#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
ARHGEF16	27237	broad.mit.edu	37	1	3394457	3394457	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:3394457G>A	ENST00000378378.4	+	11	1897	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A202T|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A210T|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A210T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	498					activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTGATCTCTGCCTCCCGGTG	0.622																																						uc001akg.3																			0				ovary(1)	1						c.(1492-1494)GCC>ACC		Rho guanine exchange factor 16							45.0	50.0	48.0					1																	3394457		2181	4283	6464	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3394457G>A	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1492G>A	1.37:g.3394457G>A	ENSP00000367629:p.Ala498Thr					ARHGEF16_uc001aki.2_Missense_Mutation_p.A210T|ARHGEF16_uc001akj.2_Missense_Mutation_p.A210T|ARHGEF16_uc010nzh.1_Missense_Mutation_p.A202T	p.A498T	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	11	1740	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	498					Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1492G>A	CCDS46.2	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939813	0.34189	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.38	2.26	0.28386	Pleckstrin homology-type (1);	0.064498	0.64402	D	0.000007	T	0.67942	0.2947	M	0.70595	2.14	0.40914	D	0.984256	P;P	0.51240	0.943;0.943	P;P	0.52109	0.69;0.69	T	0.67337	-0.5696	10	0.44086	T	0.13	-22.0386	11.4753	0.50295	0.0:0.2558:0.6115:0.1327	.	202;498	B4DJM7;Q5VV41	.;ARHGG_HUMAN	T	498;210;210;202	ENSP00000367629:A498T;ENSP00000367624:A210T;ENSP00000367622:A210T;ENSP00000408887:A202T	ENSP00000367622:A210T	A	+	1	0	ARHGEF16	3384317	0.996000	0.38824	0.103000	0.21229	0.010000	0.07245	2.720000	0.47252	0.178000	0.19917	-0.312000	0.09012	GCC		0.622	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448	
ADCY10	55811	broad.mit.edu	37	1	167814945	167814945	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:167814945G>A	ENST00000367851.4	-	21	3047	c.2863C>T	c.(2863-2865)Cgc>Tgc	p.R955C	ADCY10_ENST00000545172.1_Missense_Mutation_p.R802C|ADCY10_ENST00000367848.1_Missense_Mutation_p.R863C	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	955					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCTAAAAAGCGGGCACATTTC	0.488																																						uc001ger.2																			0				central_nervous_system(2)|ovary(1)	3						c.(2863-2865)CGC>TGC		adenylate cyclase 10							121.0	115.0	117.0					1																	167814945		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167814945G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2863C>T	1.37:g.167814945G>A	ENSP00000356825:p.Arg955Cys					ADCY10_uc009wvk.2_Missense_Mutation_p.R863C|ADCY10_uc010plj.1_Missense_Mutation_p.R802C|ADCY10_uc009wvl.2_Missense_Mutation_p.R954C	p.R955C	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			21	3161	-			955					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.2863C>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989926	0.54041	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.32023	1.47;1.47;1.47	5.93	4.03	0.46877	.	0.433433	0.22475	N	0.059563	T	0.30759	0.0775	L	0.50333	1.59	0.34358	D	0.690664	D;D;D	0.89917	1.0;1.0;0.999	D;P;P	0.66196	0.942;0.897;0.791	T	0.14755	-1.0461	9	0.44086	T	0.13	-5.2486	9.6861	0.40100	0.0:0.1537:0.6864:0.1599	.	802;863;955	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	C	802;955;863	ENSP00000441992:R802C;ENSP00000356825:R955C;ENSP00000356822:R863C	ENSP00000356822:R863C	R	-	1	0	ADCY10	166081569	1.000000	0.71417	0.995000	0.50966	0.817000	0.46193	1.812000	0.38952	0.821000	0.34540	0.655000	0.94253	CGC		0.488	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	
KIAA1614	57710	broad.mit.edu	37	1	180904433	180904433	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:180904433G>A	ENST00000367588.4	+	5	1443	c.1388G>A	c.(1387-1389)cGt>cAt	p.R463H	KIAA1614_ENST00000367587.1_Missense_Mutation_p.R84H	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	463										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCGAGTTCCGTCACCTGGAG	0.731																																						uc001gok.2																			0				ovary(3)|skin(1)	4						c.(1387-1389)CGT>CAT		hypothetical protein LOC57710							6.0	9.0	8.0					1																	180904433		1968	4082	6050	SO:0001583	missense	57710							g.chr1:180904433G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1388G>A	1.37:g.180904433G>A	ENSP00000356560:p.Arg463His					KIAA1614_uc001gol.1_Missense_Mutation_p.R84H|KIAA1614_uc001gom.1_Intron	p.R463H	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			5	1455	+			463					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1388G>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714373	0.68730	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.63913	0.35;-0.07	4.84	4.84	0.62591	.	0.066636	0.64402	D	0.000011	T	0.76821	0.4041	L	0.61218	1.895	0.37966	D	0.933112	D	0.89917	1.0	D	0.91635	0.999	T	0.81152	-0.1063	9	0.87932	D	0	-23.1805	16.0774	0.80976	0.0:0.0:1.0:0.0	.	463	Q5VZ46	K1614_HUMAN	H	463;84	ENSP00000356560:R463H;ENSP00000356559:R84H	ENSP00000356559:R84H	R	+	2	0	KIAA1614	179171056	1.000000	0.71417	0.891000	0.34965	0.059000	0.15707	5.261000	0.65496	2.387000	0.81309	0.462000	0.41574	CGT		0.731	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531	
GLUL	2752	broad.mit.edu	37	1	182356407	182356407	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:182356407C>T	ENST00000331872.6	-	3	727	c.187G>A	c.(187-189)Gat>Aat	p.D63N	GLUL_ENST00000311223.5_Missense_Mutation_p.D63N|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.D63N|GLUL_ENST00000339526.4_Missense_Mutation_p.D63N	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	63					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	CTAGAGCCATCGAAATTCCAC	0.473																																						uc001gpa.1																			0					0						c.(187-189)GAT>AAT		glutamine synthetase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						87.0	89.0	89.0					1																	182356407		2203	4300	6503	SO:0001583	missense	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182356407C>T	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.187G>A	1.37:g.182356407C>T	ENSP00000356537:p.Asp63Asn					GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.D63N|GLUL_uc001gpc.1_Missense_Mutation_p.D63N|GLUL_uc001gpd.1_Missense_Mutation_p.D63N	p.D63N	NM_001033056	NP_001028228	P15104	GLNA_HUMAN			3	399	-			63					Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	37	c.187G>A	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	C	36	5.602330	0.96614	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526;ENST00000435013	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	4.95	4.95	0.65309	Glutamine synthetase, beta-Grasp (4);	0.044403	0.85682	D	0.000000	D	0.91331	0.7266	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93851	0.7145	10	0.87932	D	0	-22.4724	16.7257	0.85421	0.0:1.0:0.0:0.0	.	63	P15104	GLNA_HUMAN	N	63	ENSP00000356537:D63N;ENSP00000307900:D63N;ENSP00000398320:D63N;ENSP00000344958:D63N	ENSP00000307900:D63N	D	-	1	0	GLUL	180623030	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.483000	0.81158	2.270000	0.75569	0.557000	0.71058	GAT		0.473	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065	
RAB3GAP2	25782	broad.mit.edu	37	1	220359030	220359030	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:220359030G>A	ENST00000358951.2	-	18	1949	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	611					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTGAGTGATGTTTCTAAGGC	0.333																																						uc010puk.1																			0				central_nervous_system(1)	1						c.(1831-1833)AAC>AAT		rab3 GTPase-activating protein, non-catalytic							106.0	102.0	104.0					1																	220359030		2203	4298	6501	SO:0001819	synonymous_variant	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220359030G>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1833C>T	1.37:g.220359030G>A						RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Silent_p.N191N	p.N611N	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	18	1997	-			611					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	ENST00000358951.2	37	c.1833C>T	CCDS31028.1																																																																																				0.333	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	
HLX	3142	broad.mit.edu	37	1	221057616	221057616	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:221057616A>G	ENST00000366903.6	+	4	2538	c.1037A>G	c.(1036-1038)gAg>gGg	p.E346G	HLX_ENST00000549319.1_Missense_Mutation_p.E132G	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	346					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AAGGACAAGGAGGCTGGCGAG	0.667																																						uc001hmv.3																			0				ovary(2)	2						c.(1036-1038)GAG>GGG		H2.0-like homeobox							40.0	44.0	43.0					1																	221057616		2203	4300	6503	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057616A>G	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1037A>G	1.37:g.221057616A>G	ENSP00000355870:p.Glu346Gly						p.E346G	NM_021958	NP_068777	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	1494	+			346					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1037A>G	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486541	0.84854	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	T;T;T	0.54675	0.68;0.56;0.56	5.17	4.01	0.46588	.	0.347222	0.23640	N	0.046024	T	0.36248	0.0960	L	0.34521	1.04	0.45183	D	0.998198	P	0.40000	0.698	B	0.29862	0.108	T	0.16276	-1.0408	10	0.45353	T	0.12	-31.9242	11.4232	0.49993	0.8485:0.1515:0.0:0.0	.	346	Q14774	HLX_HUMAN	G	346;79;132	ENSP00000355870:E346G;ENSP00000408248:E79G;ENSP00000449882:E132G	ENSP00000355870:E346G	E	+	2	0	HLX	219124239	1.000000	0.71417	0.993000	0.49108	0.808000	0.45660	6.849000	0.75414	0.890000	0.36211	0.459000	0.35465	GAG		0.667	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958	
HHIPL2	79802	broad.mit.edu	37	1	222705452	222705452	+	Splice_Site	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:222705452G>A	ENST00000343410.6	-	6	1637	c.1579C>T	c.(1579-1581)Cga>Tga	p.R527*		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	527					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCCATAAGTCGACTAGACAAA	0.438																																						uc001hnh.1																			0				ovary(1)	1						c.(1579-1581)CGA>TGA		HHIP-like 2 precursor							51.0	53.0	52.0					1																	222705452		2203	4300	6503	SO:0001630	splice_region_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222705452G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1578-1C>T	1.37:g.222705452G>A							p.R527*	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	6	1637	-			527					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Nonsense_Mutation	SNP	ENST00000343410.6	37	c.1579C>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	39	7.388977	0.98252	.	.	ENSG00000143512	ENST00000343410	.	.	.	5.0	4.09	0.47781	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0315	12.8232	0.57704	0.0796:0.0:0.9204:0.0	.	.	.	.	X	527	.	ENSP00000342118:R527X	R	-	1	2	HHIPL2	220772075	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	6.296000	0.72751	1.091000	0.41335	0.591000	0.81541	CGA		0.438	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	Nonsense_Mutation
RYR2	6262	broad.mit.edu	37	1	237787140	237787151	+	In_Frame_Del	DEL	GATTTCCATGAA	GATTTCCATGAA	-	rs369182325		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:237787140_237787151delGATTTCCATGAA	ENST00000366574.2	+	39	6309_6320	c.5992_6003delGATTTCCATGAA	c.(5992-6003)gatttccatgaadel	p.DFHE1998del	RYR2_ENST00000360064.6_In_Frame_Del_p.DFHE1996del|RYR2_ENST00000542537.1_In_Frame_Del_p.DFHE1982del	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1998	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAACTATTGGATTTCCATGAAGATTTGATGA	0.307																																						uc001hyl.1																			0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5992-6003)GATTTCCATGAAdel		cardiac muscle ryanodine receptor																																				SO:0001651	inframe_deletion	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237787140_237787151delGATTTCCATGAA	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5992_6003delGATTTCCATGAA	1.37:g.237787140_237787151delGATTTCCATGAA	ENSP00000355533:p.Asp1998_Glu2001del						p.DFHE1998del	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		39	6112_6123	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1998_2001			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	In_Frame_Del	DEL	ENST00000366574.2	37	c.5992_6003delGATTTCCATGAA	CCDS55691.1																																																																																				0.307	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237947552	237947552	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:237947552C>T	ENST00000366574.2	+	90	12857	c.12540C>T	c.(12538-12540)ggC>ggT	p.G4180G	RYR2_ENST00000360064.6_Silent_p.G4186G|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.G4164G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4180					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAACGAAGGCGGAGAGAAAG	0.502																																						uc001hyl.1																			0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12538-12540)GGC>GGT		cardiac muscle ryanodine receptor							88.0	92.0	91.0					1																	237947552		1982	4175	6157	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947552C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12540C>T	1.37:g.237947552C>T						RYR2_uc010pya.1_Silent_p.G595G	p.G4180G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12660	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4180					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12540C>T	CCDS55691.1																																																																																				0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
OR9G1	390174	broad.mit.edu	37	11	56467944	56467944	+	Frame_Shift_Del	DEL	C	C	-	rs556450024		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:56467944delC	ENST00000312153.1	+	1	81	c.81delC	c.(79-81)ttcfs	p.F27fs		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGGGCCTCTTCGTGGTGTTCC	0.502																																						uc010rjn.1																			0					0						c.(79-81)TTCfs		olfactory receptor, family 9, subfamily G,							157.0	136.0	143.0					11																	56467944		2201	4296	6497	SO:0001589	frameshift_variant	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56467944delC	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.81delC	11.37:g.56467944delC	ENSP00000309012:p.Phe27fs						p.F27fs	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	81	+			27			Extracellular (Potential).		Q6IEU9|Q8NGQ0	Frame_Shift_Del	DEL	ENST00000312153.1	37	c.81delC	CCDS31536.1																																																																																				0.502	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213	
LRRC55	219527	broad.mit.edu	37	11	56949854	56949854	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:56949854C>T	ENST00000497933.1	+	1	634	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	133					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						ACACTTGGACCTGAGCTACAA	0.582																																						uc001njl.1																			0					0						c.(487-489)CTG>TTG		leucine rich repeat containing 55							38.0	36.0	37.0					11																	56949854		2201	4296	6497	SO:0001819	synonymous_variant	219527					integral to membrane		g.chr11:56949854C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.487C>T	11.37:g.56949854C>T							p.L163L	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			1	634	+			133			LRR 3.		A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	c.487C>T	CCDS31539.1																																																																																				0.582	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210	
