#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RANBP9	10048	broad.mit.edu	37	6	13642747	13642747	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:13642747C>T	ENST00000011619.3	-	7	1247	c.1189G>A	c.(1189-1191)Gtt>Att	p.V397I	RANBP9_ENST00000539980.1_Missense_Mutation_p.V168I	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	397	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCTTCTAGAACGGTCTGGTCT	0.363																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1189-1191)Gtt>Att		RAN binding protein 9							100.0	94.0	96.0					6																	13642747		2203	4300	6503	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13642747C>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1189G>A	6.37:g.13642747C>T	ENSP00000011619:p.Val397Ile					RANBP9_ENST00000539980.1_Missense_Mutation_p.V168I	p.V397I	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		7	1247	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	397			LisH.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.1189G>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949787	0.34377	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T	0.76839	-1.05	5.75	4.87	0.63330	LisH dimerisation motif (2);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	N	0.04043	-0.29	0.58432	D	0.999994	P	0.47762	0.9	B	0.29716	0.106	T	0.50825	-0.8782	10	0.14656	T	0.56	-7.9464	15.1692	0.72858	0.0:0.9308:0.0:0.0692	.	397	Q96S59	RANB9_HUMAN	I	397;168	ENSP00000011619:V397I	ENSP00000011619:V397I	V	-	1	0	RANBP9	13750726	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.445000	0.80570	2.708000	0.92522	0.563000	0.77884	GTT		0.363	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			15	32	0	0	0	1	0	15	32				
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)gGg>gAg																																						SO:0001583	missense	0							g.chr20:29628282G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.284G>A	20.37:g.29628282G>A	ENSP00000278882:p.Gly95Glu					FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E	p.G95E							6	664	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	g	18.02	3.529440	0.64860	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56103	0.48	2.08	2.08	0.27032	Actin cross-linking (1);	0.051750	0.85682	D	0.000000	T	0.52092	0.1713	.	.	.	0.58432	D	0.999996	B;P	0.39940	0.309;0.696	P;P	0.46543	0.492;0.52	T	0.54221	-0.8326	9	0.45353	T	0.12	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	100;95	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	E	95;100;95	ENSP00000408863:G100E	ENSP00000278882:G95E	G	+	2	0	FRG1B	28241943	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GGG		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	120	0	0	0	1	0	5	120				
PPFIA3	8541	broad.mit.edu	37	19	49636260	49636260	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:49636260G>A	ENST00000334186.4	+	8	1231	c.882G>A	c.(880-882)gcG>gcA	p.A294A	PPFIA3_ENST00000602351.1_Silent_p.A294A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	294					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTCCGCAGGCGCTGGCGCAGC	0.647																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(880-882)gcG>gcA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							23.0	21.0	22.0					19																	49636260		2202	4299	6501	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49636260G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.882G>A	19.37:g.49636260G>A						PPFIA3_ENST00000602351.1_Silent_p.A294A	p.A294A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	8	1231	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	294					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.882G>A	CCDS12758.1																																																																																				0.647	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		4	22	0	0	0	1	0	4	22				
SERPINB12	89777	broad.mit.edu	37	18	61234092	61234092	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr18:61234092G>A	ENST00000269491.1	+	7	1066	c.1066G>A	c.(1066-1068)Ggt>Agt	p.G356S	SERPINB12_ENST00000382768.1_Missense_Mutation_p.G376S	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	356					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GGATGAAAACGGTACCCAGGC	0.458																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(1126-1128)Ggt>Agt		serpin peptidase inhibitor, clade B (ovalbumin), member 12							77.0	80.0	79.0					18																	61234092		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61234092G>A	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.1066G>A	18.37:g.61234092G>A	ENSP00000269491:p.Gly356Ser					SERPINB12_ENST00000269491.1_Missense_Mutation_p.G356S	p.G376S			Q96P63	SPB12_HUMAN			7	1126	+			356					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.1126G>A	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910658	0.72983	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.92495	-3.05;-3.05	5.81	5.81	0.92471	Serpin domain (3);	0.000000	0.64402	D	0.000002	D	0.98086	0.9369	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99029	1.0820	10	0.87932	D	0	.	20.0776	0.97750	0.0:0.0:1.0:0.0	.	376;356	Q3SYB4;Q96P63	.;SPB12_HUMAN	S	356;376	ENSP00000269491:G356S;ENSP00000372218:G376S	ENSP00000269491:G356S	G	+	1	0	SERPINB12	59385072	1.000000	0.71417	0.217000	0.23759	0.022000	0.10575	9.866000	0.99616	2.754000	0.94517	0.655000	0.94253	GGT		0.458	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		11	33	0	0	0	1	0	11	33				
ZNF208	7757	broad.mit.edu	37	19	22171640	22171640	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:22171640C>T	ENST00000397126.4	-	2	223	c.75G>A	c.(73-75)caG>caA	p.Q25Q	ZNF208_ENST00000599916.1_Silent_p.Q25Q|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000601773.1_Silent_p.Q25Q	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	25	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)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATAAATTCTGCTGTGCAGTGT	0.398																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(73-75)caG>caA		zinc finger protein 208							137.0	147.0	143.0					19																	22171640		2203	4299	6502	SO:0001819	synonymous_variant	7757							g.chr19:22171640C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.75G>A	19.37:g.22171640C>T						ZNF208_ENST00000599916.1_Silent_p.Q25Q|ZNF208_ENST00000601773.1_Silent_p.Q25Q|ZNF208_ENST00000597040.1_5'UTR	p.Q25Q	NM_007153.3	NP_009084.2					2	223	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.75G>A	CCDS54240.1																																																																																				0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		8	243	0	0	0	1	0	8	243				
OR1L8	138881	broad.mit.edu	37	9	125330260	125330260	+	Missense_Mutation	SNP	C	C	T	rs373426364		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr9:125330260C>T	ENST00000304865.2	-	1	578	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAAGGTGAGACGATTCAGCAG	0.498																																						ENST00000304865.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(496-498)cGt>cAt		olfactory receptor, family 1, subfamily L, member 8							154.0	116.0	129.0					9																	125330260		2203	4300	6503	SO:0001583	missense	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125330260C>T		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.497G>A	9.37:g.125330260C>T	ENSP00000306607:p.Arg166His						p.R166H	NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN			1	578	-			166					A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	c.497G>A	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872590	0.33069	.	.	ENSG00000171496	ENST00000304865	T	0.00169	8.63	4.49	-8.98	0.00754	GPCR, rhodopsin-like superfamily (1);	2.578920	0.01572	N	0.020616	T	0.00144	0.0004	L	0.42632	1.34	0.09310	N	1	B	0.19583	0.037	B	0.21708	0.036	T	0.32851	-0.9891	10	0.54805	T	0.06	2.0917	5.8837	0.18870	0.4193:0.1963:0.0:0.3844	.	166	Q8NGR8	OR1L8_HUMAN	H	166	ENSP00000306607:R166H	ENSP00000306607:R166H	R	-	2	0	OR1L8	124370081	0.000000	0.05858	0.000000	0.03702	0.927000	0.56198	-1.955000	0.01523	-2.450000	0.00543	-0.582000	0.04134	CGT		0.498	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			11	38	0	0	0	1	0	11	38				
SLC5A1	6523	broad.mit.edu	37	22	32479071	32479071	+	Silent	SNP	G	G	A	rs184213779		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:32479071G>A	ENST00000266088.4	+	7	844	c.594G>A	c.(592-594)gcG>gcA	p.A198A	SLC5A1_ENST00000543737.1_Silent_p.A71A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	198					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.A198A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GGGGCCTGGCGGCGGTGATTT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		21964	0.001		0.0	False		,,,				2504	0.0					ENST00000266088.4																			1	Substitution - coding silent(1)	p.A198A(1)	lung(1)	NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(592-594)gcG>gcA		solute carrier family 5 (sodium/glucose cotransporter), member 1							123.0	95.0	105.0					22																	32479071		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32479071G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.594G>A	22.37:g.32479071G>A						SLC5A1_ENST00000543737.1_Silent_p.A71A	p.A198A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			7	844	+			198					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.594G>A	CCDS13902.1																																																																																				0.572	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		15	6	0	0	0	1	0	15	6				
OR2T6	254879	broad.mit.edu	37	1	248551726	248551726	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:248551726G>T	ENST00000355728.2	+	1	817	c.817G>T	c.(817-819)Gtc>Ttc	p.V273F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAAGATAAGGTCTTCTCTGC	0.473																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(817-819)Gtc>Ttc		olfactory receptor, family 2, subfamily T, member 6							143.0	138.0	140.0					1																	248551726		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551726G>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.817G>T	1.37:g.248551726G>T	ENSP00000347965:p.Val273Phe						p.V273F	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	817	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		273					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.817G>T	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282294	0.40394	.	.	ENSG00000198104	ENST00000355728	T	0.00274	8.35	4.2	-2.45	0.06481	GPCR, rhodopsin-like superfamily (1);	0.857165	0.09740	N	0.761925	T	0.00178	0.0005	L	0.35854	1.095	0.09310	N	1	B	0.10296	0.003	B	0.20577	0.03	T	0.17319	-1.0373	10	0.59425	D	0.04	.	6.1623	0.20370	0.3615:0.3384:0.3:0.0	.	273	Q8NHC8	OR2T6_HUMAN	F	273	ENSP00000347965:V273F	ENSP00000347965:V273F	V	+	1	0	OR2T6	246618349	0.000000	0.05858	0.675000	0.29917	0.825000	0.46686	-5.302000	0.00133	-0.330000	0.08514	-0.133000	0.14855	GTC		0.473	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		18	39	1	0	2.94398e-08	1	3.10754e-08	18	39				
ADI1	55256	broad.mit.edu	37	2	3517685	3517685	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:3517685G>T	ENST00000327435.6	-	2	431	c.183C>A	c.(181-183)taC>taA	p.Y61*	ADI1_ENST00000382093.5_Nonsense_Mutation_p.Y55*	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCATCCAGGAGTAGTTCCTCT	0.373																																						ENST00000382093.5																			0				breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10						c.(163-165)taC>taA		acireductone dioxygenase 1							170.0	161.0	164.0					2																	3517685		2203	4300	6503	SO:0001587	stop_gained	55256				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding	g.chr2:3517685G>T		CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"""membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"""	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.183C>A	2.37:g.3517685G>T	ENSP00000333666:p.Tyr61*					ADI1_ENST00000327435.6_Nonsense_Mutation_p.Y61*	p.Y55*			Q9BV57	MTND_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)	2	3002	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		61						Nonsense_Mutation	SNP	ENST00000327435.6	37	c.165C>A	CCDS1653.1	.	.	.	.	.	.	.	.	.	.	G	55	25.117901	0.99963	.	.	ENSG00000182551	ENST00000327435;ENST00000382093	.	.	.	4.27	1.47	0.22746	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.2234	7.6888	0.28557	0.2888:0.0:0.7112:0.0	.	.	.	.	X	61;55	.	ENSP00000333666:Y61X	Y	-	3	2	ADI1	3496693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.563000	0.23547	0.190000	0.20209	0.591000	0.81541	TAC		0.373	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269		6	42	1	0	0.217242	1	0.217242	6	42				
USP26	83844	broad.mit.edu	37	X	132162098	132162098	+	Missense_Mutation	SNP	G	G	A	rs146792106	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chrX:132162098G>A	ENST00000511190.1	-	6	620	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	USP26_ENST00000406273.1_Missense_Mutation_p.R51W|USP26_ENST00000370832.1_Missense_Mutation_p.R51W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	51					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCACTTAGCCGAAAAGTGCTA	0.318													G|||	1	0.000264901	0.0008	0.0	3775	,	,		14961	0.0		0.0	False		,,,				2504	0.0				NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(151-153)Cgg>Tgg		ubiquitin specific peptidase 26		G	TRP/ARG	7,3828		0,6,1,1626,570	72.0	70.0	71.0		151	2.5	0.0	X	dbSNP_134	71	0,6727		0,0,0,2428,1871	no	missense	USP26	NM_031907.1	101	0,6,1,4054,2441	AA,AG,A,GG,G		0.0,0.1825,0.0663	possibly-damaging	51/914	132162098	7,10555	2203	4299	6502	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132162098G>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.151C>T	X.37:g.132162098G>A	ENSP00000423390:p.Arg51Trp					USP26_ENST00000370832.1_Missense_Mutation_p.R51W|USP26_ENST00000406273.1_Missense_Mutation_p.R51W	p.R51W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	620	-	Acute lymphoblastic leukemia(192;0.000127)		51					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.151C>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599644	0.28534	0.001825	0.0	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.55930	0.49;0.49;0.49	4.28	2.46	0.29980	.	1.309710	0.05646	N	0.584244	T	0.41971	0.1182	N	0.22421	0.69	0.09310	N	1	P	0.41102	0.738	B	0.38562	0.276	T	0.40040	-0.9584	10	0.87932	D	0	0.628	9.7073	0.40222	0.0:0.4036:0.5964:0.0	.	51	Q9BXU7	UBP26_HUMAN	W	51	ENSP00000359869:R51W;ENSP00000423390:R51W;ENSP00000384360:R51W	ENSP00000359869:R51W	R	-	1	2	USP26	131989764	0.061000	0.20836	0.007000	0.13788	0.006000	0.05464	0.930000	0.28858	0.529000	0.28599	0.600000	0.82982	CGG		0.318	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		7	28	0	0	0	1	0	7	28				
MYO1B	4430	broad.mit.edu	37	2	192251949	192251949	+	Splice_Site	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:192251949G>A	ENST00000392318.3	+	17	1801		c.e17-1		MYO1B_ENST00000304164.4_Splice_Site|MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB						actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GCTGCTTATAGGTGCTGTACC	0.443																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.e17-1		myosin IB							117.0	116.0	117.0					2																	192251949		2203	4300	6503	SO:0001630	splice_region_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192251949G>A	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1555-1G>A	2.37:g.192251949G>A						MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site|MYO1B_ENST00000304164.4_Splice_Site		NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		17	1801	+								O43794|Q7Z6L5	Splice_Site	SNP	ENST00000392318.3	37		CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272764	0.80580	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO1B	191960194	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.731000	0.98807	2.822000	0.97130	0.650000	0.86243	.		0.443	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	Intron	16	35	0	0	0	1	0	16	35				
