#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
NFX1	4799	broad.mit.edu	37	9	33313652	33313652	+	Splice_Site	SNP	G	G	T	rs557655235	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:33313652G>T	ENST00000379540.3	+	7	1511	c.1449G>T	c.(1447-1449)agG>agT	p.R483S	NFX1_ENST00000318524.6_Splice_Site_p.R483S|NFX1_ENST00000379521.4_Splice_Site_p.R483S	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	483					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTCTTTACAGGCACACAGTTC	0.478																																						ENST00000379540.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.e7-1		nuclear transcription factor, X-box binding 1							152.0	138.0	143.0					9																	33313652		2203	4300	6503	SO:0001630	splice_region_variant	0				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33313652G>T	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1449-1G>T	9.37:g.33313652G>T						NFX1_ENST00000379521.4_Splice_Site_p.R483_splice|NFX1_ENST00000318524.6_Splice_Site_p.R483_splice	p.R483_splice	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	7	1511	+			483					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Splice_Site	SNP	ENST00000379540.3	37	c.1448_splice	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	1.616	-0.522805	0.04141	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.39787	1.06;1.06;1.06	5.4	3.39	0.38822	.	0.042974	0.85682	D	0.000000	T	0.11067	0.0270	N	0.00630	-1.315	0.31195	N	0.700508	B;B;B;B;B	0.13145	0.007;0.004;0.0;0.002;0.001	B;B;B;B;B	0.09377	0.003;0.001;0.001;0.002;0.004	T	0.14839	-1.0458	9	.	.	.	.	5.348	0.16020	0.1047:0.0:0.6469:0.2485	.	483;367;483;483;483	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	S	483	ENSP00000368856:R483S;ENSP00000368836:R483S;ENSP00000317695:R483S	.	R	+	3	2	NFX1	33303652	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	4.477000	0.60223	1.282000	0.44496	0.579000	0.79373	AGG		0.478	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		Missense_Mutation	32	56	1	0	4.11147e-13	1	4.47425e-13	32	56				
GRID2	2895	broad.mit.edu	37	4	94344041	94344041	+	Silent	SNP	C	C	T	rs140894316	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:94344041C>T	ENST00000282020.4	+	10	1725	c.1467C>T	c.(1465-1467)taC>taT	p.Y489Y	GRID2_ENST00000510992.1_Silent_p.Y394Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	489					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.Y489*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ACGAAATTTACGTAGCACCGG	0.398													C|||	5	0.000998403	0.0038	0.0	5008	,	,		17481	0.0		0.0	False		,,,				2504	0.0					ENST00000282020.4																			1	Substitution - Nonsense(1)	p.Y489*(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1465-1467)taC>taT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)	C		14,4392	21.2+/-45.6	0,14,2189	119.0	120.0	120.0		1467	1.5	1.0	4	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRID2	NM_001510.2		0,15,6488	TT,TC,CC		0.0116,0.3177,0.1153		489/1008	94344041	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94344041C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1467C>T	4.37:g.94344041C>T						GRID2_ENST00000510992.1_Silent_p.Y394Y	p.Y489Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1725	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	489					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.1467C>T	CCDS3637.1																																																																																				0.398	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			19	34	0	0	0	1	0	19	34				
SNHG14	104472715	broad.mit.edu	37	15	25465676	25465676	+	RNA	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr15:25465676A>G	ENST00000424208.1	+	0	3039				SNORD115-28_ENST00000363931.1_RNA|SNORD115-29_ENST00000362834.1_RNA|SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000453082.2_RNA|SNHG14_ENST00000365067.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATTGTCCTGAAAAGAGGTGAT	0.502																																						ENST00000424208.1																			0																																																			0							g.chr15:25465676A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25465676A>G						SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000453082.2_RNA		NR_003305.1						0	3039	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.502	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			49	109	0	0	0	1	0	49	109				
GEMIN4	50628	broad.mit.edu	37	17	649822	649822	+	Silent	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr17:649822G>A	ENST00000319004.5	-	2	1579	c.1461C>T	c.(1459-1461)taC>taT	p.Y487Y	GEMIN4_ENST00000576778.1_Silent_p.Y476Y	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	487					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGAGGTCTGCGTAACATTCCA	0.537																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1426-1428)taC>taT		gem (nuclear organelle) associated protein 4							33.0	35.0	35.0					17																	649822		1960	4153	6113	SO:0001819	synonymous_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:649822G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1461C>T	17.37:g.649822G>A						GEMIN4_ENST00000319004.5_Silent_p.Y487Y	p.Y476Y			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2769	-		Myeloproliferative disorder(207;0.204)	487					Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	c.1428C>T	CCDS45559.1																																																																																				0.537	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		14	28	0	0	0	1	0	14	28				
NFX1	4799	broad.mit.edu	37	9	33313653	33313653	+	Splice_Site	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:33313653C>T	ENST00000379540.3	+	7	1512	c.1450C>T	c.(1450-1452)Cac>Tac	p.H484Y	NFX1_ENST00000318524.6_Splice_Site_p.H484Y|NFX1_ENST00000379521.4_Splice_Site_p.H484Y	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	484					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCTTTACAGGCACACAGTTCG	0.483																																						ENST00000379540.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.e7-1		nuclear transcription factor, X-box binding 1							153.0	139.0	144.0					9																	33313653		2203	4300	6503	SO:0001630	splice_region_variant	0				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33313653C>T	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1449-1C>T	9.37:g.33313653C>T						NFX1_ENST00000379521.4_Splice_Site_p.H484_splice|NFX1_ENST00000318524.6_Splice_Site_p.H484_splice	p.H484_splice	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	7	1512	+			484					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Splice_Site	SNP	ENST00000379540.3	37	c.1448_splice	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489158	0.44249	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.28666	1.6;1.6;1.6	5.4	5.4	0.78164	.	0.057309	0.85682	D	0.000000	T	0.34861	0.0912	N	0.15975	0.35	0.34501	D	0.706057	D;D;B;D;B	0.76494	0.999;0.976;0.009;0.975;0.031	D;P;B;P;B	0.65010	0.931;0.558;0.029;0.743;0.054	T	0.40403	-0.9565	10	0.27082	T	0.32	-4.5428	14.7195	0.69294	0.0:1.0:0.0:0.0	.	484;368;484;484;484	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	Y	484	ENSP00000368856:H484Y;ENSP00000368836:H484Y;ENSP00000317695:H484Y	ENSP00000317695:H484Y	H	+	1	0	NFX1	33303653	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	4.617000	0.61204	2.538000	0.85594	0.579000	0.79373	CAC		0.483	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		Missense_Mutation	33	57	0	0	0	1	0	33	57				
ZNF317	57693	broad.mit.edu	37	19	9270907	9270907	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:9270907C>T	ENST00000247956.6	+	7	891	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	ZNF317_ENST00000360385.3_Missense_Mutation_p.R164C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCCCTATCACCGCCGCGACTA	0.537																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(586-588)Cgc>Tgc		zinc finger protein 317							71.0	56.0	61.0					19																	9270907		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9270907C>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.586C>T	19.37:g.9270907C>T	ENSP00000247956:p.Arg196Cys					ZNF317_ENST00000360385.3_Missense_Mutation_p.R164C	p.R196C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	891	+			196					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.586C>T	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	C	8.286	0.816611	0.16607	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.04083	3.71;3.71	3.34	2.3	0.28687	.	0.347798	0.21283	N	0.077105	T	0.00845	0.0028	N	0.00112	-2.095	0.39073	D	0.960761	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39860	-0.9593	10	0.02654	T	1	-16.5548	5.6319	0.17516	0.0:0.7497:0.0:0.2503	.	164;196	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	C	196;164	ENSP00000247956:R196C;ENSP00000353554:R164C	ENSP00000247956:R196C	R	+	1	0	ZNF317	9131907	0.249000	0.23941	0.052000	0.19188	0.930000	0.56654	1.360000	0.34125	0.977000	0.38444	0.591000	0.81541	CGC		0.537	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		9	13	0	0	0	1	0	9	13				