OR5AN1	390195	broad.mit.edu	37	11	59132440	59132440	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:59132440G>T	ENST00000313940.2	+	1	556	c.509G>T	c.(508-510)tGt>tTt	p.C170F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	170						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)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTCCACTTCTGTGGGTCTAAT	0.443																																						uc010rks.1																			0				ovary(1)	1						c.(508-510)TGT>TTT		olfactory receptor, family 5, subfamily AN,							147.0	134.0	139.0					11																	59132440		2201	4295	6496	SO:0001583	missense	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132440G>T	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.509G>T	11.37:g.59132440G>T	ENSP00000320302:p.Cys170Phe						p.C170F	NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN			1	509	+			170			Extracellular (Potential).		B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	c.509G>T	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511825	0.64522	.	.	ENSG00000176495	ENST00000313940	T	0.00211	8.54	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.00724	0.0024	M	0.89840	3.065	0.40773	D	0.983107	D	0.89917	1.0	D	0.91635	0.999	T	0.67352	-0.5692	10	0.87932	D	0	-31.1953	15.4421	0.75190	0.0:0.0:1.0:0.0	.	170	Q8NGI8	O5AN1_HUMAN	F	170	ENSP00000320302:C170F	ENSP00000320302:C170F	C	+	2	0	OR5AN1	58889016	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.999000	0.63934	2.263000	0.75096	0.655000	0.94253	TGT		0.443	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729	
MMP13	4322	broad.mit.edu	37	11	102822878	102822878	+	Missense_Mutation	SNP	G	G	A	rs147544761	byFrequency	TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:102822878G>A	ENST00000260302.3	-	5	690	c.662C>T	c.(661-663)gCg>gTg	p.A221V	MMP13_ENST00000340273.4_Missense_Mutation_p.A221V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	221	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GAACTCATGCGCAGCAACAAG	0.423													G|||	6	0.00119808	0.0045	0.0	5008	,	,		17489	0.0		0.0	False		,,,				2504	0.0					uc001phl.2																			0				ovary(2)|skin(1)	3						c.(661-663)GCG>GTG		matrix metalloproteinase 13 preproprotein		G	VAL/ALA	3,4401	8.1+/-20.4	0,3,2199	140.0	135.0	137.0		662	5.8	1.0	11	dbSNP_134	137	0,8598		0,0,4299	yes	missense	MMP13	NM_002427.3	64	0,3,6498	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	221/472	102822878	3,12999	2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102822878G>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.662C>T	11.37:g.102822878G>A	ENSP00000260302:p.Ala221Val						p.A221V	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	5	690	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	221					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.662C>T	CCDS8324.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	36	5.655859	0.96724	6.81E-4	0.0	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.21543	2.0;2.0	5.75	5.75	0.90469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.093477	0.64402	D	0.000001	T	0.48277	0.1491	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.32955	-0.9887	10	0.59425	D	0.04	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	221	P45452	MMP13_HUMAN	V	221	ENSP00000260302:A221V;ENSP00000339672:A221V	ENSP00000260302:A221V	A	-	2	0	MMP13	102328088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.946000	0.87746	2.866000	0.98385	0.650000	0.86243	GCG		0.423	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	
GRIN2B	2904	broad.mit.edu	37	12	13724856	13724856	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:13724856T>C	ENST00000609686.1	-	10	2262	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	685					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGGGCACGGTCCCAAAGCGG	0.493																																						uc001rbt.2																			0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2053-2055)ACC>GCC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						127.0	103.0	111.0					12																	13724856		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13724856T>C		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2053A>G	12.37:g.13724856T>C	ENSP00000477455:p.Thr685Ala						p.T685A	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			10	2232	-			685			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2053A>G	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	T	31	5.061494	0.93846	.	.	ENSG00000150086	ENST00000279593	T	0.28255	1.62	5.73	5.73	0.89815	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	L	0.59967	1.855	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.55016	-0.8206	10	0.87932	D	0	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	685	Q13224	NMDE2_HUMAN	A	685	ENSP00000279593:T685A	ENSP00000279593:T685A	T	-	1	0	GRIN2B	13616123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.992000	0.88273	2.308000	0.77769	0.533000	0.62120	ACC		0.493	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
NR4A1	3164	broad.mit.edu	37	12	52448556	52448556	+	Silent	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:52448556G>T	ENST00000243050.1	+	3	758	c.444G>T	c.(442-444)ccG>ccT	p.P148P	NR4A1_ENST00000360284.3_Silent_p.P161P|NR4A1_ENST00000545748.1_Silent_p.P202P|NR4A1_ENST00000394824.2_Silent_p.P148P|NR4A1_ENST00000548232.1_Silent_p.P148P|NR4A1_ENST00000550082.1_Silent_p.P161P|NR4A1_ENST00000394825.1_Silent_p.P148P	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	148					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GCTTCCAGCCGCCCCAGCTCT	0.677																																						uc001rzs.2																			0					0						c.(442-444)CCG>CCT		nuclear receptor subfamily 4, group A, member 1							26.0	31.0	29.0					12																	52448556		2203	4300	6503	SO:0001819	synonymous_variant	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52448556G>T	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.444G>T	12.37:g.52448556G>T						NR4A1_uc010sno.1_Silent_p.P161P|NR4A1_uc001rzr.2_Silent_p.P148P|NR4A1_uc009zmb.1_Silent_p.P148P|NR4A1_uc001rzt.2_Silent_p.P148P|NR4A1_uc009zmc.2_5'Flank	p.P148P	NM_002135	NP_002126	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	3	758	+			148					B4DML7|Q15627|Q53Y00|Q6IBU8	Silent	SNP	ENST00000243050.1	37	c.444G>T	CCDS8818.1																																																																																				0.677	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2		
ESYT1	23344	broad.mit.edu	37	12	56536179	56536179	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:56536179G>T	ENST00000394048.5	+	25	2967	c.2703G>T	c.(2701-2703)caG>caT	p.Q901H	ESYT1_ENST00000267113.4_Missense_Mutation_p.Q911H|ESYT1_ENST00000550878.1_Intron|ESYT1_ENST00000541590.1_Missense_Mutation_p.Q911H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	901					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GCAGTGGTCAGGGGCAGGTGC	0.622																																						uc001sjq.2																			0				ovary(4)|skin(1)	5						c.(2701-2703)CAG>CAT		extended synaptotagmin-like protein 1							49.0	44.0	46.0					12																	56536179		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56536179G>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2703G>T	12.37:g.56536179G>T	ENSP00000377612:p.Gln901His					ESYT1_uc001sjr.2_Missense_Mutation_p.Q911H	p.Q901H	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN			25	2753	+			901					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2703G>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056639	0.55325	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.71461	-0.57;-0.57;-0.57	4.55	-1.05	0.10036	C2 calcium/lipid-binding domain, CaLB (1);	0.310806	0.27739	N	0.018042	T	0.69097	0.3073	L	0.46157	1.445	0.31324	N	0.685726	D;P	0.62365	0.991;0.937	P;B	0.54060	0.741;0.421	T	0.71533	-0.4564	10	0.44086	T	0.13	-9.4005	11.4591	0.50199	0.205:0.0:0.795:0.0	.	911;901	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	H	901;855;911;911	ENSP00000377612:Q901H;ENSP00000267113:Q911H;ENSP00000445952:Q911H	ENSP00000267113:Q911H	Q	+	3	2	ESYT1	54822446	1.000000	0.71417	0.929000	0.37066	0.924000	0.55760	0.385000	0.20685	-0.124000	0.11724	-0.367000	0.07326	CAG		0.622	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292	
RNFT2	84900	broad.mit.edu	37	12	117217036	117217036	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:117217036C>T	ENST00000257575.4	+	7	998	c.765C>T	c.(763-765)gaC>gaT	p.D255D	RNU6-558P_ENST00000364512.1_RNA|RNFT2_ENST00000392549.2_Silent_p.D255D|RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Silent_p.D255D			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	255						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		AGATGCTGGACTTCTTTGACC	0.547																																						uc009zwn.2																			0					0						c.(763-765)GAC>GAT		transmembrane protein 118 isoform 1							229.0	200.0	210.0					12																	117217036		2203	4300	6503	SO:0001819	synonymous_variant	84900					integral to membrane	zinc ion binding	g.chr12:117217036C>T	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.765C>T	12.37:g.117217036C>T						RNFT2_uc001twb.3_Silent_p.D255D|RNFT2_uc001twa.3_Silent_p.D165D|RNFT2_uc001twc.3_Silent_p.D3D	p.D255D	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.034)	7	998	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		255			Extracellular (Potential).		E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	c.765C>T	CCDS44987.1																																																																																				0.547	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814	
VSIG10	54621	broad.mit.edu	37	12	118517207	118517207	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:118517207C>A	ENST00000359236.5	-	4	1145	c.869G>T	c.(868-870)tGt>tTt	p.C290F	VSIG10_ENST00000536905.1_5'Flank	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	290	Ig-like C2-type 3.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTTGTAACACACTTGAACTT	0.542																																						uc001tws.2																			0					0						c.(868-870)TGT>TTT		V-set and immunoglobulin domain containing 10							82.0	90.0	88.0					12																	118517207		2112	4226	6338	SO:0001583	missense	54621					integral to membrane		g.chr12:118517207C>A		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.869G>T	12.37:g.118517207C>A	ENSP00000352172:p.Cys290Phe						p.C290F	NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN			4	1203	-			290			Ig-like C2-type 3.|Extracellular (Potential).		Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	c.869G>T	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378260	0.82682	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.60920	0.15;0.15	6.0	6.0	0.97389	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000182	T	0.80105	0.4562	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81191	-0.1045	10	0.87932	D	0	-22.5737	20.5469	0.99278	0.0:1.0:0.0:0.0	.	290	Q8N0Z9	VSI10_HUMAN	F	290;189	ENSP00000352172:C290F;ENSP00000442861:C189F	ENSP00000352172:C290F	C	-	2	0	VSIG10	117001590	0.999000	0.42202	0.970000	0.41538	0.793000	0.44817	5.275000	0.65575	2.850000	0.98022	0.650000	0.86243	TGT		0.542	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086	
CCDC60	160777	broad.mit.edu	37	12	119942953	119942953	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:119942953G>A	ENST00000327554.2	+	7	1193	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	243										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTCTGAGTCGGGCCAGTGGG	0.557																																						uc001txe.2																			0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(727-729)CGG>CAG		coiled-coil domain containing 60							91.0	99.0	97.0					12																	119942953		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119942953G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.728G>A	12.37:g.119942953G>A	ENSP00000333374:p.Arg243Gln					uc001txf.2_Intron	p.R243Q	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	7	1193	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		243						Missense_Mutation	SNP	ENST00000327554.2	37	c.728G>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411833	0.42817	.	.	ENSG00000183273	ENST00000327554	T	0.27890	1.64	5.07	5.07	0.68467	.	0.300925	0.23881	N	0.043657	T	0.49626	0.1568	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.39781	-0.9597	9	.	.	.	-26.1102	13.9816	0.64308	0.0:0.0:1.0:0.0	.	243	Q8IWA6	CCD60_HUMAN	Q	243	ENSP00000333374:R243Q	.	R	+	2	0	CCDC60	118427336	0.984000	0.35163	0.972000	0.41901	0.040000	0.13550	4.489000	0.60309	2.340000	0.79590	0.650000	0.86243	CGG		0.557	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499	
RNF17	56163	broad.mit.edu	37	13	25425654	25425654	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:25425654C>T	ENST00000255324.5	+	24	3317	c.3265C>T	c.(3265-3267)Cgt>Tgt	p.R1089C	RNF17_ENST00000339524.3_Missense_Mutation_p.R141C|RNF17_ENST00000381921.1_Missense_Mutation_p.R1089C	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1089					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAAAGGAGAGCGTGTTGATGT	0.333																																						uc001upr.2																			0				ovary(1)|skin(1)	2						c.(3265-3267)CGT>TGT		ring finger protein 17							108.0	108.0	108.0					13																	25425654		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25425654C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3265C>T	13.37:g.25425654C>T	ENSP00000255324:p.Arg1089Cys					RNF17_uc010tdd.1_Missense_Mutation_p.R948C|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.R1085C|RNF17_uc001ups.2_Missense_Mutation_p.R1028C|RNF17_uc010aac.2_Missense_Mutation_p.R287C|RNF17_uc010aad.2_Missense_Mutation_p.R141C	p.R1089C	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	24	3306	+		Lung SC(185;0.0225)|Breast(139;0.077)	1089					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.3265C>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351472	0.24512	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.22134	3.56;3.57;2.79;1.97	4.51	0.839	0.18907	.	0.493083	0.20197	N	0.097166	T	0.12008	0.0292	L	0.31294	0.92	0.32360	N	0.557361	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.08806	-1.0704	10	0.37606	T	0.19	-0.7222	4.2917	0.10881	0.0:0.3874:0.169:0.4436	.	1085;141;1089;1089	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	C	1089;1089;948;413;141	ENSP00000255324:R1089C;ENSP00000371346:R1089C;ENSP00000388892:R413C;ENSP00000344776:R141C	ENSP00000255324:R1089C	R	+	1	0	RNF17	24323654	0.001000	0.12720	0.656000	0.29637	0.988000	0.76386	-0.421000	0.07053	0.246000	0.21394	0.591000	0.81541	CGT		0.333	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