GLIS1	148979	broad.mit.edu	37	1	54060262	54060262	+	Missense_Mutation	SNP	C	C	T	rs200251480		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:54060262C>T	ENST00000312233.2	-	3	880	c.314G>A	c.(313-315)cGg>cAg	p.R105Q		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGGGGGGCTCCGGAGTCCATT	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		15856	0.0		0.001	False		,,,				2504	0.0					ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(313-315)cGg>cAg		GLIS family zinc finger 1							21.0	26.0	24.0					1																	54060262		2179	4249	6428	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060262C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.314G>A	1.37:g.54060262C>T	ENSP00000309653:p.Arg105Gln						p.R105Q	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			3	880	-			105						Missense_Mutation	SNP	ENST00000312233.2	37	c.314G>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091862	0.55968	.	.	ENSG00000174332	ENST00000312233	T	0.13089	2.62	4.8	3.87	0.44632	.	0.000000	0.48767	D	0.000166	T	0.08980	0.0222	L	0.32530	0.975	0.34087	D	0.660292	B	0.31752	0.338	B	0.17098	0.017	T	0.15065	-1.0450	10	0.62326	D	0.03	.	7.6155	0.28156	0.1666:0.7407:0.0:0.0927	.	105	Q8NBF1	GLIS1_HUMAN	Q	105	ENSP00000309653:R105Q	ENSP00000309653:R105Q	R	-	2	0	GLIS1	53832850	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.021000	0.41020	1.316000	0.45131	0.563000	0.77884	CGG		0.662	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		5	52	0	0	0	1	0	5	52				
ADAP1	11033	broad.mit.edu	37	7	944779	944779	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:944779C>G	ENST00000265846.5	-	5	638	c.419G>C	c.(418-420)gGc>gCc	p.G140A	ADAP1_ENST00000449296.2_Missense_Mutation_p.G68A|ADAP1_ENST00000539900.1_Missense_Mutation_p.G151A|ADAP1_ENST00000463358.1_5'UTR	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	140	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTTGTCCCGGCCACGCTTCCA	0.552																																						ENST00000265846.5																			0				endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(418-420)gGc>gCc		ArfGAP with dual PH domains 1							61.0	62.0	61.0					7																	944779		2190	4288	6478	SO:0001583	missense	11033				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	g.chr7:944779C>G	AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16486	protein-coding gene	gene with protein product		608114	"""centaurin, alpha 1"""	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.419G>C	7.37:g.944779C>G	ENSP00000265846:p.Gly140Ala					ADAP1_ENST00000449296.2_Missense_Mutation_p.G68A|ADAP1_ENST00000539900.1_Missense_Mutation_p.G151A|ADAP1_ENST00000463358.1_5'UTR	p.G140A	NM_006869.2	NP_006860.1	O75689	ADAP1_HUMAN			5	638	-			140			PH 1.		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Missense_Mutation	SNP	ENST00000265846.5	37	c.419G>C	CCDS5318.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	21.7|21.7|21.7	4.194441|4.194441|4.194441	0.78902|0.78902|0.78902	.|.|.	.|.|.	ENSG00000105963|ENSG00000105963|ENSG00000105963	ENST00000446141;ENST00000437486;ENST00000453823|ENST00000265846;ENST00000449296;ENST00000538188;ENST00000539900;ENST00000435943|ENST00000454383	.|T;T;T;T|.	.|0.36878|.	.|1.23;1.23;1.23;1.47|.	3.98|3.98|3.98	3.98|3.98|3.98	0.46160|0.46160|0.46160	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.77651|0.77651|0.77651	0.4162|0.4162|0.4162	M|M|M	0.82630|0.82630|0.82630	2.6|2.6|2.6	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.89917|.	.|0.999;1.0|.	.|D;D|.	.|0.91635|.	.|0.929;0.999|.	T|T|T	0.80953|0.80953|0.80953	-0.1152|-0.1152|-0.1152	5|10|5	.|0.46703|.	.|T|.	.|0.11|.	-36.1778|-36.1778|-36.1778	16.2792|16.2792|16.2792	0.82664|0.82664|0.82664	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|45;140|.	.|B4DUZ7;O75689|.	.|.;ADAP1_HUMAN|.	P|A|C	123;74;83|140;68;45;151;127|80	.|ENSP00000265846:G140A;ENSP00000407267:G68A;ENSP00000442682:G151A;ENSP00000394973:G127A|.	.|ENSP00000265846:G140A|.	A|G|W	-|-|-	1|2|3	0|0|0	ADAP1|ADAP1|ADAP1	911305|911305|911305	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.996000|0.996000|0.996000	0.52242|0.52242|0.52242	0.837000|0.837000|0.837000	0.47467|0.47467|0.47467	7.336000|7.336000|7.336000	0.79245|0.79245|0.79245	2.052000|2.052000|2.052000	0.61016|0.61016|0.61016	0.450000|0.450000|0.450000	0.29827|0.29827|0.29827	GCC|GGC|TGG		0.552	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869		13	88	0	0	0	1	0	13	88				
FLT4	2324	broad.mit.edu	37	5	180056400	180056400	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:180056400G>A	ENST00000261937.6	-	7	922	c.844C>T	c.(844-846)Cga>Tga	p.R282*	FLT4_ENST00000502649.1_Nonsense_Mutation_p.R282*|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Nonsense_Mutation_p.R282*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	282	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGGAGCGTCGCTCGGGCACC	0.662																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(844-846)Cga>Tga		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						131.0	114.0	120.0					5																	180056400		2201	4299	6500	SO:0001587	stop_gained	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180056400G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.844C>T	5.37:g.180056400G>A	ENSP00000261937:p.Arg282*					FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Nonsense_Mutation_p.R282*|FLT4_ENST00000393347.3_Nonsense_Mutation_p.R282*	p.R282*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	7	922	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	282			Ig-like C2-type 3.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Nonsense_Mutation	SNP	ENST00000261937.6	37	c.844C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	37	6.459848	0.97585	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	.	.	.	4.91	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	12.6607	0.56811	0.0:0.0:0.7402:0.2598	.	.	.	.	X	282;282;282;92	.	ENSP00000261937:R282X	R	-	1	2	FLT4	179989006	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.552000	0.36244	2.440000	0.82611	0.561000	0.74099	CGA		0.662	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			11	69	0	0	0	1	0	11	69				
CD163L1	283316	broad.mit.edu	37	12	7526068	7526068	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:7526068C>T	ENST00000313599.3	-	14	3635	c.3578G>A	c.(3577-3579)aGc>aAc	p.S1193N	CD163L1_ENST00000396630.1_Missense_Mutation_p.S1193N|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.S1203N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1193	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGGGGCGAGGCTGACAACTCC	0.552																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3577-3579)aGc>aAc		CD163 molecule-like 1							154.0	128.0	136.0					12																	7526068		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7526068C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3578G>A	12.37:g.7526068C>T	ENSP00000315945:p.Ser1193Asn					CD163L1_ENST00000416109.2_Missense_Mutation_p.S1203N|CD163L1_ENST00000396630.1_Missense_Mutation_p.S1193N	p.S1193N			Q9NR16	C163B_HUMAN			14	3635	-			1193			SRCR 11.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3578G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.083255	0.00371	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.28895	1.59;1.59;1.59	2.11	-2.0	0.07433	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.225440	0.06230	U	0.688571	T	0.15696	0.0378	N	0.17082	0.46	0.09310	N	1	B;B	0.15719	0.014;0.008	B;B	0.17979	0.02;0.009	T	0.30446	-0.9978	10	0.10111	T	0.7	.	6.1487	0.20301	0.0:0.3472:0.0:0.6528	.	1203;1193	E7EVK4;Q9NR16	.;C163B_HUMAN	N	1193;1203;1193	ENSP00000315945:S1193N;ENSP00000393474:S1203N;ENSP00000379871:S1193N	ENSP00000315945:S1193N	S	-	2	0	CD163L1	7417335	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.080000	0.01368	-0.632000	0.05553	0.557000	0.71058	AGC		0.552	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		27	90	0	0	0	1	0	27	90				
ACACA	31	broad.mit.edu	37	17	35641873	35641873	+	Splice_Site	SNP	T	T	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:35641873T>C	ENST00000394406.2	-	4	418		c.e4-2		ACACA_ENST00000353139.5_Splice_Site|ACACA_ENST00000335166.5_Splice_Site|ACACA_ENST00000416895.1_Splice_Site|ACACA_ENST00000360679.3_Splice_Site	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATGCTGGACCTATAAAAATAC	0.418																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.e4-2		acetyl-CoA carboxylase alpha	Biotin(DB00121)						67.0	74.0	72.0					17																	35641873		2203	4300	6503	SO:0001630	splice_region_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35641873T>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.228-2A>G	17.37:g.35641873T>C						ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000394406.2_Splice_Site|ACACA_ENST00000416895.1_Splice_Site|ACACA_ENST00000335166.5_Splice_Site		NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			4	820	-		Breast(25;0.00157)|Ovarian(249;0.15)						B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Splice_Site	SNP	ENST00000394406.2	37		CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725364	0.68959	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000451642	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5962	0.76583	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACACA	32715986	1.000000	0.71417	0.978000	0.43139	0.567000	0.35839	7.948000	0.87774	2.073000	0.62155	0.528000	0.53228	.		0.418	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	Intron	11	62	0	0	0	1	0	11	62				
HPS5	11234	broad.mit.edu	37	11	18309134	18309134	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:18309134C>T	ENST00000349215.3	-	18	2942	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K	HPS5_ENST00000438420.2_Missense_Mutation_p.E775K|HPS5_ENST00000537258.1_5'Flank|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000396253.3_Missense_Mutation_p.E775K	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	889					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCCAAAAACTCAGCAGGATGA	0.428									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2323-2325)Gag>Aag		Hermansky-Pudlak syndrome 5							92.0	89.0	90.0					11																	18309134		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18309134C>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2665G>A	11.37:g.18309134C>T	ENSP00000265967:p.Glu889Lys					HPS5_ENST00000438420.2_Missense_Mutation_p.E775K|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.E889K	p.E775K	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			17	2785	-			889					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.2323G>A	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.535907	0.64972	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000544218	T;T;T	0.55234	0.53;0.53;0.54	4.94	4.01	0.46588	.	0.392508	0.23698	N	0.045443	T	0.40670	0.1126	N	0.22421	0.69	0.80722	D	1	B	0.20261	0.043	B	0.17722	0.019	T	0.27262	-1.0079	10	0.49607	T	0.09	.	15.1339	0.72549	0.0:0.1637:0.8362:0.0	.	889	Q9UPZ3	HPS5_HUMAN	K	775;775;889;75	ENSP00000379552:E775K;ENSP00000399590:E775K;ENSP00000265967:E889K	ENSP00000265967:E889K	E	-	1	0	HPS5	18265710	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.480000	0.45206	1.260000	0.44134	-0.310000	0.09108	GAG		0.428	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		15	46	0	0	0	1	0	15	46				
ADAMTS15	170689	broad.mit.edu	37	11	130343448	130343448	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:130343448G>A	ENST00000299164.2	+	8	2585	c.2585G>A	c.(2584-2586)cGg>cAg	p.R862Q		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	862	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CTGCAGAAGCGGGCGGTGGAC	0.746																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2584-2586)cGg>cAg		ADAM metallopeptidase with thrombospondin type 1 motif, 15							13.0	18.0	16.0					11																	130343448		2131	4192	6323	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343448G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2585G>A	11.37:g.130343448G>A	ENSP00000299164:p.Arg862Gln						p.R862Q	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2585	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	862			TSP type-1 2.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2585G>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606674	0.87157	.	.	ENSG00000166106	ENST00000299164	T	0.80738	-1.41	5.78	5.78	0.91487	.	.	.	.	.	D	0.93983	0.8073	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95211	0.8325	9	0.62326	D	0.03	.	20.0118	0.97458	0.0:0.0:1.0:0.0	.	862	Q8TE58	ATS15_HUMAN	Q	862	ENSP00000299164:R862Q	ENSP00000299164:R862Q	R	+	2	0	ADAMTS15	129848658	1.000000	0.71417	0.482000	0.27366	0.267000	0.26476	9.339000	0.96797	2.744000	0.94065	0.563000	0.77884	CGG		0.746	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		19	25	0	0	0	1	0	19	25				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	149	0	0	0	1	0	5	149				
NCF4	4689	broad.mit.edu	37	22	37266498	37266498	+	Silent	SNP	C	C	T	rs144105468		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:37266498C>T	ENST00000248899.6	+	5	568	c.384C>T	c.(382-384)gaC>gaT	p.D128D	CTA-833B7.2_ENST00000431290.1_RNA|NCF4_ENST00000397147.4_Silent_p.D128D|CTA-833B7.2_ENST00000330602.2_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	128	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	TGGATGAGGACGTCCGGATCT	0.622																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(382-384)gaC>gaT		neutrophil cytosolic factor 4, 40kDa			,	6,4400	11.4+/-27.6	0,6,2197	100.0	87.0	91.0		384,384	0.3	1.0	22	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NCF4	NM_000631.4,NM_013416.3	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	128/340,128/349	37266498	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37266498C>T	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.384C>T	22.37:g.37266498C>T						NCF4_ENST00000248899.6_Silent_p.D128D	p.D128D	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			5	568	+			128			PX.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP	ENST00000248899.6	37	c.384C>T	CCDS13934.1																																																																																				0.622	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		50	19	0	0	0	1	0	50	19				
OR2Z1	284383	broad.mit.edu	37	19	8842045	8842045	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:8842045G>A	ENST00000324060.2	+	1	730	c.655G>A	c.(655-657)Ggc>Agc	p.G219S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCTCCTACGGCCACGTGTT	0.582																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(655-657)Ggc>Agc		olfactory receptor, family 2, subfamily Z, member 1							105.0	87.0	93.0					19																	8842045		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842045G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.655G>A	19.37:g.8842045G>A	ENSP00000316284:p.Gly219Ser						p.G219S	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	730	+			219					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.655G>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	0.052	-1.247291	0.01481	.	.	ENSG00000181733	ENST00000324060	T	0.00051	8.81	4.67	1.37	0.22104	GPCR, rhodopsin-like superfamily (1);	0.544886	0.17782	N	0.162207	T	0.00073	0.0002	N	0.16201	0.385	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.02933	-1.1092	10	0.09338	T	0.73	.	8.3042	0.32032	0.2675:0.0:0.7325:0.0	.	219	Q8NG97	OR2Z1_HUMAN	S	219	ENSP00000316284:G219S	ENSP00000316284:G219S	G	+	1	0	OR2Z1	8703045	0.000000	0.05858	0.024000	0.17045	0.007000	0.05969	0.108000	0.15396	0.181000	0.19994	-0.320000	0.08662	GGC		0.582	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			25	79	0	0	0	1	0	25	79				
