENSP00000237596:Y527C	ENSP00000237596:Y527C	Y	+	2	0	PKD2	89192198	0.044000	0.20184	0.045000	0.18777	0.040000	0.13550	2.649000	0.46656	2.100000	0.63781	0.533000	0.62120	TAC		0.328	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297	
POU4F2	5458	broad.mit.edu	37	4	147561831	147561831	+	Missense_Mutation	SNP	G	G	T	rs372860552		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:147561831G>T	ENST00000281321.3	+	2	1349	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	367					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TTGCCATTCAGCCTCGGCCCT	0.582																																						uc003ikv.2																			0				breast(1)	1						c.(1099-1101)CAG>CAT		Brn3b POU domain transcription factor							62.0	66.0	65.0					4																	147561831		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561831G>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.1101G>T	4.37:g.147561831G>T	ENSP00000281321:p.Gln367His						p.Q367H	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	1349	+	all_hematologic(180;0.151)		367			Homeobox.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.1101G>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242842	0.58995	.	.	ENSG00000151615	ENST00000281321	D	0.96265	-3.96	5.55	4.71	0.59529	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	D	0.97702	1.0185	10	0.87932	D	0	.	14.314	0.66434	0.0714:0.0:0.9286:0.0	.	367	Q12837	PO4F2_HUMAN	H	367	ENSP00000281321:Q367H	ENSP00000281321:Q367H	Q	+	3	2	POU4F2	147781281	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.738000	0.74822	1.355000	0.45865	0.561000	0.74099	CAG		0.582	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575	
TLR2	7097	broad.mit.edu	37	4	154624496	154624496	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:154624496C>G	ENST00000260010.6	+	1	1845	c.437C>G	c.(436-438)tCt>tGt	p.S146C		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	146					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.S146C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TCTCTTTTTTCTCATCTCACA	0.373																																						uc003inq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(436-438)TCT>TGT		toll-like receptor 2 precursor							46.0	50.0	49.0					4																	154624496		2197	4299	6496	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154624496C>G	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.437C>G	4.37:g.154624496C>G	ENSP00000260010:p.Ser146Cys					TLR2_uc003inr.2_Missense_Mutation_p.S146C|TLR2_uc003ins.2_Missense_Mutation_p.S146C	p.S146C	NM_003264	NP_003255	O60603	TLR2_HUMAN			3	656	+	all_hematologic(180;0.093)	Renal(120;0.117)	146			LRR 4.|Extracellular (Potential).		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.437C>G	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643087	0.47153	.	.	ENSG00000137462	ENST00000260010	T	0.01099	5.34	5.81	4.05	0.47172	.	0.559647	0.19389	N	0.115446	T	0.03520	0.0101	L	0.44542	1.39	0.29507	N	0.854461	D	0.69078	0.997	D	0.63488	0.915	T	0.14699	-1.0463	10	0.66056	D	0.02	.	11.3551	0.49611	0.1254:0.8083:0.0:0.0662	.	146	O60603	TLR2_HUMAN	C	146	ENSP00000260010:S146C	ENSP00000260010:S146C	S	+	2	0	TLR2	154843946	0.008000	0.16893	0.847000	0.33407	0.855000	0.48748	0.574000	0.23714	1.439000	0.47511	0.655000	0.94253	TCT		0.373	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1		
PIK3R1	5295	broad.mit.edu	37	5	67589149	67589149	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:67589149A>T	ENST00000521381.1	+	10	1753	c.1137A>T	c.(1135-1137)aaA>aaT	p.K379N	PIK3R1_ENST00000521657.1_Missense_Mutation_p.K379N|PIK3R1_ENST00000336483.5_Missense_Mutation_p.K109N|PIK3R1_ENST00000396611.1_Missense_Mutation_p.K379N|PIK3R1_ENST00000320694.8_Missense_Mutation_p.K79N|PIK3R1_ENST00000274335.5_Missense_Mutation_p.K379N|PIK3R1_ENST00000523872.1_Missense_Mutation_p.K16N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	379	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAAATAACAAATTAATCAAAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		2	Whole gene deletion(1)|Unknown(1)	p.?