PCDH9	5101	broad.mit.edu	37	13	67205380	67205380	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:67205380T>C	ENST00000377865.2	-	3	3436	c.3302A>G	c.(3301-3303)aAg>aGg	p.K1101R	PCDH9_ENST00000328454.5_Missense_Mutation_p.K1067R|RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000544246.1_Missense_Mutation_p.K1101R|PCDH9_ENST00000456367.1_Missense_Mutation_p.K1067R			Q9HC56	PCDH9_HUMAN	protocadherin 9	1101					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCAGTCCTCTTGTCCGGAGA	0.512																																						uc001vik.2																			0				ovary(4)|pancreas(1)|skin(1)	6						c.(3301-3303)AAG>AGG		protocadherin 9 isoform 1 precursor							112.0	110.0	111.0					13																	67205380		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67205380T>C	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3302A>G	13.37:g.67205380T>C	ENSP00000367096:p.Lys1101Arg					PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Missense_Mutation_p.K1067R|PCDH9_uc010thl.1_Missense_Mutation_p.K1059R	p.K1101R	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	4	3994	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1101			Cytoplasmic (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3302A>G	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.692728	0.68271	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.54279	0.64;0.64;0.58;0.58	5.49	4.29	0.51040	.	0.462315	0.22876	N	0.054572	T	0.43612	0.1255	L	0.29908	0.895	0.33662	D	0.609859	P;P;P	0.49961	0.86;0.914;0.93	B;B;B	0.43301	0.237;0.415;0.304	T	0.59836	-0.7379	10	0.87932	D	0	.	12.5874	0.56424	0.0:0.0:0.139:0.861	.	1059;1067;1101	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	R	1101;1101;1067;1067	ENSP00000442186:K1101R;ENSP00000367096:K1101R;ENSP00000401699:K1067R;ENSP00000332060:K1067R	ENSP00000332060:K1067R	K	-	2	0	PCDH9	66103381	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.661000	0.83786	0.891000	0.36235	0.533000	0.62120	AAG		0.512	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
KLF12	11278	broad.mit.edu	37	13	74387376	74387376	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:74387376C>T	ENST00000377669.2	-	4	745	c.719G>A	c.(718-720)aGt>aAt	p.S240N	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.S240N	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	240					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		ATCATCATCACTGTCACTTTT	0.423																																						uc001vjf.2																			0				ovary(1)	1						c.(718-720)AGT>AAT		Kruppel-like factor 12							242.0	210.0	221.0					13																	74387376		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74387376C>T	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.719G>A	13.37:g.74387376C>T	ENSP00000366897:p.Ser240Asn					KLF12_uc010aeq.2_Missense_Mutation_p.S240N|KLF12_uc001vjg.3_Missense_Mutation_p.S240N	p.S240N	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	5	941	-		Prostate(6;0.00217)|Breast(118;0.0838)	240					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.719G>A	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198333	0.94997	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.06608	3.28;3.28	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.13372	0.0324	L	0.29908	0.895	0.80722	D	1	D	0.54601	0.967	P	0.57776	0.827	T	0.06285	-1.0835	10	0.32370	T	0.25	.	18.6836	0.91556	0.0:1.0:0.0:0.0	.	240	Q9Y4X4	KLF12_HUMAN	N	240	ENSP00000366897:S240N;ENSP00000366894:S240N	ENSP00000344057:S240N	S	-	2	0	KLF12	73285377	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.721000	0.93114	0.655000	0.94253	AGT		0.423	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249	
HEATR5A	25938	broad.mit.edu	37	14	31852888	31852888	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr14:31852888C>T	ENST00000389961.3	-	9	1416	c.1417G>A	c.(1417-1419)Gca>Aca	p.A473T	HEATR5A_ENST00000439348.1_Missense_Mutation_p.A473T|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A186T|HEATR5A_ENST00000543095.2_Missense_Mutation_p.A479T|HEATR5A_ENST00000404677.3_Missense_Mutation_p.A479T			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	473										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAGGGTAATGCCACGGCAATG	0.468																																						uc001wrf.3																			0				ovary(1)	1						c.(556-558)GCA>ACA		HEAT repeat containing 5A							168.0	159.0	162.0					14																	31852888		2007	4179	6186	SO:0001583	missense	25938						binding	g.chr14:31852888C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1417G>A	14.37:g.31852888C>T	ENSP00000374611:p.Ala473Thr					HEATR5A_uc010ami.2_Missense_Mutation_p.A84T|HEATR5A_uc001wrg.1_Missense_Mutation_p.A68T|HEATR5A_uc010tpk.1_Missense_Mutation_p.A479T	p.A186T	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	4	633	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		473					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.556G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.1|21.1|21.1	4.091198|4.091198|4.091198	0.76756|0.76756|0.76756	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366|ENST00000538864	T;T;T;T;T|.|.	0.08282|.|.	3.11;3.11;3.11;3.11;3.11|.|.	5.89|5.89|5.89	5.89|5.89|5.89	0.94794|0.94794|0.94794	Armadillo-like helical (1);Armadillo-type fold (1);|.|.	0.179261|.|.	0.47852|.|.	D|.|.	0.000219|.|.	T|T|.	0.75903|0.75903|.	0.3913|0.3913|.	M|M|M	0.78285|0.78285|0.78285	2.405|2.405|2.405	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	D;D;D|.|.	0.67145|.|.	0.957;0.996;0.97|.|.	P;D;P|.|.	0.65874|.|.	0.597;0.939;0.857|.|.	T|T|.	0.75816|0.75816|.	-0.3184|-0.3184|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	15.022|15.022|15.022	0.71637|0.71637|0.71637	0.1422:0.8578:0.0:0.0|0.1422:0.8578:0.0:0.0|0.1422:0.8578:0.0:0.0	.|.|.	479;473;473|.|.	B5MC49;Q86XA9-2;Q86XA9|.|.	.;.;HTR5A_HUMAN|.|.	T|D|X	473;473;186;479;479|121|106	ENSP00000374611:A473T;ENSP00000405407:A473T;ENSP00000408681:A186T;ENSP00000437968:A479T;ENSP00000384646:A479T|.|.	ENSP00000374611:A473T|.|.	A|G|W	-|-|-	1|2|3	0|0|0	HEATR5A|HEATR5A|HEATR5A	30922639|30922639|30922639	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.253000|0.253000|0.253000	0.25986|0.25986|0.25986	5.843000|5.843000|5.843000	0.69424|0.69424|0.69424	2.788000|2.788000|2.788000	0.95919|0.95919|0.95919	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	GCA|GGC|TGG		0.468	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473	
RYR3	6263	broad.mit.edu	37	15	34049760	34049760	+	Missense_Mutation	SNP	G	G	A	rs372740672		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:34049760G>A	ENST00000389232.4	+	60	8738	c.8668G>A	c.(8668-8670)Gga>Aga	p.G2890R	RYR3_ENST00000415757.3_Missense_Mutation_p.G2890R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2890					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAGCAGCAGCGGATATGCCTC	0.512																																						uc001zhi.2																			0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8668-8670)GGA>AGA		ryanodine receptor 3		G	ARG/GLY	0,3848		0,0,1924	76.0	71.0	73.0		8668	5.4	1.0	15		73	1,8295		0,1,4147	no	missense	RYR3	NM_001036.3	125	0,1,6071	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	2890/4871	34049760	1,12143	1924	4148	6072	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34049760G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8668G>A	15.37:g.34049760G>A	ENSP00000373884:p.Gly2890Arg					RYR3_uc010bar.2_Missense_Mutation_p.G2890R	p.G2890R	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	60	8738	+		all_lung(180;7.18e-09)	2890			Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8668G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066529	0.93898	0.0	1.21E-4	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98120	-4.73;-4.71	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.98689	0.9560	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	0.973;1.0	P;D	0.83275	0.774;0.996	D	0.99647	1.0990	10	0.87932	D	0	.	19.3887	0.94570	0.0:0.0:1.0:0.0	.	2890;2890	Q15413-2;Q15413	.;RYR3_HUMAN	R	2890	ENSP00000373884:G2890R;ENSP00000399610:G2890R	ENSP00000354735:G2890R	G	+	1	0	RYR3	31837052	1.000000	0.71417	0.996000	0.52242	0.906000	0.53458	9.569000	0.98170	2.826000	0.97356	0.655000	0.94253	GGA		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
SPTBN5	51332	broad.mit.edu	37	15	42162053	42162053	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:42162053G>A	ENST00000320955.6	-	32	6066	c.5839C>T	c.(5839-5841)Cgc>Tgc	p.R1947C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1947					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GTGCGGAAGCGGGCCAGGAGG	0.682																																						uc001zos.2																			0				ovary(1)|central_nervous_system(1)	2						c.(5734-5736)CGC>TGC		spectrin, beta, non-erythrocytic 5							7.0	8.0	7.0					15																	42162053		2112	4133	6245	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42162053G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5839C>T	15.37:g.42162053G>A	ENSP00000317790:p.Arg1947Cys						p.R1912C	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	32	6067	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1947			Spectrin 16.			Missense_Mutation	SNP	ENST00000320955.6	37	c.5734C>T		.	.	.	.	.	.	.	.	.	.	.	17.25	3.340803	0.60963	.	.	ENSG00000137877	ENST00000320955	T	0.53640	0.61	4.85	3.87	0.44632	.	0.822657	0.11032	N	0.607078	T	0.62551	0.2437	M	0.68593	2.085	0.09310	N	1	D	0.76494	0.999	P	0.57679	0.825	T	0.54603	-0.8269	10	0.87932	D	0	.	13.9329	0.64007	0.0:0.1678:0.8322:0.0	.	1947	Q9NRC6	SPTN5_HUMAN	C	1947	ENSP00000317790:R1947C	ENSP00000317790:R1947C	R	-	1	0	SPTBN5	39949345	0.968000	0.33430	0.737000	0.30932	0.757000	0.42996	1.780000	0.38634	2.248000	0.74166	0.561000	0.74099	CGC		0.682	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
GALK2	2585	broad.mit.edu	37	15	49620177	49620177	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:49620177A>G	ENST00000560031.1	+	10	1505	c.1198A>G	c.(1198-1200)Act>Gct	p.T400A	GALK2_ENST00000396509.2_Missense_Mutation_p.T376A|GALK2_ENST00000543495.1_3'UTR|GALK2_ENST00000544523.1_Missense_Mutation_p.T376A|GALK2_ENST00000327171.3_Missense_Mutation_p.T389A|GALK2_ENST00000559454.1_Missense_Mutation_p.T376A			Q01415	GALK2_HUMAN	galactokinase 2	400					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GTCACGACTTACTGGAGCAGG	0.438																																						uc001zxj.1																			0				breast(1)	1						c.(1198-1200)ACT>GCT		galactokinase 2 isoform 1							93.0	94.0	94.0					15																	49620177		2196	4295	6491	SO:0001583	missense	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49620177A>G		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.1198A>G	15.37:g.49620177A>G	ENSP00000453129:p.Thr400Ala					GALK2_uc001zxi.1_Missense_Mutation_p.T389A|GALK2_uc010ufb.1_Missense_Mutation_p.T376A|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Missense_Mutation_p.T376A	p.T400A	NM_002044	NP_002035	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	10	1296	+		all_lung(180;0.000325)	400					Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	c.1198A>G	CCDS42034.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.782135	0.90282	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	D;D	0.91351	-2.83;-2.83	5.54	5.54	0.83059	GHMP kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96907	0.8990	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98130	1.0430	10	0.87932	D	0	-6.8184	15.8465	0.78895	1.0:0.0:0.0:0.0	.	400;389	Q01415;Q7Z4Q4	GALK2_HUMAN;.	A	389;400;376	ENSP00000316632:T389A;ENSP00000440312:T376A	ENSP00000316632:T389A	T	+	1	0	GALK2	47407469	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.139000	0.94554	2.326000	0.78906	0.533000	0.62120	ACT		0.438	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1		
SLC24A1	9187	broad.mit.edu	37	15	65917215	65917215	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:65917215C>A	ENST00000261892.6	+	2	1084	c.797C>A	c.(796-798)gCa>gAa	p.A266E	SLC24A1_ENST00000546330.1_Missense_Mutation_p.A266E|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A266E|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A266E|SLC24A1_ENST00000537259.1_Missense_Mutation_p.A266E|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A266E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	266					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGGTAGAAGCAAACGTCTTG	0.473																																						uc010ujf.1																			0					0						c.(796-798)GCA>GAA		solute carrier family 24							102.0	94.0	96.0					15																	65917215		1880	4109	5989	SO:0001583	missense	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65917215C>A	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.797C>A	15.37:g.65917215C>A	ENSP00000261892:p.Ala266Glu					SLC24A1_uc010ujd.1_Missense_Mutation_p.A266E|SLC24A1_uc010uje.1_Missense_Mutation_p.A266E|SLC24A1_uc010ujg.1_Missense_Mutation_p.A266E|SLC24A1_uc010ujh.1_Missense_Mutation_p.A266E	p.A266E	NM_004727	NP_004718	O60721	NCKX1_HUMAN			2	1084	+			266			Extracellular (Potential).		O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	c.797C>A	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449862	0.63290	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.62639	0.25;0.03;0.03;0.02;0.01;0.03	4.89	1.58	0.23477	.	0.604415	0.15374	N	0.265672	T	0.40067	0.1102	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.32467	0.0;0.0;0.0;0.372;0.255	B;B;B;B;B	0.32677	0.001;0.0;0.0;0.15;0.071	T	0.32268	-0.9913	10	0.72032	D	0.01	.	5.1524	0.15017	0.1858:0.6782:0.0:0.136	.	266;266;266;266;266	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	E	266	ENSP00000439693:A266E;ENSP00000261892:A266E;ENSP00000341837:A266E;ENSP00000445163:A266E;ENSP00000381991:A266E;ENSP00000439190:A266E	ENSP00000261892:A266E	A	+	2	0	SLC24A1	63704268	0.001000	0.12720	0.013000	0.15412	0.988000	0.76386	0.085000	0.14912	0.685000	0.31468	0.655000	0.94253	GCA		0.473	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727	
MYO15A	51168	broad.mit.edu	37	17	18052554	18052554	+	Silent	SNP	G	G	A	rs377504192		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:18052554G>A	ENST00000205890.5	+	34	7319	c.6981G>A	c.(6979-6981)tcG>tcA	p.S2327S	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2327	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTGGGACTCGGATGAGGACA	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18571	0.0		0.0	False		,,,				2504	0.0					uc010vxh.1																			0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(6979-6981)TCG>TCA		myosin XV		G		1,4013		0,1,2006	47.0	49.0	48.0		6981	-7.5	0.5	17		48	0,8348		0,0,4174	no	coding-synonymous	MYO15A	NM_016239.3		0,1,6180	AA,AG,GG		0.0,0.0249,0.0081		2327/3531	18052554	1,12361	2007	4174	6181	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18052554G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6981G>A	17.37:g.18052554G>A							p.S2327S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			33	7319	+	all_neural(463;0.228)		2327			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.6981G>A	CCDS42271.1																																																																																				0.537	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
MYO1D	4642	broad.mit.edu	37	17	31107790	31107790	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:31107790C>T	ENST00000318217.5	-	2	412	c.108G>A	c.(106-108)ggG>ggA	p.G36G	MYO1D_ENST00000583621.1_Silent_p.G36G|MYO1D_ENST00000579584.1_Silent_p.G36G|MYO1D_ENST00000394649.4_5'UTR	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	36	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TATAGATGCGCCCTTTTTCAA	0.413																																						uc002hho.1																			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(106-108)GGG>GGA		myosin ID							58.0	51.0	53.0					17																	31107790		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31107790C>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.108G>A	17.37:g.31107790C>T						MYO1D_uc002hhp.1_Silent_p.G36G|MYO1D_uc010wcb.1_Silent_p.G36G	p.G36G	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		2	120	-			36			Myosin head-like.		A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.108G>A	CCDS32615.1																																																																																				0.413	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1		