INA	9118	broad.mit.edu	37	10	105037228	105037228	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr10:105037228A>G	ENST00000369849.4	+	1	309	c.260A>G	c.(259-261)tAc>tGc	p.Y87C		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	87	Head.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACCAACGAGTACAAGATCATC	0.682																																						ENST00000369849.4																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(259-261)tAc>tGc		internexin neuronal intermediate filament protein, alpha							27.0	27.0	27.0					10																	105037228		2150	4166	6316	SO:0001583	missense	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105037228A>G	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.260A>G	10.37:g.105037228A>G	ENSP00000358865:p.Tyr87Cys						p.Y87C	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	309	+			87			Head.		B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	c.260A>G	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297065	0.60086	.	.	ENSG00000148798	ENST00000369849	D	0.84800	-1.9	4.03	4.03	0.46877	Intermediate filament head, DNA-binding domain (1);	0.062472	0.64402	D	0.000003	D	0.88596	0.6479	L	0.58810	1.83	0.39135	D	0.961934	D	0.65815	0.995	D	0.67231	0.95	D	0.89430	0.3716	10	0.87932	D	0	.	8.4235	0.32714	0.8249:0.0:0.0:0.1751	.	87	Q16352	AINX_HUMAN	C	87	ENSP00000358865:Y87C	ENSP00000358865:Y87C	Y	+	2	0	INA	105027218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.840000	0.48215	1.810000	0.52873	0.379000	0.24179	TAC		0.682	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		4	10	0	0	0	1	0	4	10				
LRRC15	131578	broad.mit.edu	37	3	194080647	194080647	+	Missense_Mutation	SNP	G	G	A	rs530171790		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr3:194080647G>A	ENST00000347624.3	-	2	1211	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C|LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	376					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGTCTGAGGCGGTTGTTCTGC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20433	0.001		0.0	False		,,,				2504	0.0					ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1126-1128)Cgc>Tgc		leucine rich repeat containing 15							61.0	59.0	60.0					3																	194080647		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080647G>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1126C>T	3.37:g.194080647G>A	ENSP00000306276:p.Arg376Cys					LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C|LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C	p.R376C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1211	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		376					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1126C>T	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384715	0.61845	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.60672	0.17;0.17;0.17	5.01	4.07	0.47477	.	0.605862	0.15985	N	0.235129	T	0.67277	0.2876	M	0.67700	2.07	0.50632	D	0.999882	D;D	0.67145	0.996;0.987	P;P	0.57283	0.817;0.629	T	0.64241	-0.6454	10	0.33141	T	0.24	.	12.4989	0.55944	0.0:0.0:0.7088:0.2912	.	376;382	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	C	376;382;382	ENSP00000306276:R376C;ENSP00000389128:R382C;ENSP00000413707:R382C	ENSP00000306276:R376C	R	-	1	0	LRRC15	195561942	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.587000	0.46128	2.500000	0.84329	0.655000	0.94253	CGC		0.587	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			8	13	0	0	0	1	0	8	13				
PCNXL2	80003	broad.mit.edu	37	1	233160996	233160996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:233160996G>A	ENST00000258229.9	-	26	4735	c.4501C>T	c.(4501-4503)Cag>Tag	p.Q1501*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q153*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1501						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TACTGGGTCTGCGTGATTTCC	0.592											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(4501-4503)Cag>Tag		pecanex-like 2 (Drosophila)							151.0	157.0	155.0					1																	233160996		2200	4297	6497	SO:0001587	stop_gained	80003					integral to membrane		g.chr1:233160996G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4501C>T	1.37:g.233160996G>A	ENSP00000258229:p.Gln1501*		OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2363	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q153*	p.Q1501*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			26	4735	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1501					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation	SNP	ENST00000258229.9	37	c.4501C>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	44	10.917698	0.99489	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	.	.	.	5.77	3.87	0.44632	.	0.253681	0.41396	D	0.000892	.	.	.	.	.	.	0.23198	N	0.998138	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	14.3848	0.66938	0.0:0.0:0.6148:0.3852	.	.	.	.	X	153;1501	.	ENSP00000258229:Q1501X	Q	-	1	0	PCNXL2	231227619	0.453000	0.25721	0.002000	0.10522	0.275000	0.26752	2.167000	0.42415	0.867000	0.35654	0.655000	0.94253	CAG		0.592	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		14	124	0	0	0	1	0	14	124				
PURG	29942	broad.mit.edu	37	8	30854163	30854163	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:30854163A>T	ENST00000339382.2	-	2	1847	c.915T>A	c.(913-915)tgT>tgA	p.C305*		NM_001015508.1	NP_001015508.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	0						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GCTTGATTTGACAACAGTGAA	0.338																																						ENST00000339382.2																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12						c.(913-915)tgT>tgA		purine-rich element binding protein G							222.0	211.0	215.0					8																	30854163		2203	4300	6503	SO:0001587	stop_gained	29942					nucleus	DNA binding	g.chr8:30854163A>T	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000339382.2:c.915T>A	8.37:g.30854163A>T	ENSP00000345168:p.Cys305*						p.C305*	NM_001015508.1	NP_001015508.1	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	2	1847	-			0					Q8TE64	Nonsense_Mutation	SNP	ENST00000339382.2	37	c.915T>A	CCDS34878.1	.	.	.	.	.	.	.	.	.	.	A	43	10.065654	0.99329	.	.	ENSG00000172733	ENST00000339382	.	.	.	5.25	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	7.3862	0.26884	0.8135:0.0:0.1865:0.0	.	.	.	.	X	305	.	ENSP00000345168:C305X	C	-	3	2	PURG	30973705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.652000	0.37313	0.907000	0.36646	0.482000	0.46254	TGT		0.338	PURG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348564.1	NM_013357		14	46	0	0	0	1	0	14	46				
GLTSCR1	29998	broad.mit.edu	37	19	48197800	48197800	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:48197800C>T	ENST00000396720.3	+	8	2906	c.2712C>T	c.(2710-2712)tcC>tcT	p.S904S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	904										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CTACGCCATCCGACTTCCAGC	0.701																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(2710-2712)tcC>tcT		glioma tumor suppressor candidate region gene 1							23.0	26.0	25.0					19																	48197800		1970	4132	6102	SO:0001819	synonymous_variant	29998						protein binding	g.chr19:48197800C>T	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2712C>T	19.37:g.48197800C>T						CTD-2571L23.8_ENST00000599924.1_lincRNA	p.S904S	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	8	2906	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	904					A8MW01	Silent	SNP	ENST00000396720.3	37	c.2712C>T	CCDS46134.1																																																																																				0.701	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		31	43	0	0	0	1	0	31	43				
SIGLEC11	114132	broad.mit.edu	37	19	50455562	50455562	+	Missense_Mutation	SNP	C	C	T	rs140702198		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:50455562C>T	ENST00000447370.2	-	9	1831	c.1741G>A	c.(1741-1743)Gtc>Atc	p.V581I	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V485I|U3_ENST00000408198.1_RNA|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	581					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V569I(1)|p.V581I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TACCTGAAGACGACAAGGCAG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18765	0.0		0.0	False		,,,				2504	0.0					ENST00000447370.2																			2	Substitution - Missense(2)	p.V569I(1)|p.V581I(1)	prostate(2)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1741-1743)Gtc>Atc		sialic acid binding Ig-like lectin 11							78.0	78.0	78.0					19																	50455562		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50455562C>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1741G>A	19.37:g.50455562C>T	ENSP00000412361:p.Val581Ile					CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V485I	p.V581I	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	9	1831	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	581						Missense_Mutation	SNP	ENST00000447370.2	37	c.1741G>A	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	0.133	-1.111219	0.01813	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.53857	0.6	3.14	-6.27	0.02026	.	2.248880	0.01854	N	0.036149	T	0.15739	0.0379	N	0.01209	-0.955	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30504	-0.9976	10	0.02654	T	1	.	1.3741	0.02216	0.1835:0.2933:0.1047:0.4185	.	485;581	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	I	581;485	ENSP00000412361:V581I	ENSP00000412361:V581I	V	-	1	0	SIGLEC11	55147374	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.895000	0.01606	-1.594000	0.01615	-3.096000	0.00064	GTC		0.622	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		14	118	0	0	0	1	0	14	118				
TAAR8	83551	broad.mit.edu	37	6	132874647	132874647	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:132874647G>A	ENST00000275200.1	+	1	816	c.816G>A	c.(814-816)ccG>ccA	p.P272P		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	272					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CATGGTTACCGTATACAGTTG	0.413																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(814-816)ccG>ccA		trace amine associated receptor 8							166.0	171.0	169.0					6																	132874647		2203	4300	6503	SO:0001819	synonymous_variant	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874647G>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.816G>A	6.37:g.132874647G>A							p.P272P	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	816	+	Breast(56;0.112)		272					Q5VUQ0	Silent	SNP	ENST00000275200.1	37	c.816G>A	CCDS5154.1																																																																																				0.413	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		4	105	0	0	0	1	0	4	105				
UBASH3A	53347	broad.mit.edu	37	21	43838610	43838610	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr21:43838610C>A	ENST00000319294.6	+	7	969	c.938C>A	c.(937-939)gCc>gAc	p.A313D	RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000291535.6_Missense_Mutation_p.A275D|UBASH3A_ENST00000398367.1_Missense_Mutation_p.A275D	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	313	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CAGGACGAAGCCAGCGAGGGC	0.597																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(937-939)gCc>gAc		ubiquitin associated and SH3 domain containing A							74.0	74.0	74.0					21																	43838610		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43838610C>A	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.938C>A	21.37:g.43838610C>A	ENSP00000317327:p.Ala313Asp					UBASH3A_ENST00000398367.1_Missense_Mutation_p.A275D|UBASH3A_ENST00000291535.6_Missense_Mutation_p.A275D	p.A313D	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			7	969	+			313			SH3.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.938C>A	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404842	0.83230	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.48201	0.82;0.82;0.82	5.13	5.13	0.70059	Src homology-3 domain (4);	0.196756	0.35838	N	0.002954	T	0.52741	0.1753	N	0.20574	0.59	0.80722	D	1	D;D;D	0.69078	0.997;0.991;0.997	D;D;D	0.71414	0.949;0.914;0.973	T	0.57682	-0.7769	10	0.66056	D	0.02	-32.8692	13.9518	0.64123	0.0:0.9247:0.0:0.0753	.	275;275;313	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	D	275;313;275	ENSP00000291535:A275D;ENSP00000317327:A313D;ENSP00000381408:A275D	ENSP00000291535:A275D	A	+	2	0	UBASH3A	42711679	0.854000	0.29725	1.000000	0.80357	0.996000	0.88848	2.686000	0.46968	2.389000	0.81357	0.591000	0.81541	GCC		0.597	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		9	57	1	0	1.12685e-05	1	1.1636e-05	9	57				
OR10J3	441911	broad.mit.edu	37	1	159284152	159284152	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:159284152T>A	ENST00000332217.5	-	1	297	c.298A>T	c.(298-300)Act>Tct	p.T100S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGAGCTGAGTGGCACAGCTT	0.507																																						ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(298-300)Act>Tct		olfactory receptor, family 10, subfamily J, member 3							108.0	104.0	105.0					1																	159284152		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284152T>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.298A>T	1.37:g.159284152T>A	ENSP00000331789:p.Thr100Ser						p.T100S	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	297	-	all_hematologic(112;0.0429)		100						Missense_Mutation	SNP	ENST00000332217.5	37	c.298A>T	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.316355	0.23908	.	.	ENSG00000196266	ENST00000332217	T	0.02974	4.09	5.93	0.992	0.19819	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33792	U	0.004551	T	0.00906	0.0030	L	0.43598	1.365	0.09310	N	1	B	0.23490	0.086	B	0.26094	0.066	T	0.46898	-0.9158	10	0.45353	T	0.12	.	4.5413	0.12058	0.1348:0.2281:0.0:0.6371	.	100	Q5JRS4	O10J3_HUMAN	S	100	ENSP00000331789:T100S	ENSP00000331789:T100S	T	-	1	0	OR10J3	157550776	0.000000	0.05858	0.774000	0.31636	0.650000	0.38633	-1.992000	0.01476	0.125000	0.18397	0.459000	0.35465	ACT		0.507	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			24	53	0	0	0	1	0	24	53				
MAST1	22983	broad.mit.edu	37	19	12977470	12977470	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:12977470G>T	ENST00000251472.4	+	18	2072	c.2033G>T	c.(2032-2034)cGc>cTc	p.R678L		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCCCAGCCCGCTCAGACAGG	0.592																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2032-2034)cGc>cTc		microtubule associated serine/threonine kinase 1							51.0	41.0	45.0					19																	12977470		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12977470G>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2033G>T	19.37:g.12977470G>T	ENSP00000251472:p.Arg678Leu						p.R678L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			18	2072	+			678			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000251472.4	37	c.2033G>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980951	0.92982	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.23147	1.92	4.85	3.76	0.43208	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	M	0.92219	3.285	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.67810	-0.5574	10	0.87932	D	0	-28.7469	12.1364	0.53974	0.0:0.0:0.827:0.173	.	678	Q9Y2H9	MAST1_HUMAN	L	678	ENSP00000251472:R678L	ENSP00000251472:R678L	R	+	2	0	MAST1	12838470	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.776000	0.99001	1.103000	0.41568	0.563000	0.77884	CGC		0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		14	18	1	0	1.05317e-09	1	1.12417e-09	14	18				
LGI3	203190	broad.mit.edu	37	8	22006354	22006354	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:22006354G>A	ENST00000306317.2	-	8	1255	c.966C>T	c.(964-966)gaC>gaT	p.D322D	LGI3_ENST00000424267.2_Silent_p.D298D	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	322					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGCGCTGCGGGTCAATGTCTT	0.612																																						ENST00000306317.2																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(964-966)gaC>gaT		leucine-rich repeat LGI family, member 3							90.0	73.0	79.0					8																	22006354		2203	4300	6503	SO:0001819	synonymous_variant	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22006354G>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.966C>T	8.37:g.22006354G>A						LGI3_ENST00000424267.2_Silent_p.D298D	p.D322D	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1255	-			322					A5PLP2|Q86TL4|Q8N296	Silent	SNP	ENST00000306317.2	37	c.966C>T	CCDS6025.1																																																																																				0.612	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			16	16	0	0	0	1	0	16	16				