(1)	large_intestine(1)|lung(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1135-1137)AAA>AAT		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						53.0	59.0	57.0					5																	67589149		2187	4295	6482	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589149A>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1137A>T	5.37:g.67589149A>T	ENSP00000428056:p.Lys379Asn	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Missense_Mutation_p.K379N|PIK3R1_uc003jvc.2_Missense_Mutation_p.K79N|PIK3R1_uc003jvd.2_Missense_Mutation_p.K109N|PIK3R1_uc003jve.2_Missense_Mutation_p.K58N|PIK3R1_uc011crb.1_Missense_Mutation_p.K49N	p.K379N	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1697	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	379			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1137A>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982589	0.74474	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	D;D;D;D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.2	2.78	0.32641	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.94955	0.8368	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.995;0.999	D	0.94107	0.7367	10	0.87932	D	0	-33.0253	9.9875	0.41849	0.8618:0.0:0.1382:0.0	.	49;109;79;379	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	N	379;379;379;379;109;79;16;109;52;16	ENSP00000428056:K379N;ENSP00000429277:K379N;ENSP00000379855:K379N;ENSP00000274335:K379N;ENSP00000430126:K109N;ENSP00000323512:K79N;ENSP00000431058:K16N;ENSP00000338554:K109N;ENSP00000429156:K52N;ENSP00000430098:K16N	ENSP00000274335:K379N	K	+	3	2	PIK3R1	67624905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.040000	0.57333	0.516000	0.28340	0.454000	0.30748	AAA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
CXXC5	51523	broad.mit.edu	37	5	139060958	139060958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:139060958C>T	ENST00000302517.3	+	2	1564	c.850C>T	c.(850-852)Cga>Tga	p.R284*	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Nonsense_Mutation_p.R284*	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	284					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTAGGAATCGAAAGACTGG	0.562																																						uc010jfg.1																			0				central_nervous_system(1)	1						c.(850-852)CGA>TGA		CXXC finger 5							83.0	95.0	91.0					5																	139060958		2002	4163	6165	SO:0001587	stop_gained	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060958C>T	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.850C>T	5.37:g.139060958C>T	ENSP00000302543:p.Arg284*					CXXC5_uc003let.2_Nonsense_Mutation_p.R284*	p.R284*	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1140	+			284			CXXC-type.		B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Nonsense_Mutation	SNP	ENST00000302517.3	37	c.850C>T	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	C	43	10.199401	0.99358	.	.	ENSG00000171604	ENST00000302517;ENST00000511048	.	.	.	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6902	18.1555	0.89689	0.0:1.0:0.0:0.0	.	.	.	.	X	284	.	ENSP00000302543:R284X	R	+	1	2	CXXC5	139041142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.525000	0.67110	2.289000	0.77006	0.511000	0.50034	CGA		0.562	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463	
PCDHB12	56124	broad.mit.edu	37	5	140590067	140590067	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:140590067C>T	ENST00000239450.2	+	1	1777	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R193C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCAGTTCCGCGTGGGCGC	0.677																																						uc003liz.2																			0				skin(2)|ovary(1)	3						c.(1588-1590)CGC>TGC		protocadherin beta 12 precursor							65.0	71.0	69.0					5																	140590067		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590067C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1588C>T	5.37:g.140590067C>T	ENSP00000239450:p.Arg530Cys					PCDHB12_uc011dak.1_Missense_Mutation_p.R193C	p.R530C	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1777	+			530			Extracellular (Potential).|Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1588C>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	7.187	0.590694	0.13812	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.01767	4.65;4.65	3.41	-6.81	0.01704	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01835	0.0058	L	0.55103	1.725	0.09310	N	1	B	0.22276	0.067	B	0.24269	0.052	T	0.45249	-0.9274	9	0.54805	T	0.06	.	3.4651	0.07547	0.1552:0.261:0.4232:0.1606	.	530	Q9Y5F1	PCDBC_HUMAN	C	193;530;150	ENSP00000440199:R193C;ENSP00000239450:R530C	ENSP00000239450:R530C	R	+	1	0	PCDHB12	140570251	0.000000	0.05858	0.274000	0.24659	0.634000	0.38068	-7.024000	0.00046	-1.050000	0.03230	0.485000	0.47835	CGC		0.677	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