PCDHA10	56139	broad.mit.edu	37	5	140235770	140235770	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr5:140235770G>A	ENST00000307360.5	+	1	137	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R46H|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	46	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(136-138)cGc>cAc									48.0	55.0	53.0					5																	140235770		2196	4269	6465	SO:0001583	missense	0							g.chr5:140235770G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.137G>A	5.37:g.140235770G>A	ENSP00000304234:p.Arg46His					PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R46H|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.R46H	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	137	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.137G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373889	0.42105	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.27256	1.68;1.68	4.27	4.27	0.50696	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.27765	0.0683	M	0.69185	2.1	0.21675	N	0.999599	P;P;P	0.52692	0.955;0.848;0.468	B;B;B	0.41332	0.354;0.282;0.097	T	0.27226	-1.0080	9	0.59425	D	0.04	.	9.3741	0.38272	0.1663:0.0:0.8337:0.0	.	46;46;46	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	H	46	ENSP00000421030:R46H;ENSP00000304234:R46H	ENSP00000304234:R46H	R	+	2	0	PCDHA10	140215954	0.013000	0.17824	1.000000	0.80357	0.890000	0.51754	2.142000	0.42177	2.391000	0.81399	0.556000	0.70494	CGC		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		4	130	0	0	0	1	0	4	130				
SLC17A6	57084	broad.mit.edu	37	11	22380963	22380963	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr11:22380963T>A	ENST00000263160.3	+	4	900	c.463T>A	c.(463-465)Ttc>Atc	p.F155I	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	155					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTTCAGGGTTTTCGGAGCTGC	0.358																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(463-465)Ttc>Atc		solute carrier family 17 (vesicular glutamate transporter), member 6							107.0	98.0	101.0					11																	22380963		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22380963T>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.463T>A	11.37:g.22380963T>A	ENSP00000263160:p.Phe155Ile						p.F155I	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			4	900	+			155					A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.463T>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	T	30	5.050669	0.93740	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.58358	0.34	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	L	0.58354	1.805	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.70898	-0.4747	10	0.56958	D	0.05	.	15.5156	0.75822	0.0:0.0:0.0:1.0	.	155	Q9P2U8	VGLU2_HUMAN	I	155;43	ENSP00000263160:F155I	ENSP00000263160:F155I	F	+	1	0	SLC17A6	22337539	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.698000	0.84413	2.131000	0.65755	0.477000	0.44152	TTC		0.358	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		13	25	0	0	0	1	0	13	25				
OR10K2	391107	broad.mit.edu	37	1	158390007	158390007	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:158390007G>T	ENST00000314902.2	-	1	649	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	217						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)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GTGAACATAGGACACCAAGAT	0.448																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(649-651)tCc>tAc		olfactory receptor, family 10, subfamily K, member 2							152.0	141.0	144.0					1																	158390007		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390007G>T	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.650C>A	1.37:g.158390007G>T	ENSP00000324251:p.Ser217Tyr						p.S217Y	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	649	-	all_hematologic(112;0.0378)		217						Missense_Mutation	SNP	ENST00000314902.2	37	c.650C>A	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.863787	0.32884	.	.	ENSG00000180708	ENST00000314902	T	0.46063	0.88	4.13	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000322	T	0.72669	0.3489	H	0.97390	3.995	0.43330	D	0.995364	D	0.89917	1.0	D	0.91635	0.999	D	0.83575	0.0114	10	0.87932	D	0	.	15.662	0.77193	0.0:0.0:1.0:0.0	.	217	Q6IF99	O10K2_HUMAN	Y	217	ENSP00000324251:S217Y	ENSP00000324251:S217Y	S	-	2	0	OR10K2	156656631	1.000000	0.71417	0.276000	0.24689	0.073000	0.16967	7.209000	0.77916	2.285000	0.76669	0.461000	0.40582	TCC		0.448	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		24	39	1	0	1.55469e-16	1	1.71712e-16	24	39				
VCP	7415	broad.mit.edu	37	9	35062993	35062993	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:35062993A>C	ENST00000358901.6	-	7	1688	c.793T>G	c.(793-795)Ttc>Gtc	p.F265V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	265					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGAAGAAGAAGGCTCCAGTC	0.468																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(793-795)Ttc>Gtc		valosin containing protein							208.0	204.0	206.0					9																	35062993		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35062993A>C	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.793T>G	9.37:g.35062993A>C	ENSP00000351777:p.Phe265Val						p.F265V	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1688	-			265					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.793T>G	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.949812	0.92660	.	.	ENSG00000165280	ENST00000358901	D	0.94687	-3.49	5.9	5.9	0.94986	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.93038	0.7784	N	0.03608	-0.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95489	0.8567	10	0.72032	D	0.01	-20.8728	16.3317	0.83023	1.0:0.0:0.0:0.0	.	265	P55072	TERA_HUMAN	V	265	ENSP00000351777:F265V	ENSP00000351777:F265V	F	-	1	0	VCP	35052993	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	9.339000	0.96797	2.264000	0.75181	0.533000	0.62120	TTC		0.468	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		27	86	0	0	0	1	0	27	86				
GPR98	84059	broad.mit.edu	37	5	90078963	90078963	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr5:90078963C>G	ENST00000405460.2	+	66	13350	c.13254C>G	c.(13252-13254)atC>atG	p.I4418M	GPR98_ENST00000425867.2_Missense_Mutation_p.I79M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4418	Calx-beta 30. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGGCTGATCATGATCCCAG	0.448																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13252-13254)atC>atG		G protein-coupled receptor 98							200.0	195.0	197.0					5																	90078963		2038	4198	6236	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90078963C>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13254C>G	5.37:g.90078963C>G	ENSP00000384582:p.Ile4418Met					GPR98_ENST00000425867.2_Missense_Mutation_p.I79M	p.I4418M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	66	13350	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4418					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.13254C>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705909	0.30232	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.32023	1.47;1.47	6.17	1.46	0.22682	Na-Ca exchanger/integrin-beta4 (2);	0.605223	0.18225	N	0.147753	T	0.27731	0.0682	L	0.45137	1.4	0.09310	N	1	B;B;B	0.33826	0.317;0.427;0.141	B;B;B	0.41174	0.349;0.34;0.201	T	0.21245	-1.0251	10	0.62326	D	0.03	.	5.6594	0.17660	0.1187:0.5026:0.0:0.3787	.	79;4418;79	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	M	4418;4418;79	ENSP00000384582:I4418M;ENSP00000392618:I79M	ENSP00000296619:I4418M	I	+	3	3	GPR98	90114719	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.203000	0.09438	-0.016000	0.14127	0.655000	0.94253	ATC		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		63	112	0	0	0	1	0	63	112				
COL10A1	1300	broad.mit.edu	37	6	116442816	116442816	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr6:116442816G>A	ENST00000327673.4	-	2	870	c.463C>T	c.(463-465)Cca>Tca	p.P155S	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P155S			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	155	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGTTTTCCTGGCACAGAAATT	0.592																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(463-465)Cca>Tca		collagen, type X, alpha 1							34.0	37.0	36.0					6																	116442816		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442816G>A		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.463C>T	6.37:g.116442816G>A	ENSP00000327368:p.Pro155Ser					NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P155S	p.P155S			Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	2	870	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	155			Triple-helical region.		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.463C>T	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	A	3.573	-0.087179	0.07097	.	.	ENSG00000123500	ENST00000243222;ENST00000327673;ENST00000452729	D;D;D	0.96587	-4.06;-4.06;-3.64	5.55	-11.1	0.00147	.	0.928546	0.09133	N	0.844075	D	0.87418	0.6172	M	0.68317	2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67133	-0.5747	10	0.40728	T	0.16	.	11.2582	0.49067	0.0934:0.2044:0.5736:0.1286	.	155	Q03692	COAA1_HUMAN	S	155	ENSP00000243222:P155S;ENSP00000327368:P155S;ENSP00000411285:P155S	ENSP00000243222:P155S	P	-	1	0	COL10A1	116549509	0.000000	0.05858	0.007000	0.13788	0.649000	0.38597	-3.179000	0.00569	-3.162000	0.00227	-1.180000	0.01717	CCA		0.592	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			17	16	0	0	0	1	0	17	16				