LIPE	3991	broad.mit.edu	37	19	42931121	42931121	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:42931121G>C	ENST00000244289.4	-	1	457	c.181C>G	c.(181-183)Cag>Gag	p.Q61E	CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	61					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGGGTCTCCTGCTGGGTGAGG	0.527																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(181-183)Cag>Gag		lipase, hormone-sensitive							149.0	150.0	150.0					19																	42931121		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42931121G>C	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.181C>G	19.37:g.42931121G>C	ENSP00000244289:p.Gln61Glu					LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.Q61E	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			1	457	-		Prostate(69;0.00682)	61					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.181C>G	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129057	0.37533	.	.	ENSG00000079435	ENST00000244289	T	0.21031	2.03	4.5	3.38	0.38709	.	0.379952	0.19399	N	0.115238	T	0.24160	0.0585	M	0.67953	2.075	0.25207	N	0.990002	B	0.27351	0.176	B	0.26517	0.07	T	0.17623	-1.0363	10	0.62326	D	0.03	-9.8524	12.4647	0.55751	0.0:0.1707:0.8293:0.0	.	61	Q05469	LIPS_HUMAN	E	61	ENSP00000244289:Q61E	ENSP00000244289:Q61E	Q	-	1	0	LIPE	47622961	0.941000	0.31946	1.000000	0.80357	0.638000	0.38207	2.226000	0.42963	2.496000	0.84212	0.563000	0.77884	CAG		0.527	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		5	188	0	0	0	1	0	5	188				
RB1CC1	9821	broad.mit.edu	37	8	53596200	53596200	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:53596200G>A	ENST00000025008.5	-	5	801	c.278C>T	c.(277-279)tCg>tTg	p.S93L	RB1CC1_ENST00000539297.1_Missense_Mutation_p.S93L|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S93L|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	93					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATTTTCTGTCGAAAAGGTAGT	0.323																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(277-279)tCg>tTg		RB1-inducible coiled-coil 1							58.0	59.0	58.0					8																	53596200		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53596200G>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.278C>T	8.37:g.53596200G>A	ENSP00000025008:p.Ser93Leu					RB1CC1_ENST00000435644.2_Missense_Mutation_p.S93L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.S93L	p.S93L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			5	801	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	93					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.278C>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121335	0.94385	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297;ENST00000518710	T;T;T	0.15718	2.4;2.4;2.4	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.31638	0.0803	L	0.60455	1.87	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.51895	0.683;0.485	T	0.02471	-1.1154	10	0.66056	D	0.02	-11.4357	19.3152	0.94208	0.0:0.0:1.0:0.0	.	93;93	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	L	93;93;93;41	ENSP00000025008:S93L;ENSP00000396067:S93L;ENSP00000445960:S93L	ENSP00000025008:S93L	S	-	2	0	RB1CC1	53758753	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.420000	0.97426	2.648000	0.89879	0.563000	0.77884	TCG		0.323	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		8	31	0	0	0	1	0	8	31				
NTF3	4908	broad.mit.edu	37	12	5603421	5603421	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:5603421G>A	ENST00000331010.6	+	1	124	c.41G>A	c.(40-42)cGt>cAt	p.R14H	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.R27H	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	14					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GCTTATCTCCGTGGCATCCAA	0.418																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(79-81)cGt>cAt		neurotrophin 3							118.0	113.0	114.0					12																	5603421		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603421G>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.41G>A	12.37:g.5603421G>A	ENSP00000328738:p.Arg14His					NTF3_ENST00000331010.6_Missense_Mutation_p.R14H|NTF3_ENST00000535299.1_Intron	p.R27H	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	292	+			14					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.80G>A	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543988	0.65198	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.46063	0.88;0.88	4.79	4.79	0.61399	.	0.143272	0.49916	D	0.000131	T	0.36331	0.0963	L	0.59436	1.845	0.41172	D	0.986175	P;P	0.42296	0.775;0.775	B;B	0.27500	0.08;0.08	T	0.49978	-0.8881	10	0.62326	D	0.03	-13.7935	17.0016	0.86382	0.0:0.0:1.0:0.0	.	14;27	P20783;B7Z1T5	NTF3_HUMAN;.	H	27;14	ENSP00000397297:R27H;ENSP00000328738:R14H	ENSP00000328738:R14H	R	+	2	0	NTF3	5473682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.752000	0.74898	2.504000	0.84457	0.591000	0.81541	CGT		0.418	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			5	72	0	0	0	1	0	5	72				
TBC1D2	55357	broad.mit.edu	37	9	100963794	100963794	+	Silent	SNP	C	C	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr9:100963794C>A	ENST00000375064.1	-	11	2462	c.2424G>T	c.(2422-2424)cgG>cgT	p.R808R	TBC1D2_ENST00000375066.5_Silent_p.R808R|TBC1D2_ENST00000342112.5_Silent_p.R590R|TBC1D2_ENST00000375063.1_Silent_p.R348R	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	808	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CATCCCAGACCCGAAGGAGGA	0.607																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2422-2424)cgG>cgT		TBC1 domain family, member 2							111.0	78.0	89.0					9																	100963794		2203	4300	6503	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100963794C>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2424G>T	9.37:g.100963794C>A						TBC1D2_ENST00000375063.1_Silent_p.R348R|TBC1D2_ENST00000375064.1_Silent_p.R808R|TBC1D2_ENST00000342112.5_Silent_p.R590R	p.R808R	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	11	2515	-		Myeloproliferative disorder(762;0.0255)	808			Rab-GAP TBC.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.2424G>T																																																																																					0.607	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		5	23	1	0	0.000602214	1	0.000615165	5	23				
THSD7A	221981	broad.mit.edu	37	7	11452289	11452289	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:11452289C>T	ENST00000423059.4	-	18	3927	c.3676G>A	c.(3676-3678)Gta>Ata	p.V1226I	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1226	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTACCTGTTACATTATAATCA	0.423										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(3676-3678)Gta>Ata		thrombospondin, type I, domain containing 7A							124.0	114.0	117.0					7																	11452289		1931	4135	6066	SO:0001583	missense	221981					integral to membrane		g.chr7:11452289C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3676G>A	7.37:g.11452289C>T	ENSP00000406482:p.Val1226Ile	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	p.V1226I	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	18	3927	-			1226			TSP type-1 12.			Missense_Mutation	SNP	ENST00000423059.4	37	c.3676G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638978	0.29157	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61392	0.11	5.39	5.39	0.77823	.	0.052062	0.85682	D	0.000000	T	0.37046	0.0989	N	0.03891	-0.335	0.46849	D	0.999224	B	0.15141	0.012	B	0.17722	0.019	T	0.20240	-1.0281	10	0.19590	T	0.45	.	19.1635	0.93544	0.0:1.0:0.0:0.0	.	1226	Q9UPZ6	THS7A_HUMAN	I	1226	ENSP00000406482:V1226I	ENSP00000262042:V1226I	V	-	1	0	THSD7A	11418814	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	3.867000	0.56047	2.528000	0.85240	0.585000	0.79938	GTA		0.423	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		3	32	0	0	0	1	0	3	32				
RIMBP2	23504	broad.mit.edu	37	12	130919312	130919312	+	Silent	SNP	G	G	A	rs377575822		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:130919312G>A	ENST00000261655.4	-	11	2332	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	RIMBP2_ENST00000536002.1_Silent_p.D631D|RIMBP2_ENST00000535703.1_Silent_p.D631D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	723					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCAGGAAGTCGTCCACCGAGG	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14673	0.0		0.0	False		,,,				2504	0.0					ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2167-2169)gaC>gaT		RIMS binding protein 2		G		0,4406		0,0,2203	74.0	82.0	80.0		2169	-6.2	0.9	12		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RIMBP2	NM_015347.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		723/1053	130919312	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130919312G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2169C>T	12.37:g.130919312G>A						RIMBP2_ENST00000536002.1_Silent_p.D631D|RIMBP2_ENST00000535703.1_Silent_p.D631D	p.D723D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	11	2332	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	723					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.2169C>T	CCDS31925.1																																																																																				0.667	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		20	119	0	0	0	1	0	20	119				
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(484-486)gCt>gTt		laminin, alpha 4							282.0	295.0	291.0					6																	112522827		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112522827G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.485C>T	6.37:g.112522827G>A	ENSP00000230538:p.Ala162Val					LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V	p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	5	882	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	162			Laminin EGF-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.485C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548413	0.65311	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.07	5.2	0.72013	EGF-like, laminin (4);	0.052287	0.85682	N	0.000000	T	0.26340	0.0643	L	0.28115	0.83	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.19582	-1.0301	10	0.05833	T	0.94	.	14.1512	0.65387	0.07:0.0:0.93:0.0	.	162;162	Q16363;Q16363-2	LAMA4_HUMAN;.	V	162	ENSP00000230538:A162V;ENSP00000429488:A162V;ENSP00000374114:A162V;ENSP00000416470:A162V;ENSP00000430336:A162V	ENSP00000230538:A162V	A	-	2	0	LAMA4	112629520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.525000	0.67110	1.547000	0.49401	0.655000	0.94253	GCT		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		5	338	0	0	0	1	0	5	338				
PROZ	8858	broad.mit.edu	37	13	113819403	113819403	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr13:113819403G>A	ENST00000375547.2	+	6	549	c.542G>A	c.(541-543)cGt>cAt	p.R181H	PROZ_ENST00000342783.4_Missense_Mutation_p.R203H|PROZ_ENST00000493630.1_3'UTR|RP11-98F14.11_ENST00000600642.1_RNA	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	181	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCTGAGAAGCGTGCACCGGAT	0.507																																						ENST00000342783.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(607-609)cGt>cAt		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						88.0	83.0	85.0					13																	113819403		2203	4300	6503	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113819403G>A	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.542G>A	13.37:g.113819403G>A	ENSP00000364697:p.Arg181His					PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000375547.2_Missense_Mutation_p.R181H|RP11-98F14.11_ENST00000600642.1_RNA	p.R203H	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	all cancers(43;0.104)		7	615	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	181			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.608G>A	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	G	9.457	1.092222	0.20471	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.92911	-3.13;-3.13	2.8	-1.32	0.09201	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	2.078290	0.02196	N	0.061867	T	0.82033	0.4949	N	0.14661	0.345	0.09310	N	1	P;B	0.35844	0.524;0.008	B;B	0.28139	0.086;0.0	T	0.74867	-0.3518	10	0.87932	D	0	.	3.2578	0.06837	0.431:0.2185:0.3506:0.0	.	203;181	P22891-2;P22891	.;PROZ_HUMAN	H	181;203	ENSP00000364697:R181H;ENSP00000344458:R203H	ENSP00000344458:R203H	R	+	2	0	PROZ	112867404	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-1.072000	0.03434	-0.231000	0.09825	0.313000	0.20887	CGT		0.507	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		5	31	0	0	0	1	0	5	31				
RSPRY1	89970	broad.mit.edu	37	16	57238591	57238591	+	Silent	SNP	C	C	T	rs540967927	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr16:57238591C>T	ENST00000537866.1	+	2	894	c.21C>T	c.(19-21)gcC>gcT	p.A7A	RSPRY1_ENST00000394420.4_Silent_p.A7A			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	7						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TTGGTTGGGCCGTGTTCTTAG	0.463													C|||	5	0.000998403	0.0008	0.0	5008	,	,		20701	0.001		0.0	False		,,,				2504	0.0031					ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(19-21)gcC>gcT		ring finger and SPRY domain containing 1							226.0	240.0	235.0					16																	57238591		2198	4300	6498	SO:0001819	synonymous_variant	89970					extracellular region	zinc ion binding	g.chr16:57238591C>T	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.21C>T	16.37:g.57238591C>T						RSPRY1_ENST00000394420.4_Silent_p.A7A	p.A7A			Q96DX4	RSPRY_HUMAN			2	894	+			7					Q6UX21|Q8ND53	Silent	SNP	ENST00000537866.1	37	c.21C>T	CCDS10775.1																																																																																				0.463	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		36	189	0	0	0	1	0	36	189				
SSH2	85464	broad.mit.edu	37	17	27959167	27959167	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:27959167C>T	ENST00000269033.3	-	15	3115	c.2964G>A	c.(2962-2964)agG>agA	p.R988R	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.R1015R	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	988					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAATCACAGTCCTCAGATCCT	0.517																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2962-2964)agG>agA		slingshot protein phosphatase 2							103.0	94.0	97.0					17																	27959167		2203	4300	6503	SO:0001819	synonymous_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959167C>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2964G>A	17.37:g.27959167C>T						SSH2_ENST00000540801.1_Silent_p.R1015R|RP11-68I3.2_ENST00000581474.1_RNA	p.R988R	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	3115	-			988					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	c.2964G>A	CCDS11253.1																																																																																				0.517	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		8	28	0	0	0	1	0	8	28				
OBSCN	84033	broad.mit.edu	37	1	228437713	228437713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:228437713C>T	ENST00000422127.1	+	14	4125	c.4081C>T	c.(4081-4083)Cag>Tag	p.Q1361*	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q1361*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Q1453*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1361	Ig-like 14.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGAAGGTGCAGGCCGAGGC	0.637																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4357-4359)Cag>Tag		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							64.0	69.0	67.0					1																	228437713		2065	4197	6262	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437713C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4081C>T	1.37:g.228437713C>T	ENSP00000409493:p.Gln1361*					OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q1361*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q1361*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.Q1453*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			15	4431	+		Prostate(94;0.0405)	431			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.4357C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	39	7.667619	0.98422	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	.	.	.	5.31	-0.795	0.10915	.	0.433777	0.21965	N	0.066525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	5.2807	0.15674	0.6054:0.2163:0.0989:0.0794	.	.	.	.	X	1361	.	ENSP00000284548:Q1361X	Q	+	1	0	OBSCN	226504336	0.993000	0.37304	0.116000	0.21606	0.022000	0.10575	0.547000	0.23299	0.104000	0.17725	0.655000	0.94253	CAG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	85	0	0	0	1	0	4	85				