PCDHGB6	56100	broad.mit.edu	37	5	140788951	140788951	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:140788951T>G	ENST00000520790.1	+	1	1182	c.1182T>G	c.(1180-1182)atT>atG	p.I394M	PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	394	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I394M(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCAAGATTTATTCTTCTT	0.453																																						uc003lkj.1																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(1180-1182)ATT>ATG		protocadherin gamma subfamily B, 6 isoform 1							50.0	53.0	52.0					5																	140788951		1920	4138	6058	SO:0001583	missense	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140788951T>G	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1182T>G	5.37:g.140788951T>G	ENSP00000428603:p.Ile394Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.I394M	p.I394M	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1182	+			394			Extracellular (Potential).|Cadherin 4.		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.1182T>G	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	t	11.71	1.720291	0.30503	.	.	ENSG00000253305	ENST00000520790	T	0.64803	-0.12	5.47	-0.593	0.11667	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75443	0.3850	M	0.88570	2.965	0.09310	N	1	D;D	0.67145	0.996;0.995	D;D	0.72338	0.977;0.962	T	0.61806	-0.6987	9	0.66056	D	0.02	.	1.8193	0.03107	0.2275:0.1412:0.105:0.5262	.	394;394	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	M	394	ENSP00000428603:I394M	ENSP00000428603:I394M	I	+	3	3	PCDHGB6	140769135	0.000000	0.05858	0.196000	0.23383	0.821000	0.46438	-1.705000	0.01896	0.046000	0.15833	0.460000	0.39030	ATT		0.453	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
BMP5	653	broad.mit.edu	37	6	55739290	55739290	+	Missense_Mutation	SNP	C	C	T	rs148184427		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr6:55739290C>T	ENST00000370830.3	-	1	1072	c.374G>A	c.(373-375)cGt>cAt	p.R125H	BMP5_ENST00000446683.2_Missense_Mutation_p.R125H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	125					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGTATGCGACGAGGATACCC	0.522																																						uc003pcq.2																			0				ovary(2)	2						c.(373-375)CGT>CAT		bone morphogenetic protein 5 preproprotein		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	136.0	118.0	124.0		374	3.8	1.0	6	dbSNP_134	124	0,8600		0,0,4300	yes	missense	BMP5	NM_021073.2	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	125/455	55739290	3,13003	2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739290C>T		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.374G>A	6.37:g.55739290C>T	ENSP00000359866:p.Arg125His					BMP5_uc011dxf.1_Missense_Mutation_p.R125H	p.R125H	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	1086	-	Lung NSC(77;0.0462)		125					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.374G>A	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547045	0.27652	6.81E-4	0.0	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.73047	-0.71;-0.34	5.96	3.85	0.44370	Transforming growth factor-beta, N-terminal (1);	0.179635	0.50627	N	0.000112	T	0.27697	0.0681	N	0.02539	-0.55	0.44587	D	0.997557	B;B	0.06786	0.001;0.001	B;B	0.09377	0.001;0.004	T	0.11494	-1.0585	10	0.32370	T	0.25	.	13.054	0.58969	0.0:0.8463:0.0:0.1537	.	125;125	B4E0Y4;P22003	.;BMP5_HUMAN	H	125	ENSP00000359866:R125H;ENSP00000391818:R125H	ENSP00000359866:R125H	R	-	2	0	BMP5	55847249	0.998000	0.40836	0.980000	0.43619	0.990000	0.78478	3.605000	0.54088	1.504000	0.48704	0.650000	0.86243	CGT		0.522	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1		