INTS4L1	285905	broad.mit.edu	37	7	64661057	64661057	+	RNA	SNP	C	C	T	rs62469298	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr7:64661057C>T	ENST00000587624.1	+	0	1358							Q96LV5	IN4L1_HUMAN	integrator complex subunit 4-like 1																		AGTGATTTGGCCTCAGCAGCA	0.517																																						ENST00000587624.1																			0																																																			0							g.chr7:64661057C>T			7q11.21	2013-03-26			ENSG00000164669	ENSG00000164669			21925	other	unknown							Standard	XR_426205		Approved	FLJ25037		Q96LV5	OTTHUMG00000156510		7.37:g.64661057C>T														0	1358	+									RNA	SNP	ENST00000587624.1	37																																																																																						0.517	INTS4L1-002	KNOWN	non_canonical_conserved|basic	processed_transcript	pseudogene	OTTHUMT00000460821.1	XR_041315		11	30	0	0	0	1	0	11	30				
KMT2C	58508	broad.mit.edu	37	7	151921662	151921662	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr7:151921662C>G	ENST00000262189.6	-	19	3234	c.3016G>C	c.(3016-3018)Gag>Cag	p.E1006Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.E1006Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1006					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACAGTGCACTCAAGACACCTC	0.433																																						ENST00000355193.2																			0											c.(3016-3018)Gag>Cag		lysine (K)-specific methyltransferase 2C							12.0	11.0	11.0					7																	151921662		2160	4234	6394	SO:0001583	missense	58508							g.chr7:151921662C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3016G>C	7.37:g.151921662C>G	ENSP00000262189:p.Glu1006Gln					KMT2C_ENST00000262189.6_Missense_Mutation_p.E1006Q	p.E1006Q							19	3234	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3016G>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.69|19.69	3.874233|3.874233	0.72180|0.72180	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.88277|.	-2.36;-2.36|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.46758|.	D|.	0.000265|.	T|.	0.66944|.	0.2841|.	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.85130|.	0.996;0.997|.	T|.	0.64445|.	-0.6406|.	10|.	0.72032|.	D|.	0.01|.	.|.	17.9358|17.9358	0.89012|0.89012	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1006;67|.	Q8NEZ4;Q8NEZ4-2|.	MLL3_HUMAN;.|.	Q|S	1006|161	ENSP00000262189:E1006Q;ENSP00000347325:E1006Q|.	ENSP00000262189:E1006Q|.	E|X	-|-	1|2	0|2	MLL3|MLL3	151552595|151552595	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.999000|0.999000	0.98932|0.98932	7.767000|7.767000	0.85331|0.85331	2.236000|2.236000	0.73375|0.73375	0.650000|0.650000	0.86243|0.86243	GAG|TGA		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	15	0	0	0	1	0	9	15				
TTN	7273	broad.mit.edu	37	2	179430936	179430936	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr2:179430936C>A	ENST00000591111.1	-	276	75224	c.75000G>T	c.(74998-75000)aaG>aaT	p.K25000N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K26641N|TTN_ENST00000460472.2_Missense_Mutation_p.K17576N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24073N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17701N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K17768N			Q8WZ42	TITIN_HUMAN	titin	25000	Ig-like 123.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTACTCCCTTTTCAATTT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(79921-79923)aaG>aaT		titin							132.0	127.0	128.0					2																	179430936		1873	4109	5982	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430936C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75000G>T	2.37:g.179430936C>A	ENSP00000465570:p.Lys25000Asn					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K25000N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K17768N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17576N|TTN_ENST00000359218.5_Missense_Mutation_p.K17701N|TTN_ENST00000342992.6_Missense_Mutation_p.K24073N|TTN-AS1_ENST00000419746.1_RNA	p.K26641N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	80147	-			25000			Fibronectin type-III 94.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.79923G>T		.	.	.	.	.	.	.	.	.	.	C	8.926	0.962262	0.18583	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.82	2.36	0.29203	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46171	0.1379	N	0.05199	-0.095	0.42195	D	0.991749	P;P;P;P	0.43231	0.801;0.801;0.801;0.801	B;B;B;B	0.43225	0.339;0.339;0.339;0.412	T	0.50162	-0.8860	9	0.87932	D	0	.	8.8507	0.35199	0.0:0.5403:0.0:0.4597	.	17576;17701;17768;25000	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	24073;17576;17768;17701;17574	ENSP00000343764:K24073N;ENSP00000434586:K17576N;ENSP00000340554:K17768N;ENSP00000352154:K17701N	ENSP00000340554:K17768N	K	-	3	2	TTN	179139182	0.873000	0.30073	1.000000	0.80357	0.989000	0.77384	-0.022000	0.12480	0.696000	0.31696	0.555000	0.69702	AAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	151	1	0	1	1	1	4	151				
PTPRU	10076	broad.mit.edu	37	1	29587401	29587401	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:29587401G>A	ENST00000345512.3	+	7	1259	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	PTPRU_ENST00000323874.8_Missense_Mutation_p.R377H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R377H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R377H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R377H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R377H	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	377	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTCATCAGCCGCACCAAATGC	0.677																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1129-1131)cGc>cAc		protein tyrosine phosphatase, receptor type, U							24.0	26.0	25.0					1																	29587401		2191	4283	6474	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29587401G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1130G>A	1.37:g.29587401G>A	ENSP00000334941:p.Arg377His					PTPRU_ENST00000428026.2_Missense_Mutation_p.R377H|PTPRU_ENST00000345512.3_Missense_Mutation_p.R377H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R377H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R377H|PTPRU_ENST00000323874.8_Missense_Mutation_p.R377H	p.R377H	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	7	1259	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	377			Fibronectin type-III 1.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1130G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819610	0.71028	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77;-3.77	5.22	5.22	0.72569	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.94614	0.8264	M	0.83384	2.64	0.58432	D	0.999999	B;B;B;B;B	0.31485	0.325;0.325;0.325;0.218;0.218	B;B;B;B;B	0.15484	0.013;0.013;0.013;0.006;0.006	D	0.93626	0.6952	9	.	.	.	.	17.7715	0.88494	0.0:0.0:1.0:0.0	.	377;377;377;377;377	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	377	ENSP00000334941:R377H;ENSP00000362884:R377H;ENSP00000349333:R377H;ENSP00000314987:R377H;ENSP00000392332:R377H;ENSP00000432906:R377H	.	R	+	2	0	PTPRU	29459988	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	9.860000	0.99555	2.418000	0.82041	0.462000	0.41574	CGC		0.677	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			19	19	0	0	0	1	0	19	19				
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C	rs62009901		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498																																						ENST00000557886.1																			12	Substitution - coding silent(12)	p.V159V(12)	kidney(6)|endometrium(4)|prostate(2)	endometrium(6)|kidney(5)|prostate(1)	12						c.(475-477)gtA>gtG																																						SO:0001819	synonymous_variant	0							g.chr15:83014106T>C																												ENST00000557886.1:c.477A>G	15.37:g.83014106T>C							p.V159V							6	576	-									Silent	SNP	ENST00000557886.1	37	c.477A>G																																																																																					0.498	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1			3	2	0	0	0	1	0	3	2				
ACTN1	87	broad.mit.edu	37	14	69341705	69341705	+	Silent	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr14:69341705G>A	ENST00000193403.6	-	21	2933	c.2550C>T	c.(2548-2550)cgC>cgT	p.R850R	ACTN1_ENST00000376839.3_Silent_p.R780R|ACTN1_ENST00000538545.2_Silent_p.R888R|ACTN1_ENST00000438964.2_Silent_p.R845R|ACTN1_ENST00000394419.4_Silent_p.R872R	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	850					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GTGGCAGCTCGCGGCGCAGCT	0.652																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(2548-2550)cgC>cgT		actinin, alpha 1							35.0	35.0	35.0					14																	69341705		2203	4299	6502	SO:0001819	synonymous_variant	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69341705G>A	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.2550C>T	14.37:g.69341705G>A						ACTN1_ENST00000538545.2_Silent_p.R888R|ACTN1_ENST00000438964.2_Silent_p.R845R|ACTN1_ENST00000394419.4_Silent_p.R872R|ACTN1_ENST00000376839.3_Silent_p.R780R	p.R850R	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	21	2933	-			850					B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	ENST00000193403.6	37	c.2550C>T	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.305257	0.01353	.	.	ENSG00000072110	ENST00000555075	.	.	.	4.68	-9.36	0.00629	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63998	-0.6510	4	.	.	.	.	2.8525	0.05562	0.3578:0.137:0.3496:0.1556	.	.	.	.	V	209	.	.	A	-	2	0	ACTN1	68411458	0.000000	0.05858	0.005000	0.12908	0.059000	0.15707	-2.293000	0.01145	-6.038000	0.00007	-2.322000	0.00252	GCG		0.652	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		3	39	0	0	0	1	0	3	39				