SLC4A1	6521	broad.mit.edu	37	17	42335421	42335421	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:42335421G>A	ENST00000262418.6	-	11	1370	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	405	Membrane (anion exchange).		Missing (in EL4; increased rigidity of the erythrocyte membrane leading to increased resistance to shear stress and increased resistance to P.falciparum). {ECO:0000269|PubMed:1538405, ECO:0000269|PubMed:1722314}.		anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGGCAGCCAGGACCTGGGGGC	0.597																																						uc002igf.3																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1213-1215)GTC>GTT		solute carrier family 4, anion exchanger, member							79.0	77.0	77.0					17																	42335421		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335421G>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1215C>T	17.37:g.42335421G>A						SLC4A1_uc002igg.3_Silent_p.V405V	p.V405V	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	11	1364	-		Breast(137;0.014)|Prostate(33;0.0181)	405		Missing (in EL4).	Helical; (Potential).|Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.1215C>T	CCDS11481.1																																																																																				0.597	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342	
RBBP8	5932	broad.mit.edu	37	18	20564928	20564928	+	Silent	SNP	T	T	C	rs199995388	byFrequency	TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr18:20564928T>C	ENST00000399722.2	+	8	1035	c.684T>C	c.(682-684)taT>taC	p.Y228Y	RBBP8_ENST00000327155.5_Silent_p.Y228Y|RBBP8_ENST00000399725.2_Silent_p.Y228Y|RBBP8_ENST00000360790.5_Silent_p.Y228Y	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	228					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CTGACACTTATGACCAAAGTC	0.353								Homologous recombination					T|||	2	0.000399361	0.0	0.0014	5008	,	,		12372	0.001		0.0	False		,,,				2504	0.0					uc002ktw.2																			0				ovary(1)|lung(1)|skin(1)	3						c.(682-684)TAT>TAC	Direct_reversal_of_damage|Homologous_recombination	retinoblastoma binding protein 8 isoform a							95.0	94.0	94.0					18																	20564928		2203	4297	6500	SO:0001819	synonymous_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20564928T>C	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.684T>C	18.37:g.20564928T>C						RBBP8_uc002kty.2_Silent_p.Y228Y|RBBP8_uc002ktz.2_Silent_p.Y228Y|RBBP8_uc002kua.2_Silent_p.Y228Y|RBBP8_uc002ktx.1_Silent_p.Y228Y	p.Y228Y	NM_002894	NP_002885	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		8	1015	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		228					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	c.684T>C	CCDS11875.1																																																																																				0.353	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291	
C3	718	broad.mit.edu	37	19	6677900	6677900	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:6677900G>T	ENST00000245907.6	-	41	5077	c.4985C>A	c.(4984-4986)cCc>cAc	p.P1662H	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1662					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGGTCAGTTGGGGCACCCAAA	0.557																																						uc002mfm.2																			0				skin(3)|ovary(1)|pancreas(1)	5						c.(4984-4986)CCC>CAC		complement component 3 precursor							94.0	78.0	83.0					19																	6677900		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6677900G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4985C>A	19.37:g.6677900G>T	ENSP00000245907:p.Pro1662His					C3_uc002mfl.2_Missense_Mutation_p.P398H	p.P1662H	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	41	5047	-			1662					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4985C>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.897893	0.52227	.	.	ENSG00000125730	ENST00000245907	T	0.32753	1.44	5.08	5.08	0.68730	.	0.127712	0.52532	U	0.000062	T	0.60599	0.2281	M	0.85197	2.74	0.41436	D	0.987895	D;D	0.89917	1.0;1.0	D;D	0.85130	0.976;0.997	T	0.67964	-0.5534	10	0.72032	D	0.01	.	15.9919	0.80211	0.0:0.0:1.0:0.0	.	1662;1097	P01024;B4E216	CO3_HUMAN;.	H	1662	ENSP00000245907:P1662H	ENSP00000245907:P1662H	P	-	2	0	C3	6628900	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	5.786000	0.69006	2.372000	0.80975	0.454000	0.30748	CCC		0.557	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
FKBP8	23770	broad.mit.edu	37	19	18649190	18649190	+	Missense_Mutation	SNP	G	G	A	rs201710065		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:18649190G>A	ENST00000596558.2	-	5	714	c.605C>T	c.(604-606)aCg>aTg	p.T202M	FKBP8_ENST00000608443.1_Missense_Mutation_p.T203M|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000453489.2_Missense_Mutation_p.T231M|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000222308.4_Missense_Mutation_p.T202M|FKBP8_ENST00000597960.3_Missense_Mutation_p.T203M			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	202	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GTCCACAGCCGTCTTCAGGGT	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		16088	0.001		0.0	False		,,,				2504	0.0					uc002njk.1																			0				ovary(1)	1						c.(604-606)ACG>ATG		FK506-binding protein 8							23.0	25.0	24.0					19																	18649190		2203	4298	6501	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18649190G>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.605C>T	19.37:g.18649190G>A	ENSP00000472302:p.Thr202Met					FKBP8_uc002nji.1_Missense_Mutation_p.T40M|FKBP8_uc010xqi.1_Missense_Mutation_p.T231M|FKBP8_uc002njj.1_Missense_Mutation_p.T203M|FKBP8_uc002njl.1_Missense_Mutation_p.T203M|FKBP8_uc002njm.1_Missense_Mutation_p.T202M|FKBP8_uc010ebr.1_Missense_Mutation_p.T41M|FKBP8_uc002njn.2_RNA	p.T202M	NM_012181	NP_036313	Q14318	FKBP8_HUMAN			5	718	-			202			PPIase FKBP-type.		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.605C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.847	1.192703	0.21954	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	T;T	0.55052	0.54;0.54	3.79	2.76	0.32466	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.564341	0.18448	N	0.140925	T	0.51941	0.1704	L	0.42744	1.35	0.29703	N	0.839995	D;P;D;D	0.76494	0.997;0.87;0.97;0.999	P;B;B;P	0.55087	0.495;0.095;0.192;0.768	T	0.49532	-0.8930	10	0.49607	T	0.09	-5.1663	5.864	0.18765	0.0972:0.0:0.5937:0.3092	.	231;146;202;203	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	M	203;231	ENSP00000222308:T203M;ENSP00000388891:T231M	ENSP00000222308:T203M	T	-	2	0	FKBP8	18510190	0.740000	0.28207	0.451000	0.26982	0.156000	0.22039	1.214000	0.32419	0.817000	0.34445	0.561000	0.74099	ACG		0.697	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181	
ZNF181	339318	broad.mit.edu	37	19	35232200	35232200	+	Missense_Mutation	SNP	T	T	G	rs143797666	byFrequency	TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:35232200T>G	ENST00000492450.1	+	4	1003	c.914T>G	c.(913-915)gTc>gGc	p.V305G	ZNF181_ENST00000459757.2_Missense_Mutation_p.V304G|ZNF181_ENST00000392232.3_Missense_Mutation_p.V349G			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V241G(4)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTAGCCATGTCTCATCACTT	0.413													T|||	3	0.000599042	0.0	0.0	5008	,	,		22105	0.002		0.0	False		,,,				2504	0.001					uc002nvu.3																			4	Substitution - Missense(4)		lung(2)|endometrium(2)	ovary(1)	1						c.(913-915)GTC>GGC		zinc finger protein 181 isoform 1							91.0	88.0	89.0					19																	35232200		2203	4300	6503	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232200T>G	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.914T>G	19.37:g.35232200T>G	ENSP00000420727:p.Val305Gly					ZNF181_uc010xsa.1_Missense_Mutation_p.V304G|ZNF181_uc010xsb.1_Missense_Mutation_p.V304G|ZNF181_uc010xsc.1_Missense_Mutation_p.V240G	p.V305G	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1377	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		305			C2H2-type 3.		B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.914T>G	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	1.102	-0.660828	0.03454	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.38560	2.43;1.13;1.13	2.89	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16642	0.0400	N	0.10733	0.035	0.09310	N	0.999999	P;B	0.38978	0.652;0.0	B;B	0.30179	0.112;0.001	T	0.04017	-1.0984	9	0.22109	T	0.4	.	5.4169	0.16378	0.2509:0.0:0.0:0.749	.	304;305	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	G	349;304;305;304	ENSP00000376065:V349G;ENSP00000420727:V305G;ENSP00000419435:V304G	ENSP00000376065:V349G	V	+	2	0	ZNF181	39924040	0.000000	0.05858	0.880000	0.34516	0.765000	0.43378	-0.861000	0.04268	1.565000	0.49641	0.402000	0.26972	GTC		0.413	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997	
TMEM147	10430	broad.mit.edu	37	19	36037641	36037641	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:36037641C>T	ENST00000222284.5	+	4	420	c.275C>T	c.(274-276)gCc>gTc	p.A92V	AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.A92V|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000444728.1_RNA|TMEM147_ENST00000392204.2_Missense_Mutation_p.A43V|AD000090.2_ENST00000590717.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	92						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A92V(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCCCGGAATGCCGGCAAGGGA	0.572																																						uc002oaj.1																			1	Substitution - Missense(1)		prostate(1)		0						c.(274-276)GCC>GTC		transmembrane protein 147							103.0	90.0	94.0					19																	36037641		2203	4300	6503	SO:0001583	missense	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36037641C>T	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.275C>T	19.37:g.36037641C>T	ENSP00000222284:p.Ala92Val					uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Missense_Mutation_p.A43V|TMEM147_uc002oak.1_Missense_Mutation_p.P2S	p.A92V	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	372	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		92					A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	c.275C>T	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962852	0.74016	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.44482	0.92;0.92;0.92	5.31	5.31	0.75309	.	0.051996	0.85682	D	0.000000	T	0.36744	0.0978	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	P	0.45998	0.5	T	0.07597	-1.0764	10	0.06236	T	0.91	-13.738	16.5222	0.84320	0.0:1.0:0.0:0.0	.	92	Q9BVK8	TM147_HUMAN	V	43;92;92	ENSP00000376040:A43V;ENSP00000222284:A92V;ENSP00000376041:A92V	ENSP00000222284:A92V	A	+	2	0	TMEM147	40729481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.008000	0.63991	2.764000	0.94973	0.655000	0.94253	GCC		0.572	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635	
NPHS1	4868	broad.mit.edu	37	19	36339161	36339161	+	Missense_Mutation	SNP	C	C	T	rs386833878		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:36339161C>T	ENST00000378910.5	-	10	1308	c.1309G>A	c.(1309-1311)Gta>Ata	p.V437I	NPHS1_ENST00000353632.6_Missense_Mutation_p.V437I	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	437					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.V437I(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACATTTTACGTTCAGGATG	0.582																																						uc002oby.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(4)|skin(1)	5	GRCh37	CI983172	NPHS1	I		c.(1309-1311)GTA>ATA		nephrin precursor							101.0	102.0	102.0					19																	36339161		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36339161C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1309G>A	19.37:g.36339161C>T	ENSP00000368190:p.Val437Ile						p.V437I	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1309	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		437			Extracellular (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.1309G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197676	0.22037	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.92595	-3.07;-3.07	4.71	2.59	0.31030	Immunoglobulin-like fold (1);	0.218004	0.37761	N	0.001960	D	0.94522	0.8236	M	0.63169	1.94	0.28449	N	0.916448	D	0.89917	1.0	D	0.83275	0.996	D	0.89891	0.4037	10	0.56958	D	0.05	-12.7482	13.0041	0.58694	0.0:0.9104:0.0:0.0896	.	437	O60500	NPHN_HUMAN	I	437	ENSP00000368190:V437I;ENSP00000343634:V437I	ENSP00000343634:V437I	V	-	1	0	NPHS1	41031001	0.724000	0.28038	0.831000	0.32960	0.027000	0.11550	1.459000	0.35234	0.609000	0.30018	-1.212000	0.01626	GTA		0.582	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
TTYH1	57348	broad.mit.edu	37	19	54930375	54930375	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:54930375T>C	ENST00000376530.3	+	2	303	c.200T>C	c.(199-201)aTc>aCc	p.I67T	TTYH1_ENST00000301194.4_Missense_Mutation_p.I67T|TTYH1_ENST00000391739.3_Missense_Mutation_p.I116T|TTYH1_ENST00000376531.3_Missense_Mutation_p.I67T	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	67					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTCTACCTCATCCGCTTCTGC	0.682																																						uc002qfq.2																			0					0						c.(199-201)ATC>ACC		tweety 1 isoform 1							57.0	60.0	59.0					19																	54930375		2203	4299	6502	SO:0001583	missense	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54930375T>C	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.200T>C	19.37:g.54930375T>C	ENSP00000365713:p.Ile67Thr					TTYH1_uc010yey.1_Missense_Mutation_p.I116T|TTYH1_uc002qfr.2_Missense_Mutation_p.I67T|TTYH1_uc002qft.2_Missense_Mutation_p.I67T|TTYH1_uc002qfu.1_5'UTR	p.I67T	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	2	292	+	Ovarian(34;0.19)		67			Cytoplasmic (Potential).		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	c.200T>C	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926931	0.73327	.	.	ENSG00000167614	ENST00000444661;ENST00000423529;ENST00000301194;ENST00000376530;ENST00000445095;ENST00000391739;ENST00000376531	T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6	3.5	3.5	0.40072	.	0.167882	0.40640	N	0.001052	T	0.25494	0.0620	L	0.43152	1.355	0.51767	D	0.999934	D;D;D;D	0.69078	0.997;0.985;0.996;0.997	D;P;P;D	0.80764	0.994;0.843;0.888;0.994	T	0.00893	-1.1524	10	0.40728	T	0.16	-22.6537	10.324	0.43783	0.0:0.0:0.0:1.0	.	116;67;67;67	B7Z1H9;Q9H313-2;Q9H313-3;Q9H313	.;.;.;TTYH1_HUMAN	T	39;63;67;67;116;116;67	ENSP00000391282:I63T;ENSP00000301194:I67T;ENSP00000365713:I67T;ENSP00000393592:I116T;ENSP00000375619:I116T;ENSP00000365714:I67T	ENSP00000301194:I67T	I	+	2	0	TTYH1	59622187	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.539000	0.67199	1.611000	0.50210	0.454000	0.30748	ATC		0.682	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1		
ZNF418	147686	broad.mit.edu	37	19	58441862	58441862	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:58441862T>A	ENST00000396147.1	-	3	358	c.67A>T	c.(67-69)Agt>Tgt	p.S23C	ZNF418_ENST00000595830.1_Missense_Mutation_p.S23C|ZNF418_ENST00000599852.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.S44C|ZNF418_ENST00000600989.1_Missense_Mutation_p.S23C	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGAACCTCACTAAGGAGACTC	0.483																																						uc002qqs.1																			0					0						c.(67-69)AGT>TGT		zinc finger protein 418							178.0	166.0	170.0					19																	58441862		2203	4300	6503	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58441862T>A	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.67A>T	19.37:g.58441862T>A	ENSP00000379451:p.Ser23Cys					ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Intron	p.S23C	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	3	359	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	23			KRAB.		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.67A>T	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	15.34	2.805220	0.50315	.	.	ENSG00000196724	ENST00000396147;ENST00000425570	T;T	0.01838	4.61;4.61	2.75	-0.401	0.12407	Krueppel-associated box (4);	.	.	.	.	T	0.07413	0.0187	M	0.68317	2.08	0.09310	N	1	P	0.51537	0.946	P	0.62089	0.898	T	0.19844	-1.0293	9	0.87932	D	0	.	5.9949	0.19489	0.0:0.5032:0.0:0.4968	.	23	Q8TF45	ZN418_HUMAN	C	23;44	ENSP00000379451:S23C;ENSP00000407039:S44C	ENSP00000379451:S23C	S	-	1	0	ZNF418	63133674	0.007000	0.16637	0.047000	0.18901	0.267000	0.26476	0.119000	0.15626	-0.163000	0.10946	0.260000	0.18958	AGT		0.483	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460	