LAMA2	3908	broad.mit.edu	37	6	129687471	129687471	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr6:129687471C>T	ENST00000421865.2	+	33	4874	c.4825C>T	c.(4825-4827)Ctg>Ttg	p.L1609L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1609	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATAAAATGCTGTATGGTCT	0.517																																						uc003qbn.2																			0				ovary(8)|breast(1)|skin(1)	10						c.(4825-4827)CTG>TTG		laminin alpha 2 subunit isoform a precursor							75.0	66.0	69.0					6																	129687471		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129687471C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4825C>T	6.37:g.129687471C>T						LAMA2_uc003qbo.2_Silent_p.L1609L	p.L1609L	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	33	4930	+			1609			Domain II and I.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.4825C>T	CCDS5138.1																																																																																				0.517	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
CNTNAP2	26047	broad.mit.edu	37	7	147914501	147914501	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr7:147914501G>A	ENST00000361727.3	+	19	3648	c.3132G>A	c.(3130-3132)ccG>ccA	p.P1044P	CNTNAP2_ENST00000538075.1_Silent_p.P103P	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1044					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.P1044P(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTCCCACCCGGACCTGGCAC	0.562										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - coding silent(1)		endometrium(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3130-3132)CCG>CCA		cell recognition molecule Caspr2 precursor							116.0	111.0	113.0					7																	147914501		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914501G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3132G>A	7.37:g.147914501G>A		HNSCC(39;0.1)					p.P1044P	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3648	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1044			Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.3132G>A	CCDS5889.1																																																																																				0.562	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
ARMC1	55156	broad.mit.edu	37	8	66534548	66534548	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr8:66534548C>G	ENST00000276569.3	-	3	469	c.225G>C	c.(223-225)aaG>aaC	p.K75N	ARMC1_ENST00000458464.2_Missense_Mutation_p.D37H|ARMC1_ENST00000523384.1_Intron	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	75					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CTCCTTTCATCTTTTCTCTGT	0.338																																						uc003xvl.2																			0				skin(1)	1						c.(223-225)AAG>AAC		armadillo repeat-containing protein							176.0	168.0	171.0					8																	66534548		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66534548C>G	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.225G>C	8.37:g.66534548C>G	ENSP00000276569:p.Lys75Asn					ARMC1_uc011leo.1_Missense_Mutation_p.D37H	p.K75N	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		3	460	-			75			ARM.		B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.225G>C	CCDS6181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.95|12.95	2.090903|2.090903	0.36855|0.36855	.|.	.|.	ENSG00000104442|ENSG00000104442	ENST00000458464|ENST00000276569;ENST00000518908;ENST00000519352	.|T;T;T	.|0.45276	.|0.9;0.9;0.9	4.99|4.99	3.11|3.11	0.35812|0.35812	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.35068|0.35068	0.0919|0.0919	M|M	0.70595|0.70595	2.14|2.14	0.27935|0.27935	N|N	0.937737|0.937737	P|P	0.50528|0.34462	0.936|0.454	P|B	0.50659|0.26202	0.647|0.067	T|T	0.20907|0.20907	-1.0261|-1.0261	8|10	0.27785|0.16420	T|T	0.31|0.52	.|.	10.3669|10.3669	0.44030|0.44030	0.0:0.7973:0.0:0.2027|0.0:0.7973:0.0:0.2027	.|.	37|75	B4E2W7|Q9NVT9	.|ARMC1_HUMAN	H|N	37|75	.|ENSP00000276569:K75N;ENSP00000429191:K75N;ENSP00000429715:K75N	ENSP00000388572:D37H|ENSP00000276569:K75N	D|K	-|-	1|3	0|2	ARMC1|ARMC1	66697102|66697102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.536000|1.536000	0.36072|0.36072	0.547000|0.547000	0.28938|0.28938	0.467000|0.467000	0.42956|0.42956	GAT|AAG		0.338	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120	