ZNF208	7757	broad.mit.edu	37	19	22156491	22156491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:22156491C>A	ENST00000397126.4	-	4	1493	c.1345G>T	c.(1345-1347)Gga>Tga	p.G449*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	449					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)				GGTGTCTCTCCAGTGTGAATT	0.383																																						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.(1345-1347)Gga>Tga		zinc finger protein 208							82.0	89.0	87.0					19																	22156491		2144	4261	6405	SO:0001587	stop_gained	7757							g.chr19:22156491C>A	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.1345G>T	19.37:g.22156491C>A	ENSP00000380315:p.Gly449*					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.G449*	NM_007153.3	NP_009084.2					4	1493	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Nonsense_Mutation	SNP	ENST00000397126.4	37	c.1345G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999551	0.74818	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	2.83	2.83	0.33086	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	6.9568	0.24576	0.0:0.8597:0.0:0.1403	.	.	.	.	X	449	.	ENSP00000380315:G449X	G	-	1	0	ZNF208	21948331	0.049000	0.20398	0.150000	0.22450	0.004000	0.04260	2.229000	0.42990	1.150000	0.42419	0.306000	0.20318	GGA		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	71	1	0	0.0293803	1	0.0297828	6	71				
RGS9	8787	broad.mit.edu	37	17	63204085	63204085	+	Silent	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr17:63204085C>T	ENST00000262406.9	+	16	1316	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	RGS9_ENST00000449996.3_Silent_p.L414L|RGS9_ENST00000443584.3_Silent_p.L414L	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	417				L -> Q (in Ref. 7; AAC25430). {ECO:0000305}.	dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TAAGGACATGCTGGCCAAAGC	0.403																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1240-1242)Ctg>Ttg		regulator of G-protein signaling 9							107.0	94.0	98.0					17																	63204085		1859	4091	5950	SO:0001819	synonymous_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63204085C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1249C>T	17.37:g.63204085C>T						RGS9_ENST00000262406.9_Silent_p.L417L|RGS9_ENST00000443584.3_Silent_p.L414L	p.L414L	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			16	1312	+			417					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	c.1240C>T	CCDS42373.1																																																																																				0.403	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		3	52	0	0	0	1	0	3	52				
UBXN7	26043	broad.mit.edu	37	3	196089432	196089432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:196089432C>A	ENST00000296328.4	-	9	1035	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	UBXN7_ENST00000428095.1_Nonsense_Mutation_p.E159*|UBXN7_ENST00000535858.1_Nonsense_Mutation_p.E173*	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	321						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GAAAAAAGTTCAGATTCAGAT	0.443																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(961-963)Gaa>Taa		UBX domain protein 7							112.0	106.0	108.0					3																	196089432		1845	4100	5945	SO:0001587	stop_gained	26043						protein binding	g.chr3:196089432C>A	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.961G>T	3.37:g.196089432C>A	ENSP00000296328:p.Glu321*					UBXN7_ENST00000535858.1_Nonsense_Mutation_p.E173*|UBXN7_ENST00000428095.1_Nonsense_Mutation_p.E159*	p.E321*	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN			9	1035	-			321					D3DXB3|Q6ZP77|Q86X20|Q8N327	Nonsense_Mutation	SNP	ENST00000296328.4	37	c.961G>T	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	C	39	7.548623	0.98352	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-17.9037	20.2723	0.98479	0.0:1.0:0.0:0.0	.	.	.	.	X	321;159;173	.	ENSP00000296328:E321X	E	-	1	0	UBXN7	197573829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.372000	0.79612	2.793000	0.96121	0.563000	0.77884	GAA		0.443	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		49	84	1	0	9.22156e-22	1	1.03393e-21	49	84				
OR2T10	127069	broad.mit.edu	37	1	248756250	248756250	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:248756250A>G	ENST00000330500.2	-	1	850	c.820T>C	c.(820-822)Tca>Cca	p.S274P	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	274						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)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			AAAAAGGATGACATCATATCT	0.428																																						ENST00000330500.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(820-822)Tca>Cca		olfactory receptor, family 2, subfamily T, member 10							56.0	63.0	61.0					1																	248756250		2043	4233	6276	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756250A>G		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.820T>C	1.37:g.248756250A>G	ENSP00000329210:p.Ser274Pro						p.S274P	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	850	-	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)		274					B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.820T>C	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	0.307	-0.970301	0.02232	.	.	ENSG00000184022	ENST00000330500	T	0.37411	1.2	2.35	0.359	0.16088	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.25121	0.0610	L	0.33245	0.995	0.09310	N	1	B	0.15719	0.014	B	0.15052	0.012	T	0.21965	-1.0230	9	0.87932	D	0	.	5.7832	0.18318	0.1946:0.6801:0.0:0.1253	.	274	Q8NGZ9	O2T10_HUMAN	P	274	ENSP00000329210:S274P	ENSP00000329210:S274P	S	-	1	0	OR2T10	246822873	0.000000	0.05858	0.005000	0.12908	0.000000	0.00434	-3.373000	0.00493	-0.636000	0.05524	-3.377000	0.00040	TCA		0.428	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		20	41	0	0	0	1	0	20	41				
PCDH17	27253	broad.mit.edu	37	13	58299039	58299039	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr13:58299039G>A	ENST00000377918.3	+	4	3117	c.3091G>A	c.(3091-3093)Gag>Aag	p.E1031K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1031					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCTCCTCCAAGAGGTCCCCTC	0.502																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3091-3093)Gag>Aag		protocadherin 17							88.0	89.0	89.0					13																	58299039		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299039G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3091G>A	13.37:g.58299039G>A	ENSP00000367151:p.Glu1031Lys						p.E1031K	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3117	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1031					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3091G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786408	0.70337	.	.	ENSG00000118946	ENST00000377918	T	0.51574	0.7	6.07	6.07	0.98685	.	0.051269	0.85682	D	0.000000	T	0.43809	0.1264	L	0.43152	1.355	0.58432	D	0.999999	B	0.31459	0.324	B	0.28784	0.094	T	0.17715	-1.0360	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1031	O14917	PCD17_HUMAN	K	1031	ENSP00000367151:E1031K	.	E	+	1	0	PCDH17	57197040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAG		0.502	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	87	0	0	0	1	0	4	87				
C4orf51	646603	broad.mit.edu	37	4	146601567	146601567	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:146601567A>T	ENST00000438731.1	+	1	212	c.212A>T	c.(211-213)cAg>cTg	p.Q71L		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	71										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AGAGCAGGACAGCATGAGCCT	0.398																																						ENST00000438731.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						c.(211-213)cAg>cTg		chromosome 4 open reading frame 51							81.0	77.0	78.0					4																	146601567		1910	4129	6039	SO:0001583	missense	646603							g.chr4:146601567A>T		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.212A>T	4.37:g.146601567A>T	ENSP00000391404:p.Gln71Leu						p.Q71L	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN			1	212	+			71						Missense_Mutation	SNP	ENST00000438731.1	37	c.212A>T	CCDS47140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.310|9.310	1.055320|1.055320	0.19907|0.19907	.|.	.|.	ENSG00000237136|ENSG00000237136	ENST00000438731|ENST00000511965	.|.	.|.	.|.	5.53|5.53	-1.69|-1.69	0.08186|0.08186	.|.	.|.	.|.	.|.	.|.	T|T	0.19005|0.19005	0.0456|0.0456	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B|.	0.16396|.	0.017|.	B|.	0.12156|.	0.007|.	T|T	0.24657|0.24657	-1.0154|-1.0154	8|5	0.87932|.	D|.	0|.	.|.	0.0666|0.0666	0.00018|0.00018	0.3293:0.1764:0.1849:0.3095|0.3293:0.1764:0.1849:0.3095	.|.	71|.	C9J302|.	CD051_HUMAN|.	L|C	71|31	.|.	ENSP00000391404:Q71L|.	Q|S	+|+	2|1	0|0	C4orf51|C4orf51	146821017|146821017	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.549000|0.549000	0.35272|0.35272	0.020000|0.020000	0.13466|0.13466	-0.192000|-0.192000	0.10432|0.10432	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.398	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		6	33	0	0	0	1	0	6	33				