ALMS1	7840	broad.mit.edu	37	2	73677648	73677648	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr2:73677648A>G	ENST00000264448.6	+	8	4102	c.3991A>G	c.(3991-3993)Act>Gct	p.T1331A	ALMS1_ENST00000409009.1_Missense_Mutation_p.T1289A|ALMS1_ENST00000377715.1_Missense_Mutation_p.T1331A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1331	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTACCCTCTACTTTCTACTC	0.453																																						uc002sje.1																			0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(3997-3999)ACT>GCT		Alstrom syndrome 1							135.0	134.0	134.0					2																	73677648		1842	4090	5932	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677648A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3991A>G	2.37:g.73677648A>G	ENSP00000264448:p.Thr1331Ala					ALMS1_uc002sjf.1_Missense_Mutation_p.T1289A|ALMS1_uc002sjg.2_Missense_Mutation_p.T719A|ALMS1_uc002sjh.1_Missense_Mutation_p.T719A	p.T1333A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	4108	+			1331			17.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.3997A>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	7.836	0.720962	0.15372	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.13089	3.52;3.52;2.62	4.52	-7.11	0.01542	.	.	.	.	.	T	0.07052	0.0179	L	0.34521	1.04	0.09310	N	1	B;B;B	0.30146	0.003;0.27;0.003	B;B;B	0.28385	0.001;0.089;0.001	T	0.31110	-0.9955	9	0.28530	T	0.3	.	3.4755	0.07583	0.2299:0.1258:0.4815:0.1628	.	1331;1289;1331	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	A	1289;1331;1331	ENSP00000386627:T1289A;ENSP00000264448:T1331A;ENSP00000366944:T1331A	ENSP00000264448:T1331A	T	+	1	0	ALMS1	73531156	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.472000	0.02341	-1.347000	0.02208	0.529000	0.55759	ACT		0.453	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
INPP1	3628	broad.mit.edu	37	2	191236128	191236128	+	Nonstop_Mutation	SNP	G	G	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr2:191236128G>C	ENST00000322522.4	+	6	1656	c.1200G>C	c.(1198-1200)taG>taC	p.*400Y	INPP1_ENST00000541441.1_Nonstop_Mutation_p.*400Y|INPP1_ENST00000392329.2_Nonstop_Mutation_p.*400Y	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	0					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			CGCATACCTAGAGGAACTCTA	0.493																																					Melanoma(130;184 1743 2185 19805 38428)	uc002ury.3																			0				ovary(1)|lung(1)	2						c.(1198-1200)TAG>TAC		inositol polyphosphate-1-phosphatase	Lithium(DB01356)						38.0	38.0	38.0					2																	191236128		2203	4300	6503	SO:0001578	stop_lost	3628				signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	g.chr2:191236128G>C		CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.1200G>C	2.37:g.191236128G>C	ENSP00000325423:p.*400Tyrext*10					INPP1_uc010fsb.2_Nonstop_Mutation_p.*400Y|INPP1_uc002urx.3_Nonstop_Mutation_p.*400Y	p.*400Y	NM_001128928	NP_001122400	P49441	INPP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		7	1900	+			400						Nonstop_Mutation	SNP	ENST00000322522.4	37	c.1200G>C	CCDS2305.1	.	.	.	.	.	.	.	.	.	.	G	8.147	0.786565	0.16189	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441	.	.	.	4.88	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5527	0.12120	0.1861:0.0:0.64:0.1739	.	.	.	.	Y	400	.	.	X	+	3	2	INPP1	190944373	0.993000	0.37304	0.001000	0.08648	0.053000	0.15095	2.051000	0.41307	0.252000	0.21531	0.555000	0.69702	TAG		0.493	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255932.2		
PROKR2	128674	broad.mit.edu	37	20	5283335	5283335	+	Missense_Mutation	SNP	G	G	A	rs527771034	byFrequency	TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:5283335G>A	ENST00000217270.3	-	2	505	c.506C>T	c.(505-507)aCg>aTg	p.T169M	PROKR2_ENST00000546004.1_Missense_Mutation_p.T169M	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	169					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAAGGAGGCCGTTTGATAATT	0.488										HNSCC(71;0.22)			G|||	2	0.000399361	0.0008	0.0014	5008	,	,		23442	0.0		0.0	False		,,,				2504	0.0					uc010zqw.1																			0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(505-507)ACG>ATG		prokineticin receptor 2							120.0	128.0	125.0					20																	5283335		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283335G>A	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.506C>T	20.37:g.5283335G>A	ENSP00000217270:p.Thr169Met	HNSCC(71;0.22)				PROKR2_uc010zqx.1_Missense_Mutation_p.T169M|PROKR2_uc010zqy.1_Missense_Mutation_p.T169M	p.T169M	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			2	506	-			169			Cytoplasmic (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.506C>T	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791932	0.50102	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.38077	1.16;1.16	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	L	0.61218	1.895	0.58432	D	0.999999	D	0.76494	0.999	D	0.63877	0.919	T	0.54063	-0.8349	10	0.44086	T	0.13	.	15.9344	0.79691	0.0:0.0:1.0:0.0	.	169	Q8NFJ6	PKR2_HUMAN	M	169	ENSP00000440790:T169M;ENSP00000217270:T169M	ENSP00000217270:T169M	T	-	2	0	PROKR2	5231335	1.000000	0.71417	0.923000	0.36655	0.224000	0.24922	9.294000	0.96088	2.354000	0.79902	0.655000	0.94253	ACG		0.488	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773	
SEMG2	6407	broad.mit.edu	37	20	43851266	43851266	+	Silent	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:43851266A>G	ENST00000372769.3	+	2	1083	c.993A>G	c.(991-993)acA>acG	p.T331T		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	331	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACCAGGTAACAATTCATAGTC	0.373																																						uc010ggz.2																			0				skin(1)	1						c.(991-993)ACA>ACG		semenogelin II precursor							79.0	76.0	77.0					20																	43851266		2203	4300	6503	SO:0001819	synonymous_variant	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851266A>G		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.993A>G	20.37:g.43851266A>G						SEMG2_uc002xnk.2_Silent_p.T331T|SEMG2_uc002xnl.2_Silent_p.T331T	p.T331T	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	1050	+		Myeloproliferative disorder(115;0.0122)	331			Repeat-rich region.|4 X 60 AA tandem repeats, type I.		Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	c.993A>G	CCDS13346.1																																																																																				0.373	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008	
WFDC8	90199	broad.mit.edu	37	20	44180784	44180784	+	Missense_Mutation	SNP	G	G	A	rs371165838		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:44180784G>A	ENST00000357199.4	-	6	685	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	WFDC8_ENST00000289953.2_Missense_Mutation_p.R203C	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	203	WAP 3. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				AAGGGCTTGCGTGGGCAGAAA	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19065	0.0		0.0	False		,,,				2504	0.0					uc002xow.2																			0					0						c.(607-609)CGC>TGC		WAP four-disulfide core domain 8 precursor		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	97.0	103.0		607,607	1.2	0.0	20		103	0,8600		0,0,4300	no	missense,missense	WFDC8	NM_130896.2,NM_181510.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	203/242,203/242	44180784	1,13005	2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44180784G>A	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.607C>T	20.37:g.44180784G>A	ENSP00000361735:p.Arg203Cys					WFDC8_uc002xox.2_Missense_Mutation_p.R203C	p.R203C	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN			6	686	-		Myeloproliferative disorder(115;0.0122)	203			WAP 3.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.607C>T	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	G	9.731	1.162309	0.21538	2.27E-4	0.0	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.72942	-0.7;-0.7	4.42	1.16	0.20824	Whey acidic protein, 4-disulphide core (4);	1.994410	0.02086	N	0.052769	T	0.81133	0.4759	M	0.81341	2.54	0.09310	N	1	D	0.69078	0.997	P	0.57846	0.828	T	0.55617	-0.8113	10	0.52906	T	0.07	.	5.0509	0.14508	0.1021:0.0:0.4901:0.4078	.	203	Q8IUA0	WFDC8_HUMAN	C	203	ENSP00000361735:R203C;ENSP00000289953:R203C	ENSP00000289953:R203C	R	-	1	0	WFDC8	43614198	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	-0.392000	0.07314	0.159000	0.19401	0.551000	0.68910	CGC		0.423	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1		
DPM1	8813	broad.mit.edu	37	20	49575846	49575846	+	5'Flank	SNP	C	C	T	rs372128666		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:49575846C>T	ENST00000371588.5	-	0	0				DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.P156L|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GAATGCGTGCCGTACACTCAG	0.657																																						uc002xvy.1																			0				skin(2)|ovary(1)	3						c.(466-468)CCG>CTG		molybdenum cofactor synthesis 3		C	LEU/PRO	0,4406		0,0,2203	51.0	50.0	50.0		467	5.8	1.0	20		50	1,8599		0,1,4299	no	missense	MOCS3	NM_014484.3	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	156/461	49575846	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49575846C>T	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575846C>T	Exception_encountered					DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.P156L	NM_014484	NP_055299	O95396	MOCS3_HUMAN			1	484	+			156					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.467C>T	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.856700	0.51376	0.0	1.16E-4	ENSG00000124217	ENST00000244051	T	0.30448	1.53	5.79	5.79	0.91817	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.053947	0.85682	D	0.000000	T	0.23532	0.0569	N	0.19112	0.55	0.80722	D	1	B	0.21688	0.059	B	0.19391	0.025	T	0.05750	-1.0866	9	.	.	.	-11.0961	19.6358	0.95733	0.0:1.0:0.0:0.0	.	156	O95396	MOCS3_HUMAN	L	156	ENSP00000244051:P156L	.	P	+	2	0	MOCS3	49009253	0.989000	0.36119	0.957000	0.39632	0.784000	0.44337	3.387000	0.52501	2.746000	0.94184	0.561000	0.74099	CCG		0.657	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859	
UMODL1	89766	broad.mit.edu	37	21	43496188	43496188	+	Missense_Mutation	SNP	G	G	C	rs571308622		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr21:43496188G>C	ENST00000408910.2	+	2	151	c.151G>C	c.(151-153)Gtg>Ctg	p.V51L	UMODL1_ENST00000408989.2_Missense_Mutation_p.V51L|UMODL1_ENST00000400424.2_5'UTR|UMODL1_ENST00000400427.1_5'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	51	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTGGAGGCCGTGCAGACGTC	0.587																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1																			0				ovary(2)|skin(1)	3						c.(151-153)GTG>CTG		uromodulin-like 1 isoform 1 precursor							100.0	110.0	107.0					21																	43496188		2030	4182	6212	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43496188G>C		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.151G>C	21.37:g.43496188G>C	ENSP00000386147:p.Val51Leu					UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Missense_Mutation_p.V51L|uc002zah.1_RNA	p.V51L	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			2	151	+			51			Extracellular (Potential).|EMI.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.151G>C	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	8.984	0.975947	0.18736	.	.	ENSG00000177398	ENST00000408989;ENST00000408910	T;T	0.44083	0.93;0.93	4.44	-0.108	0.13588	EMI domain (2);	1.336490	0.05361	N	0.533709	T	0.38026	0.1025	L	0.27053	0.805	0.09310	N	1	P;P	0.52170	0.951;0.858	P;P	0.50314	0.637;0.541	T	0.33854	-0.9852	10	0.46703	T	0.11	-10.6549	6.4601	0.21952	0.1003:0.0:0.2753:0.6244	.	51;51	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	L	51	ENSP00000386126:V51L;ENSP00000386147:V51L	ENSP00000386147:V51L	V	+	1	0	UMODL1	42369257	0.154000	0.22792	0.001000	0.08648	0.063000	0.16089	0.362000	0.20284	0.138000	0.18790	0.655000	0.94253	GTG		0.587	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
CAV3	859	broad.mit.edu	37	3	8787341	8787341	+	Missense_Mutation	SNP	G	G	A	rs112626848		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:8787341G>A	ENST00000343849.2	+	2	321	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	CAV3_ENST00000397368.2_Missense_Mutation_p.V82I|SSUH2_ENST00000478513.1_5'Flank|CAV3_ENST00000472766.1_Intron	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	82	Required for interaction with DAG1.				actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GCTGCTGGGCGTCCCACTGGC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17219	0.0		0.0	False		,,,				2504	0.0					uc003bra.2																			0				lung(1)|breast(1)	2						c.(244-246)GTC>ATC		caveolin 3							105.0	80.0	89.0					3																	8787341		2203	4300	6503	SO:0001583	missense	859				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity	g.chr3:8787341G>A	AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"""M-caveolin"""	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.244G>A	3.37:g.8787341G>A	ENSP00000341940:p.Val82Ile					C3orf32_uc003bqz.2_5'Flank|CAV3_uc003brb.2_Missense_Mutation_p.V82I	p.V82I	NM_001234	NP_001225	P56539	CAV3_HUMAN			2	311	+			82			Cytoplasmic (Potential).|Required for interaction with DAG1.		A8K777|Q3T1A4	Missense_Mutation	SNP	ENST00000343849.2	37	c.244G>A	CCDS2569.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.011	-1.692579	0.00731	.	.	ENSG00000182533	ENST00000343849;ENST00000397368	D;D	0.91894	-2.93;-2.93	4.63	2.75	0.32379	.	0.326406	0.31772	N	0.007090	T	0.65407	0.2688	N	0.00436	-1.5	0.33111	D	0.540566	B	0.13594	0.008	B	0.14023	0.01	T	0.66392	-0.5935	10	0.02654	T	1	-22.8487	3.5239	0.07752	0.2631:0.0:0.5553:0.1815	.	82	P56539	CAV3_HUMAN	I	82	ENSP00000341940:V82I;ENSP00000380525:V82I	ENSP00000341940:V82I	V	+	1	0	CAV3	8762341	0.998000	0.40836	0.865000	0.33974	0.030000	0.12068	3.410000	0.52664	1.169000	0.42739	-0.671000	0.03813	GTC		0.587	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207008.2	NM_033337	
RPL32	6161	broad.mit.edu	37	3	12880946	12880946	+	Silent	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:12880946A>G	ENST00000429711.2	-	3	279	c.180T>C	c.(178-180)taT>taC	p.Y60Y	RPL32_ENST00000396953.2_Silent_p.Y60Y|RPL32_ENST00000396957.1_Silent_p.Y60Y|RPL32_ENST00000435983.1_Silent_p.Y60Y|RPL32_ENST00000273223.6_Silent_p.Y78Y|SNORA7A_ENST00000384765.1_RNA	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	60					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TGTTGCTTCCATAACCAATGT	0.483																																						uc003bxl.2																			0				ovary(1)	1						c.(178-180)TAT>TAC		ribosomal protein L32							212.0	214.0	214.0					3																	12880946		2203	4300	6503	SO:0001819	synonymous_variant	6161				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr3:12880946A>G	CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"""L ribosomal proteins"""	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.180T>C	3.37:g.12880946A>G						RPL32_uc003bxm.2_Silent_p.Y60Y|RPL32_uc003bxn.2_Silent_p.Y60Y	p.Y60Y	NM_001007074	NP_001007075	P62910	RL32_HUMAN			2	393	-			60					B2R4Q3|P02433	Silent	SNP	ENST00000429711.2	37	c.180T>C	CCDS2614.1																																																																																				0.483	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	NM_000994	