TP53I3	9540	broad.mit.edu	37	2	24307151	24307151	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:24307151A>G	ENST00000238721.4	-	1	900	c.46T>C	c.(46-48)Tac>Cac	p.Y16H	TP53I3_ENST00000313482.4_Missense_Mutation_p.Y16H|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000335934.4_Missense_Mutation_p.Y16H|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000407482.1_Missense_Mutation_p.Y16H	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	16					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTCACGTAGAGGTTTTCC	0.642											OREG0014492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000238721.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12						c.(46-48)Tac>Cac		tumor protein p53 inducible protein 3							57.0	58.0	58.0					2																	24307151		2203	4300	6503	SO:0001583	missense	9540				induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	g.chr2:24307151A>G	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.46T>C	2.37:g.24307151A>G	ENSP00000238721:p.Tyr16His		OREG0014492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	770	FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Missense_Mutation_p.Y16H|TP53I3_ENST00000335934.4_Missense_Mutation_p.Y16H|TP53I3_ENST00000313482.4_Missense_Mutation_p.Y16H|TP53I3_ENST00000417886.1_5'UTR	p.Y16H	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN			1	900	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		16					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation	SNP	ENST00000238721.4	37	c.46T>C	CCDS1708.1	.	.	.	.	.	.	.	.	.	.	A	5.643	0.303358	0.10678	.	.	ENSG00000115129	ENST00000335934;ENST00000238721;ENST00000313482;ENST00000407482;ENST00000413037	T;T;T;T;T	0.16897	2.31;2.31;2.57;2.57;2.57	5.08	3.9	0.45041	GroES-like (1);	0.387053	0.27861	N	0.017550	T	0.07683	0.0193	N	0.03917	-0.325	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.12156	0.007;0.003	T	0.32955	-0.9887	10	0.24483	T	0.36	-1.6318	11.2014	0.48743	0.8457:0.1543:0.0:0.0	.	16;16	Q53FA7;Q53FA7-2	QORX_HUMAN;.	H	16;16;16;16;11	ENSP00000337834:Y16H;ENSP00000238721:Y16H;ENSP00000322298:Y16H;ENSP00000384414:Y16H;ENSP00000389620:Y11H	ENSP00000238721:Y16H	Y	-	1	0	TP53I3	24160655	0.011000	0.17503	0.222000	0.23844	0.409000	0.31022	2.147000	0.42226	0.866000	0.35629	0.533000	0.62120	TAC		0.642	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		5	23	0	0	0	1	0	5	23				
SIGLEC6	946	broad.mit.edu	37	19	52033760	52033760	+	Intron	SNP	G	G	A	rs148934624	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:52033760G>A	ENST00000425629.3	-	4	861				SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000346477.3_Intron|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R240W|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGAGGTGGCCGCCTCAACATC	0.582													G|||	18	0.00359425	0.0015	0.0	5008	,	,		17393	0.0		0.0149	False		,,,				2504	0.001					ENST00000359982.4																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(718-720)Cgg>Tgg		sialic acid binding Ig-like lectin 6		G	,TRP/ARG,,,,	10,3992		0,10,1991	47.0	49.0	48.0		,718,,,,	-1.5	0.0	19	dbSNP_134	48	96,8222		1,94,4064	yes	intron,missense,intron,intron,intron,intron	SIGLEC6	NM_001177547.1,NM_001177548.1,NM_001177549.1,NM_001245.5,NM_198845.4,NM_198846.4	,101,,,,	1,104,6055	AA,AG,GG		1.1541,0.2499,0.8604	,,,,,	,240/390,,,,	52033760	106,12214	2001	4159	6160	SO:0001627	intron_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033760G>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.707-22C>T	19.37:g.52033760G>A						SIGLEC6_ENST00000346477.3_Intron|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000425629.3_Intron	p.R240W	NM_001177548.1	NP_001171019.1	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	4	863	-		all_neural(266;0.0199)	236			Ig-like C2-type 2.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.718C>T	CCDS12834.3	9	0.004120879120879121	0	0.0	0	0.0	0	0.0	9	0.011873350923482849	G	8.596	0.885743	0.17540	0.002499	0.011541	ENSG00000105492	ENST00000359982	T	0.34859	1.34	2.63	-1.46	0.08800	.	.	.	.	.	T	0.11153	0.0272	N	0.14661	0.345	0.09310	N	1	P	0.39044	0.656	B	0.34722	0.188	T	0.14420	-1.0473	8	.	.	.	.	4.5568	0.12140	0.0:0.2167:0.3436:0.4397	.	240	F8WA78	.	W	240	ENSP00000353071:R240W	.	R	-	1	2	SIGLEC6	56725572	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.029000	0.13666	-0.202000	0.10268	0.514000	0.50259	CGG		0.582	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		4	47	0	0	0	1	0	4	47				
ACTR2	10097	broad.mit.edu	37	2	65473766	65473766	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:65473766G>A	ENST00000260641.5	+	3	425	c.268G>A	c.(268-270)Gac>Aac	p.D90N	ACTR2_ENST00000542850.1_Missense_Mutation_p.D35N|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Missense_Mutation_p.D95N	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	90					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						ACACCTGTGGGACTACACATT	0.383																																						ENST00000260641.5																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						c.(268-270)Gac>Aac		ARP2 actin-related protein 2 homolog (yeast)							141.0	148.0	146.0					2																	65473766		2203	4300	6503	SO:0001583	missense	10097				cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding	g.chr2:65473766G>A	AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"""ARP2 (actin-related protein 2, yeast) homolog"""			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.268G>A	2.37:g.65473766G>A	ENSP00000260641:p.Asp90Asn					ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000542850.1_Missense_Mutation_p.D35N|ACTR2_ENST00000377982.4_Missense_Mutation_p.D95N	p.D90N	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN			3	425	+			90					B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Missense_Mutation	SNP	ENST00000260641.5	37	c.268G>A	CCDS1881.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448418	0.63178	.	.	ENSG00000138071	ENST00000260641;ENST00000542850;ENST00000377982;ENST00000535303	D;D;D	0.97505	-4.41;-4.41;-4.41	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.94601	0.8260	N	0.25647	0.755	0.80722	D	1	B;B;B	0.23249	0.082;0.012;0.012	B;B;B	0.30782	0.117;0.059;0.12	D	0.91551	0.5257	10	0.33940	T	0.23	-18.0517	19.0383	0.92987	0.0:0.0:1.0:0.0	.	35;90;95	F5H6T1;P61160;E9PF41	.;ARP2_HUMAN;.	N	90;35;95;35	ENSP00000260641:D90N;ENSP00000437383:D35N;ENSP00000367220:D95N	ENSP00000260641:D90N	D	+	1	0	ACTR2	65327270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.830000	0.99415	2.510000	0.84645	0.561000	0.74099	GAC		0.383	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251730.1	NM_001005386		25	107	0	0	0	1	0	25	107				
ZNF358	140467	broad.mit.edu	37	19	7585112	7585112	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:7585112C>T	ENST00000597229.1	+	2	1154	c.984C>T	c.(982-984)ttC>ttT	p.F328F	MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Silent_p.F328F|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	328					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GCAAAGCCTTCGGGCAGAGCT	0.701																																						ENST00000597229.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(982-984)ttC>ttT		zinc finger protein 358							48.0	52.0	51.0					19																	7585112		2203	4298	6501	SO:0001819	synonymous_variant	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7585112C>T	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.984C>T	19.37:g.7585112C>T						CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Silent_p.F328F	p.F328F	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN			2	1154	+			328					Q9BTM7	Silent	SNP	ENST00000597229.1	37	c.984C>T	CCDS32890.2																																																																																				0.701	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			79	73	0	0	0	1	0	79	73				
FTH1P3	2498	broad.mit.edu	37	5	17354535	17354535	+	lincRNA	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:17354535C>T	ENST00000511821.1	+	0	394				FTH1P10_ENST00000401830.3_RNA																							GTCGTCATGGCGGCGACTAAG	0.682																																						ENST00000511821.1																			0																																																			0							g.chr5:17354535C>T																													5.37:g.17354535C>T						FTH1P10_ENST00000401830.3_RNA								0	394	+									RNA	SNP	ENST00000511821.1	37																																																																																						0.682	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			3	25	0	0	0	1	0	3	25				
CSF2	1437	broad.mit.edu	37	5	131409549	131409549	+	Silent	SNP	T	T	G	rs201520008		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:131409549T>G	ENST00000296871.2	+	1	67	c.33T>G	c.(31-33)acT>acG	p.T11T		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	11					cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|embryonic placenta development (GO:0001892)|epithelial fluid transport (GO:0042045)|immune response (GO:0006955)|macrophage activation (GO:0042116)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of podosome assembly (GO:0071803)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	granulocyte macrophage colony-stimulating factor receptor binding (GO:0005129)			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTTGGGCACTGTGGCCTGCA	0.602																																						ENST00000296871.2																			0				skin(1)	1						c.(31-33)acT>acG		colony stimulating factor 2 (granulocyte-macrophage)	Sargramostim(DB00020)						30.0	35.0	33.0					5																	131409549		2202	4300	6502	SO:0001819	synonymous_variant	1437				immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity	g.chr5:131409549T>G	M11734	CCDS4150.1	5q23-q31	2012-10-02			ENSG00000164400	ENSG00000164400			2434	protein-coding gene	gene with protein product	"""sargramostim"", ""molgramostin"", ""granulocyte-macrophage colony stimulating factor"""	138960				3898082, 2999978	Standard	NM_000758		Approved	GM-CSF, GMCSF	uc003kwf.4	P04141	OTTHUMG00000059637	ENST00000296871.2:c.33T>G	5.37:g.131409549T>G							p.T11T	NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	67	+		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	11					Q14CE8|Q2VPI8|Q8NFI6	Silent	SNP	ENST00000296871.2	37	c.33T>G	CCDS4150.1																																																																																				0.602	CSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132636.2	NM_000758		11	79	0	0	0	1	0	11	79				
CLK4	57396	broad.mit.edu	37	5	178030707	178030707	+	Nonsense_Mutation	SNP	G	G	A	rs368747027		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:178030707G>A	ENST00000316308.4	-	13	1525	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		AACATTCTTCGAACCAGGTCA	0.318													G|||	1	0.000199681	0.0	0.0	5008	,	,		16047	0.001		0.0	False		,,,				2504	0.0					ENST00000316308.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(1357-1359)Cga>Tga		CDC-like kinase 4							90.0	87.0	88.0					5																	178030707		2203	4300	6503	SO:0001587	stop_gained	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178030707G>A	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.1357C>T	5.37:g.178030707G>A	ENSP00000316948:p.Arg453*						p.R453*	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	13	1525	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	453			Protein kinase.			Nonsense_Mutation	SNP	ENST00000316308.4	37	c.1357C>T	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	37	6.161670	0.97338	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	.	.	.	4.89	4.0	0.46444	.	0.296952	0.34603	N	0.003835	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2258	0.54459	0.0:0.0:0.8281:0.1719	.	.	.	.	X	453;345	.	ENSP00000316948:R453X	R	-	1	2	CLK4	177963313	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.510000	0.73729	1.023000	0.39654	-0.282000	0.10007	CGA		0.318	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			14	34	0	0	0	1	0	14	34				
GRM3	2913	broad.mit.edu	37	7	86469169	86469169	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:86469169T>C	ENST00000361669.2	+	4	3438	c.2339T>C	c.(2338-2340)aTc>aCc	p.I780T	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.I652T|GRM3_ENST00000546348.1_Missense_Mutation_p.I372T|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	780					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ACCACGTGCATCATCTGGTTG	0.413																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2338-2340)aTc>aCc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						118.0	110.0	113.0					7																	86469169		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86469169T>C		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2339T>C	7.37:g.86469169T>C	ENSP00000355316:p.Ile780Thr					GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.I372T|GRM3_ENST00000536043.1_Missense_Mutation_p.I652T	p.I780T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	3438	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		780					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2339T>C	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560711	0.65538	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89875	-2.58;-2.58;-2.58	5.64	5.64	0.86602	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94618	0.8265	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.95277	0.8382	10	0.87932	D	0	.	15.0346	0.71734	0.0:0.0:0.0:1.0	.	372;652;780	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	T	780;372;652	ENSP00000355316:I780T;ENSP00000444064:I372T;ENSP00000441407:I652T	ENSP00000355316:I780T	I	+	2	0	GRM3	86307105	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.040000	0.89188	2.148000	0.66965	0.460000	0.39030	ATC		0.413	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			5	135	0	0	0	1	0	5	135				
DLGAP4	22839	broad.mit.edu	37	20	35060649	35060649	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:35060649G>A	ENST00000373907.2	+	2	728	c.529G>A	c.(529-531)Ggc>Agc	p.G177S	DLGAP4_ENST00000373913.3_Missense_Mutation_p.G177S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G177S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G177S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	177					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CATGGAGGACGGCAAGGGCCG	0.642																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(529-531)Ggc>Agc		discs, large (Drosophila) homolog-associated protein 4							39.0	45.0	43.0					20																	35060649		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060649G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.529G>A	20.37:g.35060649G>A	ENSP00000363014:p.Gly177Ser					DLGAP4_ENST00000373907.2_Missense_Mutation_p.G177S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G177S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G177S	p.G177S			Q9Y2H0	DLGP4_HUMAN			3	1009	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	177					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.529G>A		.	.	.	.	.	.	.	.	.	.	G	2.487	-0.318259	0.05386	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.53	1.42	0.22433	.	0.608380	0.18203	N	0.148459	T	0.05914	0.0154	N	0.04880	-0.145	0.26510	N	0.974613	B	0.14012	0.009	B	0.09377	0.004	T	0.33111	-0.9881	10	0.22109	T	0.4	.	2.0965	0.03669	0.2837:0.1207:0.4718:0.1238	.	177	Q9Y2H0-1	.	S	177	ENSP00000363023:G177S;ENSP00000384954:G177S;ENSP00000363014:G177S;ENSP00000341633:G177S	ENSP00000341633:G177S	G	+	1	0	DLGAP4	34494063	1.000000	0.71417	0.883000	0.34634	0.803000	0.45373	1.052000	0.30429	0.037000	0.15575	0.561000	0.74099	GGC		0.642	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		6	88	0	0	0	1	0	6	88				