COL7A1	1294	broad.mit.edu	37	3	48623584	48623584	+	Missense_Mutation	SNP	C	C	T	rs150513888	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:48623584C>T	ENST00000328333.8	-	27	3753	c.3646G>A	c.(3646-3648)Gtg>Atg	p.V1216M	COL7A1_ENST00000454817.1_Missense_Mutation_p.V1216M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1216	Nonhelical region (NC1).|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCATCATCCACGGCGAAGAAG	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		16832	0.0		0.0	False		,,,				2504	0.002					ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(3646-3648)Gtg>Atg		collagen, type VII, alpha 1		C	MET/VAL	0,4406		0,0,2203	85.0	94.0	91.0		3646	3.0	0.5	3	dbSNP_134	91	1,8599		0,1,4299	no	missense	COL7A1	NM_000094.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1216/2945	48623584	1,13005	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48623584C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3646G>A	3.37:g.48623584C>T	ENSP00000332371:p.Val1216Met					COL7A1_ENST00000454817.1_Missense_Mutation_p.V1216M	p.V1216M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	27	3753	-			1216			Nonhelical region (NC1).|VWFA 2.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.3646G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	6.566	0.472729	0.12461	0.0	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.80566	-1.39;-1.39	4.76	2.96	0.34315	von Willebrand factor, type A (2);	0.184208	0.25932	N	0.027379	T	0.66356	0.2781	N	0.19112	0.55	0.09310	N	0.999999	B	0.14438	0.01	B	0.15052	0.012	T	0.58651	-0.7599	10	0.54805	T	0.06	.	9.7356	0.40386	0.0:0.8382:0.0:0.1618	.	1216	Q02388	CO7A1_HUMAN	M	1216	ENSP00000332371:V1216M;ENSP00000412569:V1216M	ENSP00000332371:V1216M	V	-	1	0	COL7A1	48598588	0.000000	0.05858	0.494000	0.27515	0.726000	0.41606	-1.699000	0.01906	0.724000	0.32296	-0.254000	0.11334	GTG		0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		46	103	0	0	0	1	0	46	103				
MYH2	4620	broad.mit.edu	37	17	10435046	10435046	+	Silent	SNP	G	G	A	rs142129307	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr17:10435046G>A	ENST00000245503.5	-	22	2985	c.2601C>T	c.(2599-2601)gaC>gaT	p.D867D	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.D867D|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	867					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.D867D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGCAAGTTCGTCTTTAATTT	0.428													g|||	2	0.000399361	0.0	0.0	5008	,	,		22173	0.002		0.0	False		,,,				2504	0.0					ENST00000245503.5																			1	Substitution - coding silent(1)	p.D867D(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2599-2601)gaC>gaT		myosin, heavy chain 2, skeletal muscle, adult		G	,	1,4405	2.1+/-5.4	0,1,2202	133.0	130.0	131.0		2601,2601	-9.4	0.0	17	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	867/1942,867/1942	10435046	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10435046G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2601C>T	17.37:g.10435046G>A						MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.D867D	p.D867D	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			22	2985	-			867					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.2601C>T	CCDS11156.1																																																																																				0.428	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		47	76	0	0	0	1	0	47	76				
NRG2	9542	broad.mit.edu	37	5	139251346	139251346	+	Missense_Mutation	SNP	C	C	T	rs188700714	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr5:139251346C>T	ENST00000361474.1	-	4	1296	c.1072G>A	c.(1072-1074)Gtc>Atc	p.V358I	NRG2_ENST00000340391.3_Missense_Mutation_p.V155I|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000289422.7_Missense_Mutation_p.V358I|NRG2_ENST00000358522.3_Missense_Mutation_p.V358I|NRG2_ENST00000545385.1_Missense_Mutation_p.V358I|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000394770.1_Missense_Mutation_p.V358I|NRG2_ENST00000289409.4_Missense_Mutation_p.V358I	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	358	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.V358I(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTAGCAGACGCCTCCATTG	0.572													C|||	15	0.00299521	0.0	0.0	5008	,	,		20272	0.0149		0.0	False		,,,				2504	0.0					ENST00000394770.1																			1	Substitution - Missense(1)	p.V358I(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1072-1074)Gtc>Atc		neuregulin 2							212.0	159.0	177.0					5																	139251346		2203	4300	6503	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139251346C>T		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1072G>A	5.37:g.139251346C>T	ENSP00000354910:p.Val358Ile					NRG2_ENST00000358522.3_Missense_Mutation_p.V358I|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000361474.1_Missense_Mutation_p.V358I|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000545385.1_Missense_Mutation_p.V358I|NRG2_ENST00000340391.3_Missense_Mutation_p.V155I|NRG2_ENST00000289409.4_Missense_Mutation_p.V358I|NRG2_ENST00000289422.7_Missense_Mutation_p.V358I	p.V358I			O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1296	-			358			EGF-like.			Missense_Mutation	SNP	ENST00000361474.1	37	c.1072G>A	CCDS4217.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	19.03	3.747463	0.69533	.	.	ENSG00000158458	ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000340391;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.81	4.81	0.61882	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.268821	0.30168	N	0.010256	T	0.35335	0.0928	N	0.25957	0.775	0.43421	D	0.995575	P;D;P;D	0.71674	0.92;0.998;0.608;0.997	B;P;B;P	0.53760	0.401;0.546;0.129;0.734	T	0.32587	-0.9901	10	0.49607	T	0.09	-21.9796	15.6633	0.77206	0.0:1.0:0.0:0.0	.	358;358;358;358	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	I	358;358;358;358;358;155;358;358;266;358	ENSP00000289422:V358I;ENSP00000354910:V358I;ENSP00000438753:V358I;ENSP00000378251:V358I;ENSP00000342660:V155I;ENSP00000289409:V358I;ENSP00000351323:V358I;ENSP00000367483:V358I	ENSP00000289409:V358I	V	-	1	0	NRG2	139231530	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.162000	0.64942	2.218000	0.71995	0.462000	0.41574	GTC		0.572	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		4	93	0	0	0	1	0	4	93				
CACNA1E	777	broad.mit.edu	37	1	181680167	181680167	+	Missense_Mutation	SNP	G	G	A	rs575157426		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:181680167G>A	ENST00000367573.2	+	8	1133	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R329H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R378H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R378H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R329H|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R378H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	378	Binding to the beta subunit. {ECO:0000250}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGATTGAGCGTGAGCTGAAT	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20107	0.0		0.0	False		,,,				2504	0.0					ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1132-1134)cGt>cAt		calcium channel, voltage-dependent, R type, alpha 1E subunit							66.0	72.0	70.0					1																	181680167		1986	4158	6144	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680167G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1133G>A	1.37:g.181680167G>A	ENSP00000356545:p.Arg378His					CACNA1E_ENST00000360108.3_Missense_Mutation_p.R378H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R329H|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R329H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R378H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R378H	p.R378H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			8	1298	+			378			Binding to the beta subunit (By similarity).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1133G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870022	0.91587	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31	5.29	4.37	0.52481	.	0.109385	0.56097	D	0.000032	D	0.94640	0.8272	M	0.70595	2.14	0.80722	D	1	D;D	0.56287	0.975;0.975	P;P	0.52710	0.707;0.59	D	0.94675	0.7860	10	0.66056	D	0.02	.	14.8817	0.70537	0.0:0.0:0.8551:0.1449	.	378;378	Q15878-2;Q15878-3	.;.	H	378;378;378;329;329;378;378	ENSP00000432038:R378H;ENSP00000356542:R378H;ENSP00000434814:R378H;ENSP00000350183:R329H;ENSP00000351101:R329H;ENSP00000353222:R378H;ENSP00000356545:R378H	ENSP00000350183:R329H	R	+	2	0	CACNA1E	179946790	1.000000	0.71417	0.806000	0.32338	0.911000	0.54048	9.717000	0.98755	1.209000	0.43321	0.655000	0.94253	CGT		0.577	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		6	74	0	0	0	1	0	6	74				