PTGER4P2	5736	broad.mit.edu	37	9	66499750	66499750	+	IGR	SNP	G	G	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr9:66499750G>C								RP11-262H14.1 (30440 upstream) : RP11-262H14.7 (17455 downstream)																							TCCATTTTCGGGGTGGTGGGC	0.602																																						uc004aee.1																			0					0						c.(559-561)GGG>GCG		Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																																				SO:0001628	intergenic_variant	442421							g.chr9:66499750G>C																													9.37:g.66499750G>C						LOC442421_uc004aed.1_RNA	p.G187A							1	560	+									Missense_Mutation	SNP		37	c.560G>C																																																																																				0	0.602								
OR1L1	26737	broad.mit.edu	37	9	125424624	125424624	+	Silent	SNP	G	G	A	rs560776179		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr9:125424624G>A	ENST00000373686.1	+	1	780	c.780G>A	c.(778-780)ccG>ccA	p.P260P	OR1L1_ENST00000309623.1_Silent_p.P210P			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TAATGACCCCGTTTTCATGCA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		25062	0.001		0.0	False		,,,				2504	0.0					uc011lza.1																			0				skin(3)|ovary(1)	4						c.(778-780)CCG>CCA		olfactory receptor, family 1, subfamily L,							184.0	183.0	184.0					9																	125424624		2203	4300	6503	SO:0001819	synonymous_variant	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424624G>A		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.780G>A	9.37:g.125424624G>A							p.P260P	NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN			1	780	+			260			Helical; Name=5; (Potential).		Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	37	c.780G>A																																																																																					0.413	OR1L1-201	KNOWN	basic	protein_coding	protein_coding			
MID1	4281	broad.mit.edu	37	X	10535512	10535512	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:10535512C>T	ENST00000317552.4	-	2	476	c.76G>A	c.(76-78)Gca>Aca	p.A26T	MID1_ENST00000380779.1_Missense_Mutation_p.A26T|MID1_ENST00000380785.1_Missense_Mutation_p.A26T|MID1_ENST00000380787.1_Missense_Mutation_p.A26T|MID1_ENST00000380782.2_Missense_Mutation_p.A26T|MID1_ENST00000380780.1_Missense_Mutation_p.A26T|MID1_ENST00000453318.2_Missense_Mutation_p.A26T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	26					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTGTGTGCGCAGGGCAGT	0.557																																						uc004cte.3																			0				ovary(2)|pancreas(1)	3						c.(76-78)GCA>ACA		midline 1							115.0	98.0	104.0					X																	10535512		2203	4300	6503	SO:0001583	missense	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10535512C>T	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.76G>A	X.37:g.10535512C>T	ENSP00000312678:p.Ala26Thr					MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Missense_Mutation_p.A26T|MID1_uc004cth.3_Missense_Mutation_p.A26T|MID1_uc004ctk.3_Missense_Mutation_p.A26T|MID1_uc004cti.3_Missense_Mutation_p.A26T|MID1_uc004ctj.3_Missense_Mutation_p.A26T|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.A26T|MID1_uc004ctn.1_Missense_Mutation_p.A26T|MID1_uc004cto.1_Missense_Mutation_p.A26T|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Missense_Mutation_p.A26T|MID1_uc004ctu.2_Missense_Mutation_p.A26T|MID1_uc004ctv.2_Missense_Mutation_p.A26T|MID1_uc004ctw.2_Missense_Mutation_p.A26T|MID1_uc010ndy.1_Missense_Mutation_p.A26T|uc010ndz.1_5'Flank|MID1_uc004cty.2_Missense_Mutation_p.A26T|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Missense_Mutation_p.A26T|MID1_uc010nea.1_5'Flank|MID1_uc004cuc.1_Missense_Mutation_p.A26T|MID1_uc004cud.1_Missense_Mutation_p.A26T|MID1_uc004cue.1_Missense_Mutation_p.A26T|MID1_uc004cuf.1_Missense_Mutation_p.A26T|MID1_uc004cug.1_Missense_Mutation_p.A26T	p.A26T	NM_033290	NP_150632	O15344	TRI18_HUMAN			2	267	-			26			RING-type.