IQSEC1	9922	broad.mit.edu	37	3	12977752	12977752	+	Missense_Mutation	SNP	G	G	A	rs201771792		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:12977752G>A	ENST00000273221.4	-	3	1022	c.806C>T	c.(805-807)cCg>cTg	p.P269L	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	269					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCCAGGGCCGGTGCCTCCTC	0.642																																						uc003bxt.2																			0				ovary(1)	1						c.(805-807)CCG>CTG		IQ motif and Sec7 domain 1 isoform b							63.0	62.0	63.0					3																	12977752		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12977752G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.806C>T	3.37:g.12977752G>A	ENSP00000273221:p.Pro269Leu					IQSEC1_uc003bxu.3_Missense_Mutation_p.P147L|IQSEC1_uc011auw.1_Missense_Mutation_p.P255L	p.P269L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN			3	815	-			269					O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.806C>T	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	G	3.875	-0.027143	0.07589	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.42513	0.97;0.97	4.86	3.99	0.46301	.	1.220790	0.05365	N	0.534534	T	0.21718	0.0523	.	.	.	0.28471	N	0.915426	P;P;B	0.44776	0.591;0.843;0.261	B;B;B	0.27796	0.058;0.083;0.038	T	0.14337	-1.0476	9	0.28530	T	0.3	.	4.6279	0.12488	0.1785:0.0:0.5982:0.2233	.	255;255;269	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	L	269;255;255	ENSP00000273221:P269L;ENSP00000402299:P255L	ENSP00000273221:P269L	P	-	2	0	IQSEC1	12952752	1.000000	0.71417	0.047000	0.18901	0.002000	0.02628	2.934000	0.48956	1.273000	0.44346	-0.136000	0.14681	CCG		0.642	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869	
ZNF385D	79750	broad.mit.edu	37	3	21606168	21606168	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:21606168C>T	ENST00000281523.2	-	3	692	c.174G>A	c.(172-174)ccG>ccA	p.P58P	ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	58						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTTCTGAATCGGGTCCATCT	0.358																																						uc003cce.2																			0				large_intestine(2)|skin(2)|ovary(1)	5						c.(172-174)CCG>CCA		zinc finger protein 385D							116.0	114.0	115.0					3																	21606168		2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21606168C>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.174G>A	3.37:g.21606168C>T						ZNF385D_uc010hfb.1_RNA	p.P58P	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			3	582	-			58						Silent	SNP	ENST00000281523.2	37	c.174G>A	CCDS2636.1																																																																																				0.358	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
PRR23A	729627	broad.mit.edu	37	3	138724917	138724917	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:138724917G>A	ENST00000383163.2	-	1	193	c.194C>T	c.(193-195)gCg>gTg	p.A65V	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	65										endometrium(3)|kidney(1)|lung(7)	11						GGCACAGCCCGCGGCCAGGAC	0.721																																						uc011bms.1																			0					0						c.(193-195)GCG>GTG		proline rich 23A							8.0	12.0	11.0					3																	138724917		682	1571	2253	SO:0001583	missense	729627							g.chr3:138724917G>A		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.194C>T	3.37:g.138724917G>A	ENSP00000372649:p.Ala65Val						p.A65V	NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN			1	194	-			65						Missense_Mutation	SNP	ENST00000383163.2	37	c.194C>T	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.603205	0.46423	.	.	ENSG00000206260	ENST00000383163	.	.	.	2.65	0.63	0.17693	.	1.656350	0.03654	N	0.241435	T	0.36110	0.0955	L	0.55481	1.735	0.09310	N	1	D	0.58268	0.982	B	0.42522	0.39	T	0.36529	-0.9744	9	0.66056	D	0.02	.	6.8768	0.24151	0.0:0.0:0.5013:0.4987	.	65	A6NEV1	PR23A_HUMAN	V	65	.	ENSP00000372649:A65V	A	-	2	0	PRR23A	140207607	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.073000	0.14640	0.151000	0.19162	0.491000	0.48974	GCG		0.721	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659	
MUC4	4585	broad.mit.edu	37	3	195515160	195515160	+	Silent	SNP	T	T	C	rs200424131	byFrequency	TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:195515160T>C	ENST00000463781.3	-	2	3750	c.3291A>G	c.(3289-3291)gcA>gcG	p.A1097A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.A1097A|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	529					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACCTGTGGATGCTGAGGAAG	0.572																																						uc011bto.1																			0					0						c.(3289-3291)GCA>GCG		mucin 4 isoform a							15.0	10.0	12.0					3																	195515160		672	1562	2234	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515160T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3291A>G	3.37:g.195515160T>C						MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.A1097A	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3751	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.3291A>G	CCDS54700.1																																																																																				0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MAN2B2	23324	broad.mit.edu	37	4	6578364	6578364	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:6578364C>T	ENST00000285599.3	+	2	234	c.198C>T	c.(196-198)cgC>cgT	p.R66R	MAN2B2_ENST00000504248.1_Silent_p.R66R	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	66					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGCTGGCCCGCGGCCAGCAGC	0.627																																						uc003gjf.1																			0				ovary(2)	2						c.(196-198)CGC>CGT		mannosidase, alpha, class 2B, member 2							59.0	62.0	61.0					4																	6578364		2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6578364C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.198C>T	4.37:g.6578364C>T						MAN2B2_uc003gje.1_Silent_p.R66R|MAN2B2_uc011bwf.1_Silent_p.R66R	p.R66R	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN			2	234	+			66					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.198C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	2.107	-0.404625	0.04832	.	.	ENSG00000013288	ENST00000505907	.	.	.	3.89	-7.79	0.01218	.	.	.	.	.	T	0.15089	0.0364	.	.	.	0.24537	N	0.994085	.	.	.	.	.	.	T	0.20840	-1.0263	4	.	.	.	-9.2647	1.1794	0.01842	0.3625:0.1625:0.0955:0.3796	.	.	.	.	V	65	.	.	A	+	2	0	MAN2B2	6629265	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.329000	0.19698	-1.711000	0.01395	-1.056000	0.02311	GCG		0.627	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274	
PCDH7	5099	broad.mit.edu	37	4	30726111	30726111	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:30726111G>T	ENST00000361762.2	+	1	4075	c.3067G>T	c.(3067-3069)Gat>Tat	p.D1023Y	PCDH7_ENST00000543491.1_Missense_Mutation_p.D1023Y	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1023					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGCCGTACAAGATCTACCACC	0.468																																						uc003gsk.1																			0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(3067-3069)GAT>TAT		protocadherin 7 isoform a precursor							98.0	100.0	99.0					4																	30726111		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30726111G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.3067G>T	4.37:g.30726111G>T	ENSP00000355243:p.Asp1023Tyr					PCDH7_uc011bxw.1_Missense_Mutation_p.D976Y|PCDH7_uc011bxx.1_Missense_Mutation_p.D1023Y	p.D1023Y	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	4075	+			1023			Cytoplasmic (Potential).		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.3067G>T	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.72|16.72	3.200685|3.200685	0.58126|0.58126	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.38887|.	1.11;1.11|.	4.96|4.96	4.96|4.96	0.65561|0.65561	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|T	0.71937|0.71937	0.3399|0.3399	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.79108|.	0.979;0.979;0.992|.	T|T	0.69928|0.69928	-0.5012|-0.5012	9|5	0.87932|.	D|.	0|.	.|.	18.0082|18.0082	0.89215|0.89215	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1023;976;1023|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	Y|I	1023;1023;976|712	ENSP00000355243:D1023Y;ENSP00000441802:D1023Y|.	ENSP00000330302:D976Y|.	D|R	+|+	1|2	0|0	PCDH7|PCDH7	30335209|30335209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.263000|9.263000	0.95617|0.95617	2.575000|2.575000	0.86900|0.86900	0.561000|0.561000	0.74099|0.74099	GAT|AGA		0.468	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
KLB	152831	broad.mit.edu	37	4	39435838	39435838	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:39435838G>A	ENST00000257408.4	+	2	931	c.834G>A	c.(832-834)tcG>tcA	p.S278S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	278	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGGCTCACTCGAAAGTTTGGC	0.413																																						uc003gua.2																			0				skin(1)	1						c.(832-834)TCG>TCA		klotho beta							76.0	68.0	71.0					4																	39435838		2203	4300	6503	SO:0001819	synonymous_variant	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39435838G>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.834G>A	4.37:g.39435838G>A						KLB_uc011byj.1_Silent_p.S278S	p.S278S	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			2	931	+			278			Extracellular (Potential).|Glycosyl hydrolase-1 1.		Q2M3K8	Silent	SNP	ENST00000257408.4	37	c.834G>A	CCDS3451.1																																																																																				0.413	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737	
NPFFR2	10886	broad.mit.edu	37	4	73012972	73012972	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:73012972G>T	ENST00000308744.6	+	4	1110	c.1012G>T	c.(1012-1014)Gtc>Ttc	p.V338F	NPFFR2_ENST00000395999.1_Missense_Mutation_p.V239F|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.V236F	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	338					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTCCCTCATTGTCATCATGTA	0.517																																						uc003hgg.2																			0				ovary(2)|central_nervous_system(1)	3						c.(1012-1014)GTC>TTC		neuropeptide FF receptor 2 isoform 1							90.0	77.0	82.0					4																	73012972		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73012972G>T	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1012G>T	4.37:g.73012972G>T	ENSP00000307822:p.Val338Phe					NPFFR2_uc010iig.1_Missense_Mutation_p.V120F|NPFFR2_uc003hgi.2_Missense_Mutation_p.V239F|NPFFR2_uc003hgh.2_Missense_Mutation_p.V236F|NPFFR2_uc003hgj.2_RNA	p.V338F	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1110	+			338			Helical; Name=5; (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1012G>T	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757013	0.49362	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.72942	-0.7;-0.7;-0.7	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.121832	0.37219	N	0.002198	T	0.76248	0.3961	L	0.55743	1.74	0.80722	D	1	P;P	0.47253	0.721;0.892	B;P	0.52031	0.373;0.688	T	0.69540	-0.5118	10	0.20046	T	0.44	.	19.9007	0.96985	0.0:0.0:1.0:0.0	.	239;338	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	F	338;239;236	ENSP00000307822:V338F;ENSP00000379321:V239F;ENSP00000351599:V236F	ENSP00000307822:V338F	V	+	1	0	NPFFR2	73231836	1.000000	0.71417	0.990000	0.47175	0.002000	0.02628	6.501000	0.73691	2.791000	0.96007	0.655000	0.94253	GTC		0.517	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885	
CCSER1	401145	broad.mit.edu	37	4	91760137	91760137	+	Intron	SNP	G	G	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:91760137G>C	ENST00000509176.1	+	8	2382				CCSER1_ENST00000333691.8_Intron	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1																		GTCTTCTTCAGTTTCGGCTTA	0.522																																						uc003hsy.2																			0					0						c.(52-54)CTG>GTG		thymosin-like 3							139.0	151.0	147.0					4																	91760137		1511	2707	4218	SO:0001627	intron_variant	7117							g.chr4:91760137G>C		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2094+23141G>C	4.37:g.91760137G>C						FAM190A_uc003hsv.3_Intron|FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.2_Intron	p.L18V	NM_183049	NP_898870				Epithelial(2;5.28e-11)|OV - Ovarian serous cystadenocarcinoma(123;8.9e-10)|all cancers(2;3.21e-09)|STAD - Stomach adenocarcinoma(1;0.0201)	1	133	-		all_cancers(2;6.48e-24)|all_epithelial(2;3.86e-25)|Colorectal(2;8.52e-12)|all_lung(2;3.73e-07)|Lung NSC(2;7.99e-07)|Renal(2;0.0243)|Hepatocellular(203;0.0411)						Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.52C>G	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	g	5.598	0.295074	0.10622	.	.	ENSG00000187653	ENST00000402089;ENST00000507623;ENST00000380638	.	.	.	2.48	-4.95	0.03048	.	0.000000	0.47852	U	0.000201	T	0.65739	0.2720	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.65578	-0.6134	8	0.87932	D	0	-21.3676	5.0292	0.14400	0.2462:0.0:0.5797:0.1741	.	18	A8MW06	TMSL3_HUMAN	V	18;43;18	.	ENSP00000370012:L18V	L	-	1	2	TMSL3	91979160	1.000000	0.71417	0.967000	0.41034	0.411000	0.31082	1.495000	0.35627	-1.175000	0.02751	0.281000	0.19383	CTG		0.522	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	
CFI	3426	broad.mit.edu	37	4	110663746	110663746	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:110663746C>T	ENST00000394634.2	-	12	1642	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	CFI_ENST00000512148.1_Missense_Mutation_p.E472K|CFI_ENST00000394635.3_Missense_Mutation_p.E487K	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	479	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AAGACTCTTTCGTTATCTAAA	0.338																																						uc003hzr.3																			0					0						c.(1435-1437)GAA>AAA		complement factor I preproprotein							77.0	75.0	76.0					4																	110663746		2203	4299	6502	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110663746C>T	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1435G>A	4.37:g.110663746C>T	ENSP00000378130:p.Glu479Lys					CFI_uc003hzq.2_Missense_Mutation_p.E276K|CFI_uc011cft.1_Missense_Mutation_p.E487K|CFI_uc003hzs.3_Missense_Mutation_p.E472K	p.E479K	NM_000204	NP_000195	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	12	1643	-		Hepatocellular(203;0.217)	479			Peptidase S1.		O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.1435G>A	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.948179	0.00475	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.88124	-2.34;-2.34;-2.34	4.82	-2.0	0.07433	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.902490	0.09548	N	0.787235	T	0.67373	0.2886	N	0.16037	0.36	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.09377	0.004;0.003;0.003	T	0.54899	-0.8224	10	0.06757	T	0.87	-6.0137	2.4666	0.04554	0.094:0.2635:0.2165:0.426	.	487;472;479	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	K	487;479;472	ENSP00000378131:E487K;ENSP00000378130:E479K;ENSP00000427438:E472K	ENSP00000378130:E479K	E	-	1	0	CFI	110883195	0.000000	0.05858	0.169000	0.22859	0.006000	0.05464	-0.736000	0.04882	-0.113000	0.11958	-0.858000	0.03015	GAA		0.338	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204	