TTN	7273	broad.mit.edu	37	2	179418502	179418502	+	Missense_Mutation	SNP	C	C	T	rs201592005		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr2:179418502C>T	ENST00000591111.1	-	284	84531	c.84307G>A	c.(84307-84309)Gca>Aca	p.A28103T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A29744T|TTN_ENST00000460472.2_Missense_Mutation_p.A20679T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A27176T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20804T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20871T			Q8WZ42	TITIN_HUMAN	titin	28103	Fibronectin type-III 105. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGAATCTGCGATTCTTATC	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(89230-89232)Gca>Aca		titin		T	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,3985		0,1,1992	77.0	75.0	76.0		62611,62410,81526,62035	1.8	0.7	2		76	1,8343		0,1,4171	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	58,58,58,58	0,2,6163	TT,TC,CC		0.012,0.0251,0.0162	benign,benign,benign,benign	20871/27119,20804/27052,27176/33424,20679/26927	179418502	2,12328	1993	4172	6165	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418502C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84307G>A	2.37:g.179418502C>T	ENSP00000465570:p.Ala28103Thr					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A28103T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20871T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20679T|TTN_ENST00000359218.5_Missense_Mutation_p.A20804T|TTN_ENST00000342992.6_Missense_Mutation_p.A27176T|TTN-AS1_ENST00000419746.1_RNA	p.A29744T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		334	89454	-			28103			Fibronectin type-III 116.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.89230G>A		.	.	.	.	.	.	.	.	.	.	c	12.97	2.097702	0.37048	2.51E-4	1.2E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.61	1.82	0.25136	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22360	0.0539	N	0.00960	-1.095	0.22342	N	0.999189	B;B;B;B	0.11235	0.004;0.004;0.004;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.22661	-1.0210	9	0.87932	D	0	.	7.2975	0.26401	0.1197:0.6886:0.0:0.1917	.	20679;20804;20871;28103	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	27176;20679;20871;20804;20676	ENSP00000343764:A27176T;ENSP00000434586:A20679T;ENSP00000340554:A20871T;ENSP00000352154:A20804T	ENSP00000340554:A20871T	A	-	1	0	TTN	179126748	0.245000	0.23899	0.719000	0.30619	0.783000	0.44284	0.711000	0.25764	0.118000	0.18165	-0.119000	0.15052	GCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	33	0	0	0	1	0	15	33				
AGA	175	broad.mit.edu	37	4	178352895	178352895	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:178352895A>T	ENST00000264595.2	-	9	1135	c.1008T>A	c.(1006-1008)aaT>aaA	p.N336K	AGA_ENST00000506853.1_5'Flank	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	336					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGTTGGCTGATTTTTTTCGG	0.368																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(1006-1008)aaT>aaA		aspartylglucosaminidase							115.0	111.0	112.0					4																	178352895		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178352895A>T	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.1008T>A	4.37:g.178352895A>T	ENSP00000264595:p.Asn336Lys						p.N336K	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	9	1135	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	336					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.1008T>A	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	A	4.307	0.056201	0.08291	.	.	ENSG00000038002	ENST00000264595	D	0.87029	-2.2	5.87	-2.17	0.07059	.	0.584736	0.21708	N	0.070315	T	0.79155	0.4398	M	0.62723	1.935	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.61143	-0.7122	10	0.14252	T	0.57	-28.1707	6.2253	0.20703	0.4069:0.2464:0.3467:0.0	.	336	P20933	ASPG_HUMAN	K	336	ENSP00000264595:N336K	ENSP00000264595:N336K	N	-	3	2	AGA	178589889	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.451000	0.21779	-0.252000	0.09528	-0.912000	0.02778	AAT		0.368	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		3	52	0	0	0	1	0	3	52				
XPO7	23039	broad.mit.edu	37	8	21842352	21842352	+	Splice_Site	SNP	T	T	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr8:21842352T>A	ENST00000252512.9	+	12	1571		c.e12+2		XPO7_ENST00000434536.1_Splice_Site|XPO7_ENST00000433566.4_Splice_Site	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7						mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGCAGGAGGGTGAGTGTGCAG	0.567																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e12+2		exportin 7							65.0	69.0	67.0					8																	21842352		2152	4267	6419	SO:0001630	splice_region_variant	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21842352T>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1471+2T>A	8.37:g.21842352T>A						XPO7_ENST00000252512.9_Splice_Site|XPO7_ENST00000433566.4_Splice_Site				Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	12	1600	+								O94846|Q6PJK9|Q8NEK7	Splice_Site	SNP	ENST00000252512.9	37		CCDS47818.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684672	0.88639	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1078	0.72334	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	XPO7	21898298	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.993000	0.88291	2.052000	0.61016	0.477000	0.44152	.		0.567	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024	Intron	18	21	0	0	0	1	0	18	21				
TATDN1	83940	broad.mit.edu	37	8	125498222	125498222	+	IGR	SNP	C	C	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr8:125498222C>A	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.T111K|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCTACAACACGTCAGCTTTT	0.428																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(331-333)aCg>aAg		ring finger protein 139							176.0	151.0	159.0					8																	125498222		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498222C>A	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498222C>A							p.T111K	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	704	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		111					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.332C>A	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309401	0.23821	.	.	ENSG00000170881	ENST00000303545	T	0.21932	1.98	5.06	5.06	0.68205	.	0.424638	0.26887	N	0.021985	T	0.14098	0.0341	N	0.19112	0.55	0.37377	D	0.911886	B	0.13594	0.008	B	0.11329	0.006	T	0.07424	-1.0773	10	0.05721	T	0.95	-3.044	18.822	0.92100	0.0:1.0:0.0:0.0	.	111	Q8WU17	RN139_HUMAN	K	111	ENSP00000304051:T111K	ENSP00000304051:T111K	T	+	2	0	RNF139	125567403	0.999000	0.42202	0.998000	0.56505	0.983000	0.72400	4.288000	0.59007	2.501000	0.84356	0.650000	0.86243	ACG		0.428	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		7	99	1	0	8.12818e-05	1	8.47163e-05	7	99				
PLCL2	23228	broad.mit.edu	37	3	17051267	17051267	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:17051267G>C	ENST00000418129.2	+	2	516	c.51G>C	c.(49-51)atG>atC	p.M17I	PLCL2_ENST00000396755.2_Missense_Mutation_p.M17I|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000432376.1_Missense_Mutation_p.M17I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	143	Gly-rich.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTAATTCAATGGTTGAGGGTT	0.423																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(49-51)atG>atC		phospholipase C-like 2							68.0	68.0	68.0					3																	17051267		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17051267G>C	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.51G>C	3.37:g.17051267G>C	ENSP00000409637:p.Met17Ile					PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.M17I|PLCL2_ENST00000432376.1_Missense_Mutation_p.M17I	p.M17I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	516	+			143			Gly-rich.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.51G>C	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762323	0.69763	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.62639	0.01;0.01;0.01	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	.	.	.	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.971;0.991	T	0.83166	-0.0096	9	0.72032	D	0.01	.	19.4204	0.94719	0.0:0.0:1.0:0.0	.	143;17	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	I	17;144;17;17	ENSP00000409637:M17I;ENSP00000379979:M17I;ENSP00000412836:M17I	ENSP00000285094:M144I	M	+	3	0	PLCL2	17026271	1.000000	0.71417	0.974000	0.42286	0.963000	0.63663	9.869000	0.99810	2.599000	0.87857	0.491000	0.48974	ATG		0.423	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			24	36	0	0	0	1	0	24	36				
VCP	7415	broad.mit.edu	37	9	35062992	35062992	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:35062992A>G	ENST00000358901.6	-	7	1689	c.794T>C	c.(793-795)tTc>tCc	p.F265S		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	265					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAAGAAGAAGAAGGCTCCAGT	0.463																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(793-795)tTc>tCc		valosin containing protein							207.0	203.0	205.0					9																	35062992		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35062992A>G	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.794T>C	9.37:g.35062992A>G	ENSP00000351777:p.Phe265Ser						p.F265S	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1689	-			265					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.794T>C	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456978	0.84317	.	.	ENSG00000165280	ENST00000358901	D	0.94232	-3.38	5.9	5.9	0.94986	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.89403	0.6705	N	0.00621	-1.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93626	0.6952	10	0.49607	T	0.09	-20.8728	16.3317	0.83023	1.0:0.0:0.0:0.0	.	265	P55072	TERA_HUMAN	S	265	ENSP00000351777:F265S	ENSP00000351777:F265S	F	-	2	0	VCP	35052992	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.497000	0.81536	2.264000	0.75181	0.533000	0.62120	TTC		0.463	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		29	86	0	0	0	1	0	29	86				