MTRR	4552	broad.mit.edu	37	5	7900165	7900165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:7900165G>A	ENST00000264668.2	+	15	2202	c.2172G>A	c.(2170-2172)tgG>tgA	p.W724*	MTRR_ENST00000440940.2_Nonsense_Mutation_p.W697*	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	724					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGGATATTTGGTCATAAAACC	0.323																																						ENST00000264668.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(2170-2172)tgG>tgA		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						59.0	63.0	62.0					5																	7900165		2202	4300	6502	SO:0001587	stop_gained	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7900165G>A	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.2172G>A	5.37:g.7900165G>A	ENSP00000264668:p.Trp724*					MTRR_ENST00000440940.2_Nonsense_Mutation_p.W697*	p.W724*	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN			15	2202	+			724					O60471|Q32MA9|Q7Z4M8	Nonsense_Mutation	SNP	ENST00000264668.2	37	c.2172G>A	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	40	8.074143	0.98640	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4475	19.8673	0.96808	0.0:0.0:1.0:0.0	.	.	.	.	X	724;697	.	ENSP00000264668:W724X	W	+	3	0	MTRR	7953165	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	8.832000	0.92079	2.709000	0.92574	0.655000	0.94253	TGG		0.323	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			6	111	0	0	0	1	0	6	111				
TTLL8	164714	broad.mit.edu	37	22	50480124	50480124	+	Silent	SNP	C	C	T	rs372593700	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:50480124C>T	ENST00000266182.6	-	7	755	c.756G>A	c.(754-756)acG>acA	p.T252T	TTLL8_ENST00000440475.1_Silent_p.T252T			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	288	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CATCTGCTGACGTGTCGATGT	0.632													c|||	2	0.000399361	0.0015	0.0	5008	,	,		20046	0.0		0.0	False		,,,				2504	0.0					ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(754-756)acG>acA		tubulin tyrosine ligase-like family, member 8		C		1,4355		0,1,2177	73.0	80.0	78.0		846	-2.9	0.0	22		78	1,8537		0,1,4268	no	coding-synonymous	TTLL8	XM_003403494.1		0,2,6445	TT,TC,CC		0.0117,0.023,0.0155		282/841	50480124	2,12892	2178	4269	6447	SO:0001819	synonymous_variant	164714							g.chr22:50480124C>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.756G>A	22.37:g.50480124C>T						TTLL8_ENST00000440475.1_Silent_p.T252T	p.T252T						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	7	755	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.756G>A																																																																																					0.632	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		9	6	0	0	0	1	0	9	6				
PAMR1	25891	broad.mit.edu	37	11	35463135	35463135	+	Silent	SNP	G	G	A	rs150252565		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:35463135G>A	ENST00000378880.2	-	7	1372	c.927C>T	c.(925-927)acC>acT	p.T309T	PAMR1_ENST00000532848.1_Silent_p.T269T|PAMR1_ENST00000378878.3_Silent_p.T198T|PAMR1_ENST00000278360.3_Silent_p.T326T	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	309	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AAGACACCACGGTGCCAATTT	0.493																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(925-927)acC>acT		peptidase domain containing associated with muscle regeneration 1		G	,	1,4403	2.1+/-5.4	0,1,2201	132.0	130.0	131.0		927,978	-11.5	0.0	11	dbSNP_134	131	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous	PAMR1	NM_001001991.1,NM_015430.2	,	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	,	309/721,326/738	35463135	2,12998	2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35463135G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.927C>T	11.37:g.35463135G>A						PAMR1_ENST00000378878.3_Silent_p.T198T|PAMR1_ENST00000278360.3_Silent_p.T326T|PAMR1_ENST00000532848.1_Silent_p.T269T	p.T309T	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			7	1372	-			309			Sushi 1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.927C>T	CCDS31460.1																																																																																				0.493	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		19	83	0	0	0	1	0	19	83				
ADCK2	90956	broad.mit.edu	37	7	140374051	140374051	+	Silent	SNP	C	C	T	rs375145073		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:140374051C>T	ENST00000072869.4	+	1	1099	c.921C>T	c.(919-921)tcC>tcT	p.S307S	ADCK2_ENST00000476491.1_Silent_p.S307S	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	307	Protein kinase.		S -> P (in dbSNP:rs1140034). {ECO:0000269|PubMed:17344846}.			integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					ACCTCATCTCCGTGGCAGTGA	0.552																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(919-921)tcC>tcT		aarF domain containing kinase 2							43.0	46.0	45.0					7																	140374051		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140374051C>T	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.921C>T	7.37:g.140374051C>T						ADCK2_ENST00000476491.1_Silent_p.S307S	p.S307S	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	1099	+	Melanoma(164;0.00956)		307		S -> P (in dbSNP:rs1140034).	Protein kinase.		Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.921C>T	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	C	5.448	0.267769	0.10294	.	.	ENSG00000133597	ENST00000483369	.	.	.	4.06	-8.12	0.01078	.	.	.	.	.	T	0.35098	0.0920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50980	-0.8763	4	.	.	.	-10.3382	2.17	0.03847	0.3345:0.3283:0.0747:0.2625	.	.	.	.	C	145	.	.	R	+	1	0	ADCK2	140020520	0.000000	0.05858	0.072000	0.20136	0.609000	0.37215	-5.139000	0.00147	-4.175000	0.00067	-0.367000	0.07326	CGT		0.552	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		11	80	0	0	0	1	0	11	80				
OR52M1	119772	broad.mit.edu	37	11	4566788	4566788	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:4566788A>C	ENST00000360213.1	+	1	368	c.368A>C	c.(367-369)gAt>gCt	p.D123A		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCTTTTGATCGCTACGTG	0.537																																						ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(367-369)gAt>gCt		olfactory receptor, family 52, subfamily M, member 1							146.0	127.0	134.0					11																	4566788		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566788A>C	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.368A>C	11.37:g.4566788A>C	ENSP00000353343:p.Asp123Ala						p.D123A	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	368	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	123						Missense_Mutation	SNP	ENST00000360213.1	37	c.368A>C	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.712275	0.68730	.	.	ENSG00000197790	ENST00000360213	T	0.57107	0.42	4.98	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000152	D	0.83585	0.5286	H	0.99842	4.835	0.41016	D	0.985046	D	0.89917	1.0	D	0.87578	0.998	D	0.87208	0.2245	10	0.87932	D	0	.	9.8023	0.40773	0.9176:0.0:0.0824:0.0	.	123	Q8NGK5	O52M1_HUMAN	A	123	ENSP00000353343:D123A	ENSP00000353343:D123A	D	+	2	0	OR52M1	4523364	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	6.034000	0.70933	1.030000	0.39839	0.528000	0.53228	GAT		0.537	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		29	29	0	0	0	1	0	29	29				
OR52E2	119678	broad.mit.edu	37	11	5080741	5080741	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:5080741G>A	ENST00000321522.2	-	1	116	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTATGAGTGCGATCATGTACA	0.512																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(115-117)atC>atT		olfactory receptor, family 52, subfamily E, member 2							122.0	108.0	113.0					11																	5080741		2201	4298	6499	SO:0001819	synonymous_variant	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080741G>A	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.117C>T	11.37:g.5080741G>A							p.I39I	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	116	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	39						Silent	SNP	ENST00000321522.2	37	c.117C>T	CCDS31371.1																																																																																				0.512	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		5	30	0	0	0	1	0	5	30				
KDM4D	55693	broad.mit.edu	37	11	94704160	94704160	+	5'Flank	SNP	G	G	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:94704160G>C	ENST00000335080.5	+	0	0				CWC15_ENST00000279839.6_Missense_Mutation_p.A105G|CWC15_ENST00000545018.1_5'UTR|KDM4D_ENST00000536741.1_5'Flank	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGGGTCATCTGCATCAAGGTT	0.378																																						ENST00000279839.6																			0											c.(313-315)gCa>gGa		CWC15 spliceosome-associated protein homolog (S. cerevisiae)							185.0	181.0	182.0					11																	94704160		1867	4095	5962	SO:0001631	upstream_gene_variant	51503				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding	g.chr11:94704160G>C	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838		11.37:g.94704160G>C	Exception_encountered					CWC15_ENST00000545018.1_5'UTR	p.A105G	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN			4	436	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	105					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.314C>G	CCDS8302.1																																																																																				0.378	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		11	135	0	0	0	1	0	11	135				
OCA2	4948	broad.mit.edu	37	15	28259949	28259949	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr15:28259949C>T	ENST00000354638.3	-	9	1172	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	OCA2_ENST00000353809.5_Silent_p.A339A|OCA2_ENST00000382996.2_Silent_p.A339A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	339					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGTAGACGCCCGCGAGGATGG	0.587									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1015-1017)gcG>gcA		oculocutaneous albinism II							74.0	67.0	69.0					15																	28259949		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28259949C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1017G>A	15.37:g.28259949C>T						OCA2_ENST00000382996.2_Silent_p.A339A|OCA2_ENST00000353809.5_Silent_p.A339A	p.A339A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	9	1172	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	339					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1017G>A	CCDS10020.1																																																																																				0.587	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		14	30	0	0	0	1	0	14	30				
OR4K15	81127	broad.mit.edu	37	14	20444015	20444015	+	Missense_Mutation	SNP	G	G	A	rs139377821	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr14:20444015G>A	ENST00000305051.5	+	1	413	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R113H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTTGAGCGCAAGACTATT	0.453													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22221	0.0		0.0	False		,,,				2504	0.0					ENST00000305051.5																			1	Substitution - Missense(1)	p.R113H(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(337-339)cGc>cAc		olfactory receptor, family 4, subfamily K, member 15							127.0	132.0	130.0					14																	20444015		2203	4297	6500	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444015G>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.338G>A	14.37:g.20444015G>A	ENSP00000304077:p.Arg113His						p.R113H	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	413	+	all_cancers(95;0.00108)		113					B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.338G>A	CCDS32026.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	.	0.001	-3.250918	0.00022	.	.	ENSG00000169488	ENST00000305051	T	0.01584	4.75	3.6	-6.57	0.01842	GPCR, rhodopsin-like superfamily (1);	1.002150	0.08047	N	0.996093	T	0.00754	0.0025	N	0.04655	-0.195	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47302	-0.9128	10	0.02654	T	1	.	7.8035	0.29189	0.5872:0.0:0.3023:0.1105	.	113	Q8NH41	OR4KF_HUMAN	H	113	ENSP00000304077:R113H	ENSP00000304077:R113H	R	+	2	0	OR4K15	19513855	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.348000	0.00503	-1.617000	0.01570	-2.550000	0.00177	CGC		0.453	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			18	65	0	0	0	1	0	18	65				
CILP2	148113	broad.mit.edu	37	19	19654989	19654989	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:19654989C>T	ENST00000291495.5	+	8	1720	c.1635C>T	c.(1633-1635)gcC>gcT	p.A545A	CILP2_ENST00000586018.1_Silent_p.A551A	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	545						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTCGAGGTGCCGGCGTGTACC	0.612																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1651-1653)gcC>gcT		cartilage intermediate layer protein 2							59.0	63.0	62.0					19																	19654989		2203	4300	6503	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654989C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1635C>T	19.37:g.19654989C>T						CILP2_ENST00000291495.4_Silent_p.A545A	p.A551A			Q8IUL8	CILP2_HUMAN			8	1755	+			545					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.1653C>T	CCDS12405.1																																																																																				0.612	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		18	91	0	0	0	1	0	18	91				
CPXCR1	53336	broad.mit.edu	37	X	88008525	88008525	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chrX:88008525A>C	ENST00000276127.4	+	3	369	c.110A>C	c.(109-111)gAt>gCt	p.D37A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D37A	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	37							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCATCTGCTGATCCCAATATG	0.443																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(109-111)gAt>gCt		CPX chromosome region, candidate 1							44.0	40.0	41.0					X																	88008525		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008525A>C	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.110A>C	X.37:g.88008525A>C	ENSP00000276127:p.Asp37Ala					CPXCR1_ENST00000373111.1_Missense_Mutation_p.D37A	p.D37A	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN			3	369	+			37					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.110A>C	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.090446	0.36855	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.28454	1.61;1.61	3.43	2.25	0.28309	.	0.444320	0.16645	N	0.205471	T	0.28896	0.0717	L	0.29908	0.895	0.09310	N	1	D	0.63046	0.992	P	0.55345	0.774	T	0.06180	-1.0841	9	.	.	.	.	4.5772	0.12240	0.8476:0.0:0.1523:0.0	.	37	Q8N123	CPXCR_HUMAN	A	37	ENSP00000276127:D37A;ENSP00000362203:D37A	.	D	+	2	0	CPXCR1	87895181	0.013000	0.17824	0.001000	0.08648	0.009000	0.06853	2.016000	0.40971	0.535000	0.28714	0.481000	0.45027	GAT		0.443	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		9	5	0	0	0	1	0	9	5				