FAT1	2195	broad.mit.edu	37	4	187541102	187541102	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:187541102T>A	ENST00000441802.2	-	10	6847	c.6638A>T	c.(6637-6639)aAa>aTa	p.K2213I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2213	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTAGAACACTTTCAGGCCTTC	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6637-6639)AAA>ATA		FAT tumor suppressor 1 precursor							160.0	160.0	160.0					4																	187541102		2003	4168	6171	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541102T>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6638A>T	4.37:g.187541102T>A	ENSP00000406229:p.Lys2213Ile	HNSCC(5;0.00058)					p.K2213I	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6826	-			2213			Extracellular (Potential).|Cadherin 20.			Missense_Mutation	SNP	ENST00000441802.2	37	c.6638A>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.435879	0.25813	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01548	4.78	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	0.053575	0.64402	D	0.000002	T	0.03608	0.0103	N	0.25992	0.78	0.19775	N	0.999959	D	0.61697	0.99	D	0.63192	0.912	T	0.47699	-0.9097	10	0.39692	T	0.17	.	7.6196	0.28177	0.0:0.1577:0.0:0.8423	.	2213	Q14517	FAT1_HUMAN	I	2213;2215	ENSP00000406229:K2213I	ENSP00000260147:K2215I	K	-	2	0	FAT1	187778096	1.000000	0.71417	0.899000	0.35326	0.622000	0.37654	3.751000	0.55165	2.116000	0.64780	0.533000	0.62120	AAA		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
CDH9	1007	broad.mit.edu	37	5	26902769	26902769	+	Nonsense_Mutation	SNP	G	G	A	rs376720983		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:26902769G>A	ENST00000231021.4	-	7	1241	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	357	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTAAGAATCGTGGATCAGGG	0.358																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1069-1071)CGA>TGA		cadherin 9, type 2 preproprotein							101.0	100.0	100.0					5																	26902769		2203	4300	6503	SO:0001587	stop_gained	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902769G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1069C>T	5.37:g.26902769G>A	ENSP00000231021:p.Arg357*						p.R357*	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			7	1238	-			357			Cadherin 3.|Extracellular (Potential).		Q3B7I5	Nonsense_Mutation	SNP	ENST00000231021.4	37	c.1069C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	37	6.093357	0.97276	.	.	ENSG00000113100	ENST00000231021	.	.	.	5.62	3.78	0.43462	.	0.122061	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5114	0.61515	0.0:0.0:0.715:0.285	.	.	.	.	X	357	.	.	R	-	1	2	CDH9	26938526	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.348000	0.52209	0.674000	0.31244	0.650000	0.86243	CGA		0.358	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
MTX3	345778	broad.mit.edu	37	5	79284387	79284387	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:79284387C>G	ENST00000512528.1	-	5	422	c.402G>C	c.(400-402)ttG>ttC	p.L134F	MTX3_ENST00000509852.1_Missense_Mutation_p.L134F|MTX3_ENST00000512560.1_Missense_Mutation_p.L73F			Q5HYI7	MTX3_HUMAN	metaxin 3	134					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		GGATCAAACTCAAAGGAAAAG	0.453																																						uc010jag.2																			0					0						c.(400-402)TTG>TTC		metaxin 3							52.0	48.0	49.0					5																	79284387		1888	4109	5997	SO:0001583	missense	345778				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr5:79284387C>G	BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.402G>C	5.37:g.79284387C>G	ENSP00000424798:p.Leu134Phe					MTX3_uc010jah.2_Missense_Mutation_p.L134F|MTX3_uc003kge.3_Missense_Mutation_p.L73F|MTX3_uc003kgf.1_5'Flank	p.L134F	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)	5	429	-		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	134					B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37	c.402G>C		.	.	.	.	.	.	.	.	.	.	C	15.62	2.888418	0.52014	.	.	ENSG00000177034	ENST00000512560;ENST00000328496;ENST00000509852;ENST00000512528;ENST00000418095	T;T;T	0.57273	0.41;0.56;0.5	5.58	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.72353	2.195	0.54753	D	0.999986	D;P	0.89917	1.0;0.565	D;B	0.91635	0.999;0.401	T	0.70238	-0.4927	10	0.37606	T	0.19	-2.7671	14.4867	0.67622	0.0:0.9293:0.0:0.0707	.	134;134	Q5HYI7-4;Q5HYI7	.;MTX3_HUMAN	F	73;134;134;134;134	ENSP00000423600:L73F;ENSP00000423302:L134F;ENSP00000424798:L134F	ENSP00000331672:L134F	L	-	3	2	MTX3	79320143	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.696000	0.25541	1.363000	0.46019	-0.140000	0.14226	TTG		0.453	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1	XM_293971	
GPR98	84059	broad.mit.edu	37	5	89943466	89943466	+	Silent	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:89943466A>G	ENST00000405460.2	+	17	3270	c.3174A>G	c.(3172-3174)ggA>ggG	p.G1058G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1058	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGAAAAAGGAGAAACGCTCA	0.413																																						uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(3172-3174)GGA>GGG		G protein-coupled receptor 98 precursor							171.0	161.0	164.0					5																	89943466		1894	4111	6005	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89943466A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3174A>G	5.37:g.89943466A>G						GPR98_uc003kjt.2_5'UTR	p.G1058G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	17	3270	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1058			Calx-beta 8.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.3174A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	0.365	-0.937292	0.02340	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.49	-1.78	0.07957	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.39600	D	0.969712	.	.	.	.	.	.	T	0.30736	-0.9968	4	.	.	.	.	2.2234	0.03978	0.3867:0.1009:0.3392:0.1732	.	.	.	.	G	647	.	.	R	+	1	2	GPR98	89979222	0.105000	0.21958	0.304000	0.25085	0.060000	0.15804	-0.396000	0.07278	-0.193000	0.10415	0.528000	0.53228	AGA		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
PCDHA12	56137	broad.mit.edu	37	5	140256668	140256668	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:140256668G>A	ENST00000398631.2	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCCG	0.687																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			0					0						c.(1609-1611)GCG>GCA		protocadherin alpha 12 isoform 1 precursor							75.0	84.0	81.0					5																	140256668		2203	4298	6501	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256668G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1611G>A	5.37:g.140256668G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A537A	p.A537A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1738	+			537			Cadherin 5.|Extracellular (Potential).		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1611G>A	CCDS47285.1																																																																																				0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
SIM1	6492	broad.mit.edu	37	6	100838896	100838896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:100838896G>A	ENST00000369208.3	-	12	2424	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	SIM1_ENST00000262901.4_Nonsense_Mutation_p.R548*			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	548	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTACGATATCGGTCACCTGAT	0.428																																						uc003pqj.3																			0				ovary(4)	4						c.(1642-1644)CGA>TGA		single-minded homolog 1							81.0	85.0	83.0					6																	100838896		2203	4300	6503	SO:0001587	stop_gained	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838896G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1642C>T	6.37:g.100838896G>A	ENSP00000358210:p.Arg548*					SIM1_uc010kcu.2_Nonsense_Mutation_p.R548*	p.R548*	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	1849	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	548			Single-minded C-terminal.		Q5TDP7	Nonsense_Mutation	SNP	ENST00000369208.3	37	c.1642C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	45	11.391913	0.99555	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	.	.	.	5.9	5.01	0.66863	.	0.052206	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2981	0.82786	0.0:0.0:0.8666:0.1334	.	.	.	.	X	548	.	ENSP00000262901:R548X	R	-	1	2	SIM1	100945617	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	6.318000	0.72866	1.453000	0.47775	0.650000	0.86243	CGA		0.428	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
RFX6	222546	broad.mit.edu	37	6	117246619	117246619	+	Missense_Mutation	SNP	C	C	T	rs201446493		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:117246619C>T	ENST00000332958.2	+	16	1698	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	561					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.A561V(3)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCCAGATGCGAGTAAAGCT	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		21160	0.0		0.001	False		,,,				2504	0.0					uc003pxm.2																			3	Substitution - Missense(3)		large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1681-1683)GCG>GTG		regulatory factor X, 6							109.0	114.0	112.0					6																	117246619		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117246619C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1682C>T	6.37:g.117246619C>T	ENSP00000332208:p.Ala561Val						p.A561V	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			16	1745	+			561					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1682C>T	CCDS5113.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.3	4.907150	0.92107	.	.	ENSG00000185002	ENST00000332958	T	0.58940	0.3	5.85	5.85	0.93711	.	0.101828	0.64402	D	0.000002	T	0.65729	0.2719	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.56396	-0.7986	10	0.23891	T	0.37	-18.1239	20.1775	0.98187	0.0:1.0:0.0:0.0	.	561	Q8HWS3	RFX6_HUMAN	V	561	ENSP00000332208:A561V	ENSP00000332208:A561V	A	+	2	0	RFX6	117353312	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	4.595000	0.61048	2.771000	0.95319	0.561000	0.74099	GCG		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
SHPRH	257218	broad.mit.edu	37	6	146215353	146215353	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:146215353A>G	ENST00000367505.2	-	27	4892	c.4628T>C	c.(4627-4629)aTt>aCt	p.I1543T	SHPRH_ENST00000367503.3_Missense_Mutation_p.I1547T|SHPRH_ENST00000275233.7_Missense_Mutation_p.I1543T|SHPRH_ENST00000438092.2_Missense_Mutation_p.I1547T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1543	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTTTGAAATAATATCTAATAC	0.313																																						uc003qlf.2																			0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(4627-4629)ATT>ACT		SNF2 histone linker PHD RING helicase isoform a							91.0	87.0	88.0					6																	146215353		1817	4087	5904	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146215353A>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4628T>C	6.37:g.146215353A>G	ENSP00000356475:p.Ile1543Thr					SHPRH_uc003qld.2_Missense_Mutation_p.I1547T|SHPRH_uc003qle.2_Missense_Mutation_p.I1547T	p.I1543T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	27	5027	-		Ovarian(120;0.0365)	1543			Helicase C-terminal.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.4628T>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174439	0.78452	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.46	5.46	0.80206	Helicase, C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.82793	0.5114	L	0.57130	1.785	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.85377	0.1117	10	0.87932	D	0	-21.9176	14.3855	0.66942	1.0:0.0:0.0:0.0	.	1543;1547	Q149N8;Q149N8-4	SHPRH_HUMAN;.	T	1543;1547;1547;1543	ENSP00000356475:I1543T;ENSP00000356473:I1547T;ENSP00000412797:I1547T;ENSP00000275233:I1543T	ENSP00000275233:I1543T	I	-	2	0	SHPRH	146257046	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.890000	0.92477	2.187000	0.69744	0.477000	0.44152	ATT		0.313	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
SMOC2	64094	broad.mit.edu	37	6	169064764	169064764	+	Silent	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:169064764T>C	ENST00000356284.2	+	12	1516	c.1296T>C	c.(1294-1296)ggT>ggC	p.G432G	SMOC2_ENST00000354536.5_Silent_p.G443G|SMOC2_ENST00000477998.1_3'UTR	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	432					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCCCCAGAGGTCATGCTGAAA	0.299																																						uc003qws.1																			0				ovary(1)	1						c.(1294-1296)GGT>GGC		SPARC related modular calcium binding 2							48.0	50.0	49.0					6																	169064764		2203	4300	6503	SO:0001819	synonymous_variant	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:169064764T>C	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.1296T>C	6.37:g.169064764T>C						SMOC2_uc003qwr.1_Silent_p.G443G|SMOC2_uc011egu.1_Silent_p.G109G	p.G432G	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	12	1316	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	432					B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	37	c.1296T>C	CCDS55076.1																																																																																				0.299	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1		
NOD1	10392	broad.mit.edu	37	7	30492365	30492365	+	Missense_Mutation	SNP	C	C	T	rs139576372		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:30492365C>T	ENST00000222823.4	-	6	1193	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	NOD1_ENST00000423334.2_Intron	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	223	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGCGTCTAGCCGGCCCGTGGC	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19573	0.0		0.0	False		,,,				2504	0.0					uc003tav.2																			0				ovary(1)|skin(1)	2						c.(667-669)CGG>CAG		nucleotide-binding oligomerization domain		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	71.0	69.0		668	-1.9	0.0	7	dbSNP_134	69	0,8600		0,0,4300	no	missense	NOD1	NM_006092.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	223/954	30492365	1,13005	2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30492365C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.668G>A	7.37:g.30492365C>T	ENSP00000222823:p.Arg223Gln					NOD1_uc010kvs.2_Intron	p.R223Q	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			6	1191	-			223			NACHT.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.668G>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	0.800	-0.755796	0.03019	2.27E-4	0.0	ENSG00000106100	ENST00000222823	T	0.21543	2.0	5.49	-1.86	0.07760	NACHT nucleoside triphosphatase (1);	0.516121	0.21867	N	0.067959	T	0.06234	0.0161	N	0.03967	-0.31	0.49687	D	0.99981	B	0.11235	0.004	B	0.06405	0.002	T	0.39603	-0.9606	10	0.11485	T	0.65	.	6.1879	0.20508	0.129:0.1539:0.0:0.7171	.	223	Q9Y239	NOD1_HUMAN	Q	223	ENSP00000222823:R223Q	ENSP00000222823:R223Q	R	-	2	0	NOD1	30458890	0.980000	0.34600	0.049000	0.19019	0.015000	0.08874	1.025000	0.30090	-0.610000	0.05716	-0.150000	0.13652	CGG		0.577	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2		
EGFR	1956	broad.mit.edu	37	7	55221711	55221711	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:55221711G>C	ENST00000275493.2	+	7	932	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_ENST00000454757.2_Missense_Mutation_p.R199P|EGFR_ENST00000442591.1_Missense_Mutation_p.R252P|EGFR_ENST00000455089.1_Missense_Mutation_p.R207P|EGFR_ENST00000420316.2_Missense_Mutation_p.R252P|EGFR_ENST00000342916.3_Missense_Mutation_p.R252P|EGFR_ENST00000344576.2_Missense_Mutation_p.R252P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TAGGTCTGCCGCAAATTCCGA	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)|p.R252C(1)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(754-756)CGC>CCC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						185.0	147.0	160.0					7																	55221711		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221711G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.755G>C	7.37:g.55221711G>C	ENSP00000275493:p.Arg252Pro	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.R252P|EGFR_uc003tqi.2_Missense_Mutation_p.R252P|EGFR_uc003tqj.2_Missense_Mutation_p.R252P|EGFR_uc010kzg.1_Missense_Mutation_p.R207P|EGFR_uc011kco.1_Missense_Mutation_p.R199P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.R252P	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1001	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		252			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.755G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352009	0.41700	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.81	3.64	0.41730	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.164275	0.53938	D	0.000045	D	0.92714	0.7684	M	0.92649	3.33	0.53688	D	0.99997	D;D;D;D;D	0.76494	0.972;0.983;0.999;0.99;0.988	P;P;D;D;D	0.70716	0.88;0.895;0.97;0.913;0.938	D	0.91576	0.5275	10	0.51188	T	0.08	.	9.6723	0.40019	0.2017:0.0:0.7983:0.0	.	207;252;252;252;252	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	P	207;252;122;252;252;252;252;199;46	ENSP00000415559:R207P;ENSP00000342376:R252P;ENSP00000345973:R252P;ENSP00000413843:R252P;ENSP00000275493:R252P;ENSP00000410031:R252P;ENSP00000395243:R199P	ENSP00000275493:R252P	R	+	2	0	EGFR	55189205	1.000000	0.71417	0.608000	0.28969	0.150000	0.21749	2.318000	0.43779	0.551000	0.29008	0.467000	0.42956	CGC		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