MTG1	92170	broad.mit.edu	37	10	135215702	135215702	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:135215702C>T	ENST00000317502.6	+	8	673	c.623C>T	c.(622-624)gCt>gTt	p.A208V	RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.A213V|MTG1_ENST00000477902.2_Missense_Mutation_p.A167V	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	208	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GGCGTGCTGGCTCCTCGGATT	0.687																																						ENST00000468317.2																			0											c.(637-639)gCt>gTt									92.0	94.0	93.0					10																	135215702		2203	4300	6503	SO:0001583	missense	0							g.chr10:135215702C>T		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.623C>T	10.37:g.135215702C>T	ENSP00000323047:p.Ala208Val					MTG1_ENST00000477902.2_Missense_Mutation_p.A167V|MTG1_ENST00000317502.6_Missense_Mutation_p.A208V	p.A213V							9	893	+								Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.638C>T	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.478404	0.44044	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508	T;T;T	0.17691	2.26;2.26;2.54	5.59	3.67	0.42095	GTP-binding domain, HSR1-related (1);	0.172756	0.40554	N	0.001078	T	0.12178	0.0296	N	0.16862	0.45	0.31065	N	0.713673	B;P	0.37276	0.024;0.589	B;B	0.39771	0.037;0.309	T	0.06734	-1.0810	10	0.29301	T	0.29	-1.0E-4	12.6206	0.56601	0.3019:0.6981:0.0:0.0	.	157;208	E7EVK2;Q9BT17	.;MTG1_HUMAN	V	213;208;157	ENSP00000436767:A213V;ENSP00000323047:A208V;ENSP00000393480:A157V	ENSP00000323047:A208V	A	+	2	0	AL360181.1;MTG1	135065692	1.000000	0.71417	0.971000	0.41717	0.665000	0.39181	3.596000	0.54024	0.668000	0.31126	0.446000	0.29264	GCT		0.687	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		60	90	0	0	0	1	0	60	90				
XPO7	23039	broad.mit.edu	37	8	21833903	21833903	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr8:21833903C>T	ENST00000252512.9	+	7	734	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	XPO7_ENST00000434536.1_Nonsense_Mutation_p.Q221*|XPO7_ENST00000433566.4_Nonsense_Mutation_p.Q213*|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	212					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGATGAAAGTCAGCATGGCTT	0.458																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(661-663)Cag>Tag		exportin 7							208.0	204.0	205.0					8																	21833903		1952	4179	6131	SO:0001587	stop_gained	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21833903C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.634C>T	8.37:g.21833903C>T	ENSP00000252512:p.Gln212*					XPO7_ENST00000252512.9_Nonsense_Mutation_p.Q212*|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Nonsense_Mutation_p.Q213*	p.Q221*			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	7	763	+			212					O94846|Q6PJK9|Q8NEK7	Nonsense_Mutation	SNP	ENST00000252512.9	37	c.661C>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	36	5.946529	0.97134	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-12.1013	19.6226	0.95665	0.0:1.0:0.0:0.0	.	.	.	.	X	221;212;213	.	ENSP00000252512:Q212X	Q	+	1	0	XPO7	21889849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.796000	0.85898	2.741000	0.93983	0.655000	0.94253	CAG		0.458	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		5	106	0	0	0	1	0	5	106				
KLHL18	23276	broad.mit.edu	37	3	47364056	47364056	+	Splice_Site	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:47364056A>G	ENST00000232766.5	+	3	280		c.e3-1		KLHL18_ENST00000455924.2_Splice_Site	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18											endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCTTTCCTCTAGTGCCCTGGA	0.542																																						ENST00000232766.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21						c.e3-1		kelch-like family member 18							87.0	71.0	77.0					3																	47364056		2203	4300	6503	SO:0001630	splice_region_variant	23276							g.chr3:47364056A>G	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.261-1A>G	3.37:g.47364056A>G						KLHL18_ENST00000455924.2_Splice_Site		NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	3	280	+		Acute lymphoblastic leukemia(5;0.164)						A8K612|Q7Z3E8|Q8N125	Splice_Site	SNP	ENST00000232766.5	37		CCDS33749.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653159	0.88056	.	.	ENSG00000114648	ENST00000232766;ENST00000437353	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5603	0.68130	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL18	47339060	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.017000	0.93651	2.229000	0.72834	0.533000	0.62120	.		0.542	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010	Intron	20	22	0	0	0	1	0	20	22				
ACTL7B	10880	broad.mit.edu	37	9	111617958	111617958	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:111617958C>T	ENST00000374667.3	-	1	1281	c.253G>A	c.(253-255)Gag>Aag	p.E85K		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	85						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCGGCCGCCTCGGGGCAGCGT	0.652																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(253-255)Gag>Aag		actin-like 7B							73.0	75.0	74.0					9																	111617958		2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617958C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.253G>A	9.37:g.111617958C>T	ENSP00000363799:p.Glu85Lys						p.E85K	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1281	-			85					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.253G>A	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	9.898	1.206026	0.22205	.	.	ENSG00000148156	ENST00000374667	D	0.97066	-4.23	4.27	3.35	0.38373	.	1.816400	0.03688	U	0.246632	D	0.93439	0.7907	N	0.19112	0.55	0.18873	N	0.999982	P	0.35328	0.495	B	0.29598	0.104	D	0.87186	0.2231	10	0.87932	D	0	.	10.6347	0.45558	0.0:0.6202:0.3798:0.0	.	85	Q9Y614	ACL7B_HUMAN	K	85	ENSP00000363799:E85K	ENSP00000363799:E85K	E	-	1	0	ACTL7B	110657779	0.011000	0.17503	0.014000	0.15608	0.406000	0.30931	0.404000	0.20999	0.977000	0.38444	0.655000	0.94253	GAG		0.652	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		51	77	0	0	0	1	0	51	77				
PRAMEF1	65121	broad.mit.edu	37	1	12854346	12854346	+	Silent	SNP	G	G	A	rs577183721	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:12854346G>A	ENST00000332296.7	+	3	673	c.570G>A	c.(568-570)acG>acA	p.T190T	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	190					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTATCTAACGCCGATTAAAT	0.408													g|||	3	0.000599042	0.0	0.0	5008	,	,		28156	0.0		0.0	False		,,,				2504	0.0031					ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(568-570)acG>acA		PRAME family member 1							197.0	211.0	206.0					1																	12854346		2203	4300	6503	SO:0001819	synonymous_variant	65121							g.chr1:12854346G>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.570G>A	1.37:g.12854346G>A							p.T190T	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	673	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	190					Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.570G>A	CCDS148.1																																																																																				0.408	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		9	576	0	0	0	1	0	9	576				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|AGAP10_ENST00000355232.3_Splice_Site_p.H157R|RP11-144G6.12_ENST00000605970.1_RNA			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	4	46	0	0	0	1	0	4	46				
RBMXL2	27288	broad.mit.edu	37	11	7111257	7111257	+	Silent	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr11:7111257C>T	ENST00000306904.5	+	1	1093	c.906C>T	c.(904-906)taC>taT	p.Y302Y		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	302	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCCATCTTACGGAGGAGGAG	0.662																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(904-906)taC>taT		RNA binding motif protein, X-linked-like 2							17.0	20.0	19.0					11																	7111257		2195	4290	6485	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111257C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.906C>T	11.37:g.7111257C>T							p.Y302Y	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1093	+			302			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.906C>T	CCDS7777.1																																																																																				0.662	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		4	20	0	0	0	1	0	4	20				