SMARCA4	6597	broad.mit.edu	37	19	11143984	11143984	+	Missense_Mutation	SNP	C	C	G	rs267607070		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:11143984C>G	ENST00000429416.3	+	27	3846	c.3565C>G	c.(3565-3567)Cga>Gga	p.R1189G	SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1189G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1189G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1189G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1189G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1189G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1189	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGCGCAGGACCGAGCCCACCG	0.612			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3565-3567)Cga>Gga		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							52.0	53.0	53.0					19																	11143984		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11143984C>G	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3565C>G	19.37:g.11143984C>G	ENSP00000395654:p.Arg1189Gly					SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1189G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1189G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1189G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1189G	p.R1189G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3849	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1189			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3565C>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636206	0.67130	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.156736	0.43919	D	0.000508	D	0.99739	0.9897	H	0.99982	5.21	0.58432	D	0.99999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.995;1.0;0.999	D	0.96487	0.9361	10	0.87932	D	0	-20.177	16.7067	0.85374	0.0:1.0:0.0:0.0	.	1189;1189;1189;1189;1189;409;1189	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	G	1189;1189;1253;1189;1189;1189;1189;1189	ENSP00000395654:R1189G;ENSP00000350720:R1189G;ENSP00000343896:R1189G;ENSP00000445036:R1189G;ENSP00000392837:R1189G;ENSP00000397783:R1189G;ENSP00000414727:R1189G	ENSP00000343896:R1189G	R	+	1	2	SMARCA4	11004984	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.283000	0.33237	2.488000	0.83962	0.558000	0.71614	CGA		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		4	88	0	0	0	1	0	4	88				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	148	0	0	0	1	0	5	148				
RTTN	25914	broad.mit.edu	37	18	67817253	67817253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr18:67817253C>T	ENST00000255674.6	-	16	2412	c.2126G>A	c.(2125-2127)tGg>tAg	p.W709*	RTTN_ENST00000437017.1_Nonsense_Mutation_p.W709*|RTTN_ENST00000454359.1_Nonsense_Mutation_p.W709*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	709					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAACTTGTTCCAGGTCAATGC	0.428																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2125-2127)tGg>tAg		rotatin							103.0	99.0	101.0					18																	67817253		1945	4148	6093	SO:0001587	stop_gained	25914						binding	g.chr18:67817253C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2126G>A	18.37:g.67817253C>T	ENSP00000255674:p.Trp709*					RTTN_ENST00000437017.1_Nonsense_Mutation_p.W709*|RTTN_ENST00000454359.1_Nonsense_Mutation_p.W709*	p.W709*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			16	2412	-		Esophageal squamous(42;0.129)	709					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	ENST00000255674.6	37	c.2126G>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	39	7.852045	0.98525	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	.	.	.	5.58	5.58	0.84498	.	0.135780	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	.	.	.	X	709	.	ENSP00000255674:W709X	W	-	2	0	RTTN	65968233	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	6.944000	0.75940	2.618000	0.88619	0.563000	0.77884	TGG		0.428	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		6	47	0	0	0	1	0	6	47				
ERBB4	2066	broad.mit.edu	37	2	212652796	212652796	+	Silent	SNP	T	T	C			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:212652796T>C	ENST00000342788.4	-	4	820	c.510A>G	c.(508-510)ccA>ccG	p.P170P	ERBB4_ENST00000402597.1_Silent_p.P170P|ERBB4_ENST00000436443.1_Silent_p.P170P|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	170					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TGGAAGGCCATGGGTTCCGAA	0.363										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(508-510)ccA>ccG		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							104.0	98.0	100.0					2																	212652796		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212652796T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.510A>G	2.37:g.212652796T>C		TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Silent_p.P170P|ERBB4_ENST00000402597.1_Silent_p.P170P|ERBB4_ENST00000484474.1_5'UTR	p.P170P	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	4	820	-		Renal(323;0.06)|Lung NSC(271;0.197)	170					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.510A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347558	0.24426	.	.	ENSG00000178568	ENST00000260943	.	.	.	5.32	-3.82	0.04281	.	.	.	.	.	T	0.36441	0.0967	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35001	-0.9806	4	.	.	.	.	0.9431	0.01359	0.3117:0.3107:0.1252:0.2524	.	.	.	.	R	170	.	.	H	-	2	0	ERBB4	212361041	0.967000	0.33354	0.988000	0.46212	0.992000	0.81027	-0.172000	0.09868	-0.565000	0.06061	0.397000	0.26171	CAT		0.363	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		26	26	0	0	0	1	0	26	26				
CHRNE	1145	broad.mit.edu	37	17	4798523	4798523	+	IGR	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:4798523G>A	ENST00000293780.4	-	0	2455				MINK1_ENST00000453408.3_Missense_Mutation_p.C1004Y|MINK1_ENST00000347992.7_Missense_Mutation_p.C995Y|MINK1_ENST00000355280.6_Missense_Mutation_p.C1024Y	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GAGATCCTCTGTGCAGCCCTT	0.597																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(3070-3072)tGt>tAt		misshapen-like kinase 1							368.0	346.0	353.0					17																	4798523		1980	4154	6134	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4798523G>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4798523G>A						MINK1_ENST00000453408.3_Missense_Mutation_p.C1004Y|MINK1_ENST00000347992.7_Missense_Mutation_p.C995Y	p.C1024Y	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			25	3267	+			1024			CNH.|Mediates interaction with RAP2A.		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.3071G>A	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020155	0.75275	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.05447	3.44;3.44;3.44	5.3	5.3	0.74995	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.64830	0.994;0.988;0.991;0.988	D;D;D;D	0.80764	0.994;0.989;0.993;0.989	T	0.01039	-1.1472	10	0.87932	D	0	.	16.4886	0.84191	0.0:0.0:1.0:0.0	.	987;1004;1024;995	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	Y	1024;1004;995	ENSP00000347427:C1024Y;ENSP00000406487:C1004Y;ENSP00000269296:C995Y	ENSP00000269296:C995Y	C	+	2	0	MINK1	4739299	1.000000	0.71417	0.914000	0.36105	0.863000	0.49368	7.404000	0.79996	2.757000	0.94681	0.655000	0.94253	TGT		0.597	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			13	38	0	0	0	1	0	13	38				
RXFP1	59350	broad.mit.edu	37	4	159566103	159566103	+	Silent	SNP	T	T	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr4:159566103T>G	ENST00000307765.5	+	15	1409	c.1158T>G	c.(1156-1158)gtT>gtG	p.V386V	RXFP1_ENST00000448688.2_Silent_p.V281V|RXFP1_ENST00000460056.2_Silent_p.V305V|RXFP1_ENST00000470033.1_Silent_p.V353V|RXFP1_ENST00000343542.5_Silent_p.V338V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	386					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CACCACATGTTCGCAGCTGTA	0.368																																						ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1156-1158)gtT>gtG		relaxin/insulin-like family peptide receptor 1							96.0	88.0	91.0					4																	159566103		1851	4103	5954	SO:0001819	synonymous_variant	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159566103T>G	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1158T>G	4.37:g.159566103T>G						RXFP1_ENST00000470033.1_Silent_p.V353V|RXFP1_ENST00000460056.2_Silent_p.V305V|RXFP1_ENST00000448688.2_Silent_p.V281V|RXFP1_ENST00000343542.5_Silent_p.V338V	p.V386V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	15	1409	+	all_hematologic(180;0.24)	Renal(120;0.0854)	386					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Silent	SNP	ENST00000307765.5	37	c.1158T>G	CCDS43276.1																																																																																				0.368	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		6	18	0	0	0	1	0	6	18				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	62	0	0	0	1	0	3	62				
PKHD1	5314	broad.mit.edu	37	6	51656142	51656142	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:51656142G>A	ENST00000371117.3	-	53	8607	c.8332C>T	c.(8332-8334)Cca>Tca	p.P2778S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2778S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2778	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTGAAGAATGGAAGATCTGTA	0.453																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8332-8334)Cca>Tca		polycystic kidney and hepatic disease 1 (autosomal recessive)							126.0	106.0	113.0					6																	51656142		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51656142G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8332C>T	6.37:g.51656142G>A	ENSP00000360158:p.Pro2778Ser					PKHD1_ENST00000340994.4_Missense_Mutation_p.P2778S	p.P2778S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			53	8607	-	Lung NSC(77;0.0605)		2778			G8 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8332C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688109	0.68271	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89617	-2.54;-2.54	5.68	5.68	0.88126	G8 domain (2);	0.000000	0.64402	D	0.000001	D	0.93802	0.8018	M	0.74881	2.28	0.44085	D	0.996842	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.93773	0.7077	10	0.66056	D	0.02	.	18.7707	0.91890	0.0:0.0:1.0:0.0	.	2778;2778;2778	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	S	2778	ENSP00000360158:P2778S;ENSP00000341097:P2778S	ENSP00000341097:P2778S	P	-	1	0	PKHD1	51764101	1.000000	0.71417	0.998000	0.56505	0.426000	0.31534	6.537000	0.73847	2.680000	0.91292	0.655000	0.94253	CCA		0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		14	25	0	0	0	1	0	14	25				
SLC52A1	55065	broad.mit.edu	37	17	4937616	4937616	+	Silent	SNP	C	C	T	rs566207091		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:4937616C>T	ENST00000424747.1	-	3	880	c.168G>A	c.(166-168)gcG>gcA	p.A56A	SLC52A1_ENST00000254853.5_Silent_p.A56A|SLC52A1_ENST00000512825.2_Silent_p.A56A	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	56					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										GGTTTCCCAGCGCCACAACCA	0.617													c|||	1	0.000199681	0.0	0.0	5008	,	,		19684	0.0		0.0	False		,,,				2504	0.001					ENST00000512825.2																			0											c.(166-168)gcG>gcA		solute carrier family 52 (riboflavin transporter), member 1							61.0	61.0	61.0					17																	4937616		2203	4300	6503	SO:0001819	synonymous_variant	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4937616C>T	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.168G>A	17.37:g.4937616C>T						SLC52A1_ENST00000424747.1_Silent_p.A56A|SLC52A1_ENST00000254853.5_Silent_p.A56A	p.A56A			Q9NWF4	RFT_HUMAN			3	1579	-			56					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Silent	SNP	ENST00000424747.1	37	c.168G>A	CCDS11066.1																																																																																				0.617	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		9	72	0	0	0	1	0	9	72				
TRPC7	57113	broad.mit.edu	37	5	135601935	135601935	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:135601935C>T	ENST00000513104.1	-	5	1600	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	TRPC7_ENST00000426057.2_Missense_Mutation_p.E324K|TRPC7_ENST00000355180.3_Missense_Mutation_p.E379K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	440					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGAGCATTTCTGTCCAGGAG	0.378																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1318-1320)Gaa>Aaa		transient receptor potential cation channel, subfamily C, member 7							223.0	212.0	215.0					5																	135601935		1875	4113	5988	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135601935C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1318G>A	5.37:g.135601935C>T	ENSP00000426070:p.Glu440Lys					TRPC7_ENST00000355180.3_Missense_Mutation_p.E379K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E324K	p.E440K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	1600	-			440					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1318G>A	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.539792|5.539792	0.96474|0.96474	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;D;T|.	0.82167|.	-1.35;-1.58;-1.39|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83083|0.83083	0.5177|0.5177	M|M	0.85710|0.85710	2.77|2.77	0.58432|0.58432	D|D	0.999999|0.999999	D;B;D;D|.	0.63880|.	0.993;0.142;0.975;0.975|.	D;B;P;P|.	0.64506|.	0.926;0.287;0.858;0.786|.	D|D	0.84247|0.84247	0.0475|0.0475	10|5	0.87932|.	D|.	0|.	-7.1309|-7.1309	19.3071|19.3071	0.94167|0.94167	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	324;379;385;440|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	K|K	379;324;440;440|323;378;384	ENSP00000347312:E379K;ENSP00000441628:E324K;ENSP00000426070:E440K|.	ENSP00000265193:E440K|.	E|R	-|-	1|2	0|0	TRPC7|TRPC7	135629834|135629834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.604000|7.604000	0.82830|0.82830	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.378	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		15	191	0	0	0	1	0	15	191				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	60	0	0	0	1	0	4	60				
KCNG1	3755	broad.mit.edu	37	20	49626567	49626567	+	Silent	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:49626567G>A	ENST00000371571.4	-	2	594	c.309C>T	c.(307-309)aaC>aaT	p.N103N	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Silent_p.N103N	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	103					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CATCGCACACGTTGAGGATGT	0.637																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(307-309)aaC>aaT		potassium voltage-gated channel, subfamily G, member 1							79.0	62.0	68.0					20																	49626567		2203	4300	6503	SO:0001819	synonymous_variant	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626567G>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.309C>T	20.37:g.49626567G>A						KCNG1_ENST00000396017.3_Silent_p.N103N	p.N103N	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			2	594	-			103					A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	c.309C>T	CCDS13436.1																																																																																				0.637	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		10	63	0	0	0	1	0	10	63				
KLRB1	3820	broad.mit.edu	37	12	9760369	9760369	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:9760369G>T	ENST00000229402.3	-	1	113	c.67C>A	c.(67-69)Cct>Act	p.P23T		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	23					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						AGAGATGAAGGTGAAGAACTT	0.413																																						ENST00000229402.3																			0				endometrium(2)|large_intestine(6)|lung(4)	12						c.(67-69)Cct>Act		killer cell lectin-like receptor subfamily B, member 1							204.0	164.0	178.0					12																	9760369		2203	4300	6503	SO:0001583	missense	3820				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9760369G>T	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.67C>A	12.37:g.9760369G>T	ENSP00000229402:p.Pro23Thr						p.P23T	NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN			1	113	-			23					Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	c.67C>A	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214851	0.39102	.	.	ENSG00000111796	ENST00000229402	T	0.35048	1.33	2.89	1.99	0.26369	.	0.000000	0.39615	N	0.001310	T	0.36303	0.0962	L	0.38175	1.15	0.09310	N	1	D	0.65815	0.995	P	0.57425	0.82	T	0.07233	-1.0783	10	0.37606	T	0.19	-0.1412	5.7216	0.17990	0.1509:0.0:0.8491:0.0	.	23	Q12918	KLRB1_HUMAN	T	23	ENSP00000229402:P23T	ENSP00000229402:P23T	P	-	1	0	KLRB1	9651636	0.357000	0.24938	0.020000	0.16555	0.247000	0.25773	0.487000	0.22356	0.778000	0.33520	0.591000	0.81541	CCT		0.413	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258		8	65	1	0	3.09899e-07	1	3.2352e-07	8	65				