WNT2	7472	broad.mit.edu	37	7	116960680	116960680	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:116960680C>T	ENST00000265441.3	-	2	550	c.251G>A	c.(250-252)cGc>cAc	p.R84H	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	84					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GCAATTCCAGCGGTGCTGGCG	0.597																																						uc003viz.2																			0				breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(250-252)CGC>CAC		wingless-type MMTV integration site family							79.0	61.0	67.0					7																	116960680		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960680C>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.251G>A	7.37:g.116960680C>T	ENSP00000265441:p.Arg84His					WNT2_uc003vja.2_Silent_p.P9P	p.R84H	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	551	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		84					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.251G>A	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393826	0.96009	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.80909	-1.43;-1.43	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.92786	0.7706	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94516	0.7723	10	0.87932	D	0	.	18.2752	0.90080	0.0:1.0:0.0:0.0	.	84	P09544	WNT2_HUMAN	H	84	ENSP00000265441:R84H;ENSP00000419466:R84H	ENSP00000265441:R84H	R	-	2	0	WNT2	116747916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.419000	0.80179	2.604000	0.88044	0.655000	0.94253	CGC		0.597	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391	
MGAM	8972	broad.mit.edu	37	7	141734061	141734061	+	Splice_Site	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:141734061G>T	ENST00000549489.2	+	15	1764		c.e15-1		MGAM_ENST00000475668.2_Splice_Site	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTTGTTTCAGGAATCCTGGA	0.478																																						uc003vwy.2																			0				ovary(2)	2						c.e15-1		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						59.0	58.0	58.0					7																	141734061		2002	4187	6189	SO:0001630	splice_region_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141734061G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1670-1G>T	7.37:g.141734061G>T							p.R557_splice	NM_004668	NP_004659	O43451	MGA_HUMAN			15	1724	+	Melanoma(164;0.0272)							Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37	c.1670_splice	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401676	0.62288	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6886	0.88263	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGAM	141380530	1.000000	0.71417	0.498000	0.27564	0.127000	0.20565	9.595000	0.98260	2.706000	0.92434	0.650000	0.86243	.		0.478	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		Intron
FAM135B	51059	broad.mit.edu	37	8	139164563	139164563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr8:139164563G>A	ENST00000395297.1	-	13	2325	c.2155C>T	c.(2155-2157)Cga>Tga	p.R719*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	719										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGTCTTCGAACAAACGGG	0.567										HNSCC(54;0.14)																												uc003yuy.2																			0				ovary(7)|skin(2)	9						c.(2155-2157)CGA>TGA		hypothetical protein LOC51059							44.0	45.0	45.0					8																	139164563		1971	4147	6118	SO:0001587	stop_gained	51059							g.chr8:139164563G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2155C>T	8.37:g.139164563G>A	ENSP00000378710:p.Arg719*	HNSCC(54;0.14)				FAM135B_uc003yux.2_Nonsense_Mutation_p.R620*|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Nonsense_Mutation_p.R281*|FAM135B_uc003yvb.2_Nonsense_Mutation_p.R281*	p.R719*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2326	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		719					B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	c.2155C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	39	7.446108	0.98289	.	.	ENSG00000147724	ENST00000395297	.	.	.	5.65	3.65	0.41850	.	0.337294	0.28983	N	0.013506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0874	14.3674	0.66815	0.0:0.0:0.6697:0.3303	.	.	.	.	X	719	.	ENSP00000276737:R719X	R	-	1	2	FAM135B	139233745	0.034000	0.19679	0.031000	0.17742	0.317000	0.28152	1.080000	0.30779	1.376000	0.46267	0.655000	0.94253	CGA		0.567	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
BNC2	54796	broad.mit.edu	37	9	16419622	16419622	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:16419622G>A	ENST00000380672.4	-	7	2722	c.2665C>T	c.(2665-2667)Cgt>Tgt	p.R889C	BNC2_ENST00000545497.1_Missense_Mutation_p.R794C|BNC2_ENST00000380667.2_Missense_Mutation_p.R822C	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AACAGTTTACGATGTAGGTTT	0.488																																						uc003zml.2																			0				ovary(2)|central_nervous_system(1)	3						c.(2665-2667)CGT>TGT		basonuclin 2							55.0	61.0	59.0					9																	16419622		2162	4245	6407	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419622G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2665C>T	9.37:g.16419622G>A	ENSP00000370047:p.Arg889Cys					BNC2_uc011lmw.1_Missense_Mutation_p.R794C|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.R676C	p.R889C	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	2805	-			889						Missense_Mutation	SNP	ENST00000380672.4	37	c.2665C>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980316	0.74474	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.38077	1.16;1.17;1.16	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;P;P	0.80764	0.994;0.719;0.765	T	0.61287	-0.7093	10	0.72032	D	0.01	-10.1781	19.6005	0.95560	0.0:0.0:1.0:0.0	.	794;889;654	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	C	889;822;794	ENSP00000370047:R889C;ENSP00000370042:R822C;ENSP00000444640:R794C	ENSP00000370042:R822C	R	-	1	0	BNC2	16409622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.634000	0.89283	0.655000	0.94253	CGT		0.488	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
LINGO2	158038	broad.mit.edu	37	9	27950347	27950347	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:27950347C>T	ENST00000379992.2	-	6	772	c.323G>A	c.(322-324)cGt>cAt	p.R108H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R108H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	108						integral component of membrane (GO:0016021)		p.R108H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCGGAGGGAACGCAGGTTAAA	0.438																																						uc003zqu.1																			1	Substitution - Missense(1)		large_intestine(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(322-324)CGT>CAT		leucine rich repeat and Ig domain containing 2							167.0	166.0	166.0					9																	27950347		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27950347C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.323G>A	9.37:g.27950347C>T	ENSP00000369328:p.Arg108His					LINGO2_uc010mjf.1_Missense_Mutation_p.R108H|LINGO2_uc003zqv.1_Missense_Mutation_p.R108H	p.R108H	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	517	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	108			LRR 3.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.323G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239637	0.58995	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.59772	0.24;0.24	5.87	5.87	0.94306	.	0.051038	0.85682	D	0.000000	T	0.50684	0.1630	L	0.57536	1.79	0.58432	D	0.999998	P	0.35793	0.521	B	0.28916	0.096	T	0.48658	-0.9016	9	.	.	.	.	13.7487	0.62894	0.0:0.9299:0.0:0.0701	.	108	Q7L985	LIGO2_HUMAN	H	108	ENSP00000369328:R108H;ENSP00000310126:R108H	.	R	-	2	0	LINGO2	27940347	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.769000	0.62300	2.941000	0.99782	0.655000	0.94253	CGT		0.438	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570	
WNK2	65268	broad.mit.edu	37	9	96051416	96051416	+	Silent	SNP	A	A	G	rs556009011		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:96051416A>G	ENST00000297954.4	+	20	4491	c.4491A>G	c.(4489-4491)ccA>ccG	p.P1497P	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Silent_p.P1109P|WNK2_ENST00000395477.2_Silent_p.P1460P|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.P1072P	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1497					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTCCAGCTCCAGAGGCTGCCT	0.692													A|||	1	0.000199681	0.0	0.0	5008	,	,		13594	0.0		0.0	False		,,,				2504	0.001					uc004ati.1																			0				lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(4489-4491)CCA>CCG		WNK lysine deficient protein kinase 2							17.0	18.0	18.0					9																	96051416		2203	4297	6500	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051416A>G	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4491A>G	9.37:g.96051416A>G						WNK2_uc011lud.1_Silent_p.P1460P|WNK2_uc004atj.2_Silent_p.P1460P|WNK2_uc004atk.2_Silent_p.P1097P|WNK2_uc004atl.1_Silent_p.P55P	p.P1497P	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			20	4491	+			1497					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.4491A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.686|6.686	0.495155|0.495155	0.12762|0.12762	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730;ENST00000448251|ENST00000411624	.|.	.|.	.|.	5.46|5.46	-8.55|-8.55	0.00908|0.00908	.|.	.|.	.|.	.|.	.|.	T|T	0.17365|0.17365	0.0417|0.0417	.|.	.|.	.|.	0.21416|0.21416	N|N	0.999697|0.999697	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.20940|0.20940	-1.0260|-1.0260	4|4	.|.	.|.	.|.	.|.	4.0226|4.0226	0.09672|0.09672	0.5271:0.1039:0.2635:0.1055|0.5271:0.1039:0.2635:0.1055	.|.	.|.	.|.	.|.	R|G	1456;257|1064	.|.	.|.	Q|R	+|+	2|1	0|2	WNK2|WNK2	95091237|95091237	0.104000|0.104000	0.21937|0.21937	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	0.280000|0.280000	0.18790|0.18790	-1.600000|-1.600000	0.01603|0.01603	-0.379000|-0.379000	0.06801|0.06801	CAG|AGA		0.692	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
MAGEB4	4115	broad.mit.edu	37	X	30260502	30260502	+	Missense_Mutation	SNP	G	G	A	rs201048812		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrX:30260502G>A	ENST00000378982.2	+	1	446	c.250G>A	c.(250-252)Gac>Aac	p.D84N	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	84										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGATAAAGGCGACGAGAGCCA	0.517																																						uc004dcb.2																			0				ovary(1)	1						c.(250-252)GAC>AAC		melanoma antigen family B, 4		G	ASN/ASP	0,3833		0,0,1631,571	59.0	46.0	51.0		250	1.4	0.0	X		51	1,6727		0,1,2427,1872	yes	missense	MAGEB4	NM_002367.3	23	0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095	possibly-damaging	84/347	30260502	1,10560	2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260502G>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.250G>A	X.37:g.30260502G>A	ENSP00000368266:p.Asp84Asn					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.D84N	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	334	+			84					B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.250G>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871311	0.33069	0.0	1.49E-4	ENSG00000120289	ENST00000378982	T	0.04119	3.7	3.37	1.43	0.22495	Melanoma associated antigen, MAGE, N-terminal (1);	2.332850	0.04648	U	0.406486	T	0.04543	0.0124	N	0.19112	0.55	0.09310	N	1	P	0.41041	0.736	B	0.41666	0.363	T	0.33803	-0.9854	10	0.59425	D	0.04	.	3.7135	0.08428	0.139:0.0:0.6234:0.2376	.	84	O15481	MAGB4_HUMAN	N	84	ENSP00000368266:D84N	ENSP00000368266:D84N	D	+	1	0	MAGEB4	30170423	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.272000	0.08560	0.232000	0.21100	0.544000	0.68410	GAC		0.517	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367	
AR	367	broad.mit.edu	37	X	66937441	66937441	+	Silent	SNP	C	C	T	rs369390411		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrX:66937441C>T	ENST00000374690.3	+	5	2819	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	AR_ENST00000396043.2_Silent_p.F233F|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	764	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.		A -> T (in AIS; loss of androgen binding). {ECO:0000269|PubMed:1426313, ECO:0000269|PubMed:9252933, ECO:0000269|PubMed:9328206, ECO:0000269|PubMed:9856504}.|A -> V (in AIS).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TGCTCTACTTCGCCCCTGATC	0.542									Androgen Insensitivity Syndrome																													uc004dwu.1																			0				ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	GRCh37	CM921035	AR	M		c.(2293-2295)TTC>TTT		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)		,	0,3835		0,0,0,1632,571	123.0	88.0	100.0		2295,699	-10.2	0.5	X		100	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous	AR	NM_000044.3,NM_001011645.2	,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	,	765/921,233/389	66937441	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66937441C>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2295C>T	X.37:g.66937441C>T						AR_uc004dwv.1_Silent_p.F233F	p.F765F	NM_000044	NP_000035	P10275	ANDR_HUMAN			5	3410	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	764		F -> L (in AIS).	Ligand-binding.|Interaction with MYST2.		A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	c.2295C>T	CCDS14387.1																																																																																				0.542	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
KDM5D	8284	broad.mit.edu	37	Y	21897252	21897252	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrY:21897252T>A	ENST00000317961.4	-	8	1190	c.919A>T	c.(919-921)Agc>Tgc	p.S307C	KDM5D_ENST00000382806.2_Missense_Mutation_p.S250C|KDM5D_ENST00000541639.1_Missense_Mutation_p.S307C	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	307					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TGGGCACTGCTGTGATTCTTT	0.398																																						uc004fug.2																			0				skin(1)	1						c.(919-921)AGC>TGC		jumonji, AT rich interactive domain 1D isoform	Vitamin C(DB00126)																																			SO:0001583	missense	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21897252T>A	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.919A>T	Y.37:g.21897252T>A	ENSP00000322408:p.Ser307Cys					KDM5D_uc011naz.1_Missense_Mutation_p.S307C|KDM5D_uc010nwy.2_Missense_Mutation_p.S250C|KDM5D_uc011nba.1_Missense_Mutation_p.S307C|KDM5D_uc004fuh.2_Missense_Mutation_p.S262C	p.S307C	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN			8	1207	-			307					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	c.919A>T	CCDS14794.1																																																																																				0.398	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653	