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.76G>A	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822479	0.90873	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894;ENST00000423614	T;T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.64	5.64	0.86602	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	L	0.37897	1.145	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.989;0.911;0.999;0.991;0.992;0.992	T	0.02042	-1.1224	10	0.42905	T	0.14	.	18.7983	0.92005	0.0:1.0:0.0:0.0	.	26;26;26;26;26;26	C9JZJ7;B7Z5K6;C9J453;O15344-2;A8K5A0;O15344	.;.;.;.;.;TRI18_HUMAN	T	26	ENSP00000414521:A26T;ENSP00000312678:A26T;ENSP00000370162:A26T;ENSP00000370156:A26T;ENSP00000370164:A26T;ENSP00000370157:A26T;ENSP00000370159:A26T;ENSP00000391154:A26T;ENSP00000387771:A26T	ENSP00000312678:A26T	A	-	1	0	MID1	10495512	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.663000	0.83820	2.386000	0.81285	0.600000	0.82982	GCA		0.557	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1		
DCAF12L2	340578	broad.mit.edu	37	X	125299277	125299277	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:125299277C>T	ENST00000360028.2	-	1	657	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G211S			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	211										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCGCGGGAGCCGCTCACAGCT	0.647																																						uc004euk.1																			0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(631-633)GGC>AGC		DDB1 and CUL4 associated factor 12-like 2							44.0	46.0	45.0					X																	125299277		2203	4299	6502	SO:0001583	missense	340578							g.chrX:125299277C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.631G>A	X.37:g.125299277C>T	ENSP00000353128:p.Gly211Ser						p.G211S	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	658	-			211			WD 2.		B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.631G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624797	0.46840	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.69806	-0.43;-0.43	4.53	3.57	0.40892	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.34025	N	0.004321	T	0.79221	0.4409	M	0.86097	2.795	0.38198	D	0.940107	D	0.89917	1.0	D	0.97110	1.0	T	0.80246	-0.1462	10	0.44086	T	0.13	.	6.111	0.20100	0.2102:0.5889:0.2008:0.0	.	211	Q5VW00	DC122_HUMAN	S	211	ENSP00000441489:G211S;ENSP00000353128:G211S	ENSP00000353128:G211S	G	-	1	0	DCAF12L2	125126958	1.000000	0.71417	0.786000	0.31890	0.021000	0.10359	6.527000	0.73803	2.167000	0.68274	0.544000	0.68410	GGC		0.647	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
FRMD7	90167	broad.mit.edu	37	X	131212955	131212955	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:131212955G>C	ENST00000298542.4	-	12	1265	c.1090C>G	c.(1090-1092)Caa>Gaa	p.Q364E	FRMD7_ENST00000370879.1_Missense_Mutation_p.Q244E|FRMD7_ENST00000464296.1_Missense_Mutation_p.Q349E	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	364					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTCACATTTTGGTAGTAGCCA	0.488																																						uc004ewn.2																			0				skin(1)	1						c.(1090-1092)CAA>GAA		FERM domain containing 7							165.0	154.0	157.0					X																	131212955		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212955G>C	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1090C>G	X.37:g.131212955G>C	ENSP00000298542:p.Gln364Glu					FRMD7_uc011muy.1_Missense_Mutation_p.Q349E	p.Q364E	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			12	1268	-	Acute lymphoblastic leukemia(192;0.000127)		364					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1090C>G	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	8.071	0.770240	0.15983	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.85556	-2.0;-1.66;-1.77	5.83	4.96	0.65561	.	0.210130	0.30492	N	0.009513	T	0.65471	0.2694	N	0.08118	0	0.21290	N	0.999738	B;B	0.11235	0.004;0.001	B;B	0.13407	0.009;0.004	T	0.50857	-0.8778	10	0.06625	T	0.88	.	7.4282	0.27111	0.078:0.0:0.6217:0.3003	.	349;364	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	E	244;364;349	ENSP00000359916:Q244E;ENSP00000298542:Q364E;ENSP00000417996:Q349E	ENSP00000298542:Q364E	Q	-	1	0	FRMD7	131040636	0.995000	0.38212	0.988000	0.46212	0.413000	0.31143	0.946000	0.29069	1.207000	0.43291	0.600000	0.82982	CAA		0.488	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277	