GRM8	2918	broad.mit.edu	37	7	126173225	126173225	+	Silent	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:126173225C>T	ENST00000339582.2	-	9	3019	c.2211G>A	c.(2209-2211)agG>agA	p.R737R	GRM8_ENST00000358373.3_Silent_p.R737R|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.R737R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	737					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGAGCACTCCCCTGGCCTTCT	0.473										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2209-2211)agG>agA		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						108.0	92.0	98.0					7																	126173225		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173225C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2211G>A	7.37:g.126173225C>T		HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.R737R|GRM8_ENST00000358373.3_Silent_p.R737R	p.R737R			O00222	GRM8_HUMAN			9	3019	-		Prostate(267;0.186)	737					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2211G>A	CCDS5794.1																																																																																				0.473	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			8	37	0	0	0	1	0	8	37				
ITPR3	3710	broad.mit.edu	37	6	33663364	33663364	+	Intron	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:33663364C>T	ENST00000374316.5	+	59	9007				MIR3934_ENST00000579806.1_RNA|ITPR3_ENST00000605930.1_Intron|SBP1_ENST00000594414.1_Silent_p.A37A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GGCCCTGGCCCGCCGCCAGTG	0.612																																						ENST00000594414.1																			0											c.(109-111)gcG>gcA									13.0	16.0	15.0					6																	33663364		692	1591	2283	SO:0001627	intron_variant	0							g.chr6:33663364C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7948-125C>T	6.37:g.33663364C>T						ITPR3_ENST00000374316.5_Intron|ITPR3_ENST00000605930.1_Intron	p.A37A							1	110	-								Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.111G>A	CCDS4783.1																																																																																				0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		5	19	0	0	0	1	0	5	19				
ARHGAP26	23092	broad.mit.edu	37	5	142500615	142500615	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:142500615C>T	ENST00000274498.4	+	18	1979	c.1601C>T	c.(1600-1602)cCc>cTc	p.P534L	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.P534L	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	534	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGTTTGGACCCACTCTGCTG	0.438																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1600-1602)cCc>cTc		Rho GTPase activating protein 26							155.0	149.0	151.0					5																	142500615		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142500615C>T	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1601C>T	5.37:g.142500615C>T	ENSP00000274498:p.Pro534Leu					ARHGAP26_ENST00000274498.4_Missense_Mutation_p.P534L	p.P534L	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	1956	+		all_hematologic(541;0.0416)	534			Rho-GAP.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.1601C>T	CCDS4277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.007771|5.007771	0.93287|0.93287	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668|ENST00000443674;ENST00000418236	T;T|T;T	0.41065|0.40225	1.01;1.01|1.04;1.04	5.38|5.38	5.38|5.38	0.77491|0.77491	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.76414|0.76414	0.3984|0.3984	H|H	0.95437|0.95437	3.67|3.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;0.999;1.0|.	D|D	0.84111|0.84111	0.0401|0.0401	10|8	0.87932|0.87932	D|D	0|0	.|.	19.1627|19.1627	0.93541|0.93541	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	534;107;534|.	Q9UNA1;B3KT96;Q9UNA1-2|.	RHG26_HUMAN;.;.|.	L|S	534;534;107|153;106	ENSP00000274498:P534L;ENSP00000367243:P534L|ENSP00000393276:P153S;ENSP00000416889:P106S	ENSP00000274498:P534L|ENSP00000416889:P106S	P|P	+|+	2|1	0|0	ARHGAP26|ARHGAP26	142480808|142480808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.487000|7.487000	0.81328|0.81328	2.515000|2.515000	0.84797|0.84797	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.438	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		18	152	0	0	0	1	0	18	152				
ZGRF1	55345	broad.mit.edu	37	4	113461096	113461096	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr4:113461096C>G	ENST00000505019.1	-	27	6220	c.6095G>C	c.(6094-6096)aGg>aCg	p.R2032T	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		2032						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CAACAAATGCCTCTTTCCTCT	0.368																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(6094-6096)aGg>aCg		chromosome 4 open reading frame 21							133.0	121.0	125.0					4																	113461096		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113461096C>G																												ENST00000505019.1:c.6095G>C	4.37:g.113461096C>G	ENSP00000424737:p.Arg2032Thr					RP11-402J6.1_ENST00000504009.1_RNA	p.R2032T	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	27	6220	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.6095G>C		.	.	.	.	.	.	.	.	.	.	C	23.8	4.460458	0.84317	.	.	ENSG00000138658	ENST00000505019	D	0.92545	-3.06	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95089	0.8409	L	0.55743	1.74	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.945;0.976	D	0.95169	0.8288	10	0.66056	D	0.02	-18.8293	19.3603	0.94434	0.0:1.0:0.0:0.0	.	2032;490	G5EA02;B3KQX2	.;.	T	2032	ENSP00000424737:R2032T	ENSP00000424737:R2032T	R	-	2	0	C4orf21	113680545	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.269000	0.65542	2.652000	0.90054	0.561000	0.74099	AGG		0.368	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			21	30	0	0	0	1	0	21	30				
RASGRF1	5923	broad.mit.edu	37	15	79310181	79310181	+	Silent	SNP	C	C	T	rs146264269	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr15:79310181C>T	ENST00000419573.3	-	12	1948	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	RASGRF1_ENST00000558480.2_Silent_p.P558P|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	558	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P558P(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGTAAAGGGCGGGGAATCCT	0.512													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18128	0.0		0.001	False		,,,				2504	0.0					ENST00000419573.3																			1	Substitution - coding silent(1)	p.P558P(1)	central_nervous_system(1)	breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1672-1674)ccG>ccA		Ras protein-specific guanine nucleotide-releasing factor 1		C	,	2,4390	4.2+/-10.8	0,2,2194	127.0	113.0	118.0		1674,1674	-9.5	0.0	15	dbSNP_134	118	0,8586		0,0,4293	no	coding-synonymous,coding-synonymous	RASGRF1	NM_001145648.1,NM_002891.4	,	0,2,6487	TT,TC,CC		0.0,0.0455,0.0154	,	558/1258,558/1274	79310181	2,12976	2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79310181C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1674G>A	15.37:g.79310181C>T						RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P558P	p.P558P	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			12	1948	-			558			PH 2.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.1674G>A	CCDS10309.1																																																																																				0.512	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		27	49	0	0	0	1	0	27	49				
SGK223	157285	broad.mit.edu	37	8	8175831	8175831	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:8175831C>T	ENST00000520004.1	-	6	4318	c.4054G>A	c.(4054-4056)Gac>Aac	p.D1352N	SGK223_ENST00000330777.4_Missense_Mutation_p.D1352N			Q86YV5	SG223_HUMAN		1356							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CGCTTCATGTCGATCCAGTTG	0.677																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(4054-4056)Gac>Aac									93.0	106.0	102.0					8																	8175831		2135	4231	6366	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175831C>T																												ENST00000520004.1:c.4054G>A	8.37:g.8175831C>T	ENSP00000428054:p.Asp1352Asn					SGK223_ENST00000330777.4_Missense_Mutation_p.D1352N	p.D1352N			Q86YV5	SG223_HUMAN			6	4318	-			1352					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.4054G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883748	0.91814	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.12672	2.66;2.66	5.39	4.46	0.54185	Protein kinase-like domain (1);	0.045266	0.85682	D	0.000000	T	0.29684	0.0741	L	0.52011	1.625	0.54753	D	0.999989	D	0.89917	1.0	D	0.64410	0.925	T	0.00673	-1.1616	10	0.52906	T	0.07	.	15.9422	0.79763	0.0:0.8654:0.1346:0.0	.	1352	Q86YV5	SG223_HUMAN	N	1352	ENSP00000330930:D1352N;ENSP00000428054:D1352N	ENSP00000330930:D1352N	D	-	1	0	AC068353.1	8213241	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.910000	0.56371	2.701000	0.92244	0.462000	0.41574	GAC		0.677	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			70	84	0	0	0	1	0	70	84				
KIF4B	285643	broad.mit.edu	37	5	154395583	154395583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:154395583C>T	ENST00000435029.4	+	1	2324	c.2164C>T	c.(2164-2166)Cga>Tga	p.R722*		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	722	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCAGAAACAACGAGAGGTCAC	0.468																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2164-2166)Cga>Tga		kinesin family member 4B							90.0	91.0	90.0					5																	154395583		2203	4300	6503	SO:0001587	stop_gained	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395583C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2164C>T	5.37:g.154395583C>T	ENSP00000387875:p.Arg722*						p.R722*	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2324	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	722			Interaction with PRC1 (By similarity).			Nonsense_Mutation	SNP	ENST00000435029.4	37	c.2164C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.822727	0.90873	.	.	ENSG00000226650	ENST00000435029	.	.	.	2.54	0.325	0.15903	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	4.9047	0.13793	0.4177:0.3762:0.206:0.0	.	.	.	.	X	722	.	ENSP00000387875:R722X	R	+	1	2	KIF4B	154375776	0.993000	0.37304	0.212000	0.23672	0.287000	0.27160	1.245000	0.32790	-0.286000	0.09076	0.563000	0.77884	CGA		0.468	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			4	90	0	0	0	1	0	4	90				
DNAH2	146754	broad.mit.edu	37	17	7700732	7700732	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:7700732G>A	ENST00000572933.1	+	52	9424	c.7964G>A	c.(7963-7965)cGg>cAg	p.R2655Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2655Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2655					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCTCTGACCGGCTGGTTGAT	0.547																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7963-7965)cGg>cAg		dynein, axonemal, heavy chain 2							111.0	114.0	113.0					17																	7700732		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7700732G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7964G>A	17.37:g.7700732G>A	ENSP00000458355:p.Arg2655Gln					DNAH2_ENST00000389173.2_Missense_Mutation_p.R2655Q	p.R2655Q			Q9P225	DYH2_HUMAN			52	9424	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2655					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7964G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333939	0.81801	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.44881	0.91	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.79516	0.4459	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87983	0.2744	10	0.87932	D	0	.	17.4147	0.87496	0.0:0.0:1.0:0.0	.	2655	Q9P225	DYH2_HUMAN	Q	2655	ENSP00000373825:R2655Q	ENSP00000353818:R2655Q	R	+	2	0	DNAH2	7641457	1.000000	0.71417	0.971000	0.41717	0.265000	0.26407	8.653000	0.91088	2.649000	0.89929	0.650000	0.86243	CGG		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	152	0	0	0	1	0	5	152				
KRT33A	3883	broad.mit.edu	37	17	39506828	39506828	+	Silent	SNP	G	G	A	rs144512034		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:39506828G>A	ENST00000007735.3	-	1	236	c.192C>T	c.(190-192)aaC>aaT	p.N64N		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	64	Coil 1A.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CCAGGCGGTCGTTCAGGAACT	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18376	0.0		0.0	False		,,,				2504	0.0					ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(190-192)aaC>aaT		keratin 33A		G		0,4406		0,0,2203	100.0	102.0	102.0		192	-4.7	0.9	17	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KRT33A	NM_004138.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		64/405	39506828	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39506828G>A	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.192C>T	17.37:g.39506828G>A							p.N64N	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			1	236	-		Breast(137;0.000496)	64			Coil 1A.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Silent	SNP	ENST00000007735.3	37	c.192C>T	CCDS11388.1																																																																																				0.622	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		5	104	0	0	0	1	0	5	104				
GRIN2C	2905	broad.mit.edu	37	17	72843053	72843053	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:72843053G>A	ENST00000293190.5	-	10	2154	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	GRIN2C_ENST00000347612.4_Missense_Mutation_p.R670W	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	670					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTTGAGGCCGCTGAAACTGC	0.627																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2008-2010)Cgg>Tgg		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						75.0	71.0	72.0					17																	72843053		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72843053G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2008C>T	17.37:g.72843053G>A	ENSP00000293190:p.Arg670Trp					GRIN2C_ENST00000347612.4_Missense_Mutation_p.R670W	p.R670W	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			10	2154	-	all_lung(278;0.172)|Lung NSC(278;0.207)		670					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.2008C>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706652	0.30232	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.54866	0.55	4.63	0.0175	0.14113	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.215433	0.38959	N	0.001519	T	0.59891	0.2227	L	0.38175	1.15	0.36363	D	0.860823	D;D	0.89917	0.999;1.0	D;D	0.70935	0.956;0.971	T	0.67573	-0.5636	10	0.87932	D	0	.	14.8013	0.69919	0.0:0.0:0.2595:0.7405	.	704;670	Q8IW23;Q14957	.;NMDE3_HUMAN	W	670;704	ENSP00000293190:R670W	ENSP00000293190:R670W	R	-	1	2	GRIN2C	70354648	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	2.552000	0.45828	-0.021000	0.14009	-0.314000	0.08810	CGG		0.627	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			4	90	0	0	0	1	0	4	90				
IGFBP6	3489	broad.mit.edu	37	12	53491737	53491737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:53491737delC	ENST00000301464.3	+	1	509	c.236delC	c.(235-237)gccfs	p.A79fs	IGFBP6_ENST00000548547.1_Frame_Shift_Del_p.A79fs	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	79	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						CCTAACTGCGCCCCAGGACTG	0.726																																					Esophageal Squamous(83;1656 1718 30141 34380)	ENST00000548547.1																			0				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						c.(235-237)gcfs		insulin-like growth factor binding protein 6							6.0	5.0	5.0					12																	53491737		2049	4077	6126	SO:0001589	frameshift_variant	3489				negative regulation of cell proliferation|regulation of cell growth|signal transduction			g.chr12:53491737delC		CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.236delC	12.37:g.53491737delC	ENSP00000301464:p.Ala79fs					IGFBP6_ENST00000301464.3_Frame_Shift_Del_p.A79fs	p.A79fs			P24592	IBP6_HUMAN			1	518	+			79			IGFBP N-terminal.		Q14492	Frame_Shift_Del	DEL	ENST00000301464.3	37	c.236delC	CCDS8846.1																																																																																				0.726	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1			2	4						2	4	---	---	---	---