WDR17	116966	broad.mit.edu	37	4	177032828	177032828	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:177032828G>A	ENST00000280190.4	+	3	325	c.169G>A	c.(169-171)Gcg>Acg	p.A57T	WDR17_ENST00000393643.2_Missense_Mutation_p.A33T|WDR17_ENST00000507824.2_Missense_Mutation_p.A57T|WDR17_ENST00000508596.1_Missense_Mutation_p.A33T			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	57										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGCATATTGTGCGACCCTGGC	0.363																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(97-99)Gcg>Acg		WD repeat domain 17							116.0	106.0	110.0					4																	177032828		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177032828G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.169G>A	4.37:g.177032828G>A	ENSP00000280190:p.Ala57Thr					WDR17_ENST00000280190.4_Missense_Mutation_p.A57T|WDR17_ENST00000507824.2_Missense_Mutation_p.A57T|WDR17_ENST00000508596.1_Missense_Mutation_p.A33T	p.A33T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	2	349	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	57					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.97G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895306	0.72639	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000296524;ENST00000507824	T;T;T	0.64438	-0.06;-0.03;-0.1	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.81914	0.995;0.948;0.995	T	0.72571	-0.4253	10	0.52906	T	0.07	-16.3469	19.1629	0.93541	0.0:0.0:1.0:0.0	.	33;57;57	E7EQX0;E7ESC9;Q8IZU2	.;.;WDR17_HUMAN	T	33;33;57;33;57	ENSP00000422763:A33T;ENSP00000377258:A33T;ENSP00000280190:A57T	ENSP00000280190:A57T	A	+	1	0	WDR17	177269822	1.000000	0.71417	0.888000	0.34837	0.084000	0.17831	7.302000	0.78861	2.513000	0.84729	0.467000	0.42956	GCG		0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			23	44	0	0	0	1	0	23	44				
SPTA1	6708	broad.mit.edu	37	1	158639228	158639228	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:158639228C>G	ENST00000368147.4	-	14	1983	c.1803G>C	c.(1801-1803)aaG>aaC	p.K601N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	601					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAACTTTTTCTTCTTGTTGA	0.423																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1801-1803)aaG>aaC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							283.0	264.0	270.0					1																	158639228		1913	4130	6043	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639228C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1803G>C	1.37:g.158639228C>G	ENSP00000357129:p.Lys601Asn					SPTA1_ENST00000368147.3_Missense_Mutation_p.K601N	p.K601N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			14	1983	-	all_hematologic(112;0.0378)		601					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1803G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699627	0.68501	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56941	0.43;0.43	4.72	0.605	0.17553	.	0.000000	0.33477	N	0.004866	T	0.65270	0.2675	M	0.91920	3.255	0.45541	D	0.998497	D	0.89917	1.0	D	0.87578	0.998	T	0.67914	-0.5547	10	0.66056	D	0.02	.	8.131	0.31027	0.0:0.6397:0.0:0.3603	.	601	P02549	SPTA1_HUMAN	N	601	ENSP00000357130:K601N;ENSP00000357129:K601N	ENSP00000357129:K601N	K	-	3	2	SPTA1	156905852	0.997000	0.39634	0.998000	0.56505	0.953000	0.61014	0.482000	0.22276	0.022000	0.15160	0.655000	0.94253	AAG		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		79	140	0	0	0	1	0	79	140				
ATF7	11016	broad.mit.edu	37	12	53927005	53927005	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr12:53927005G>C	ENST00000548446.2	-	7	744	c.632C>G	c.(631-633)gCt>gGt	p.A211G	ATF7_ENST00000415113.1_Missense_Mutation_p.A179G|ATF7_ENST00000456903.4_Missense_Mutation_p.A200G|ATF7_ENST00000328463.7_Missense_Mutation_p.A211G|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.A200G|ATF7_ENST00000420353.2_Missense_Mutation_p.A200G			P17544	ATF7_HUMAN	activating transcription factor 7	211	Transactivation domain.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	CTGTCCATTAGCAAGATGCAT	0.512																																						ENST00000420353.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(598-600)gCt>gGt		activating transcription factor 7							73.0	73.0	73.0					12																	53927005		1987	4159	6146	SO:0001583	missense	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53927005G>C	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.632C>G	12.37:g.53927005G>C	ENSP00000449938:p.Ala211Gly					ATF7_ENST00000456903.4_Missense_Mutation_p.A200G|ATF7_ENST00000328463.7_Missense_Mutation_p.A211G|ATF7_ENST00000415113.1_Missense_Mutation_p.A179G|ATF7_ENST00000548446.2_Missense_Mutation_p.A211G|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.A200G	p.A200G	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN			7	748	-			211			Transactivation domain.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37	c.599C>G		.	.	.	.	.	.	.	.	.	.	G	11.42	1.632451	0.29068	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.45276	0.91;0.91;0.9;0.91;0.91	4.87	4.87	0.63330	.	0.162448	0.56097	D	0.000035	T	0.19765	0.0475	N	0.08118	0	0.32385	N	0.554004	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.0;0.003	T	0.15407	-1.0438	10	0.21014	T	0.42	-18.2065	7.1224	0.25453	0.0904:0.1752:0.7344:0.0	.	179;200;211	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	G	211;211;179;200;200	ENSP00000449938:A211G;ENSP00000329212:A211G;ENSP00000404880:A179G;ENSP00000399465:A200G;ENSP00000387406:A200G	ENSP00000329212:A211G	A	-	2	0	ATF7	52213272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.510000	0.67018	2.698000	0.92095	0.561000	0.74099	GCT		0.512	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		20	31	0	0	0	1	0	20	31				
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																						ENST00000565869.1																			0																																																			0							g.chr15:78211648A>G																													15.37:g.78211648A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	59	0	0	0	1	0	3	59				
LINC00264	645528	broad.mit.edu	37	10	26880327	26880327	+	lincRNA	SNP	T	T	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:26880327T>G	ENST00000412114.1	+	0	562					NR_026793.1				long intergenic non-protein coding RNA 264																		CCCAAACACATGCTGAAACAT	0.502																																						ENST00000412114.1																			0																																																			0							g.chr10:26880327T>G			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880327T>G								NR_026793.1						0	562	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.502	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		12	20	0	0	0	1	0	12	20				
MEX3B	84206	broad.mit.edu	37	15	82336870	82336870	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr15:82336870G>A	ENST00000329713.4	-	2	776	c.341C>T	c.(340-342)aCg>aTg	p.T114M	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	114	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CTTCCTGCCCGTCACAACAAA	0.572																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(340-342)aCg>aTg		mex-3 RNA binding family member B							53.0	55.0	54.0					15																	82336870		2203	4300	6503	SO:0001583	missense	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336870G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.341C>T	15.37:g.82336870G>A	ENSP00000329918:p.Thr114Met					MEX3B_ENST00000558133.1_3'UTR	p.T114M	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	776	-			114			KH 1.		Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	37	c.341C>T	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467051	0.84533	.	.	ENSG00000183496	ENST00000329713	T	0.33438	1.41	4.41	4.41	0.53225	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.127383	0.52532	D	0.000074	T	0.56156	0.1966	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62455	-0.6851	10	0.87932	D	0	-19.9807	15.9129	0.79485	0.0:0.0:1.0:0.0	.	114	Q6ZN04	MEX3B_HUMAN	M	114	ENSP00000329918:T114M	ENSP00000329918:T114M	T	-	2	0	MEX3B	80123925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.872000	0.92352	2.291000	0.77112	0.491000	0.48974	ACG		0.572	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		3	43	0	0	0	1	0	3	43				
AADACL4	343066	broad.mit.edu	37	1	12711190	12711190	+	Missense_Mutation	SNP	C	C	T	rs375635678		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:12711190C>T	ENST00000376221.1	+	2	217	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	73						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CAAATTTATTCGTTTTTTACA	0.458																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(217-219)Cgt>Tgt		arylacetamide deacetylase-like 4		C	CYS/ARG	0,4406		0,0,2203	95.0	94.0	95.0		217	0.7	0.0	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	AADACL4	NM_001013630.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	73/408	12711190	1,13005	2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12711190C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.217C>T	1.37:g.12711190C>T	ENSP00000365395:p.Arg73Cys						p.R73C	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	2	217	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	73						Missense_Mutation	SNP	ENST00000376221.1	37	c.217C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	9.082	0.999634	0.19121	0.0	1.16E-4	ENSG00000204518	ENST00000376221	T	0.04970	3.52	4.82	0.712	0.18167	.	0.442912	0.22014	N	0.065833	T	0.03608	0.0103	N	0.17474	0.49	0.09310	N	1	B	0.28636	0.218	B	0.20955	0.032	T	0.39860	-0.9593	10	0.42905	T	0.14	-0.0177	8.3611	0.32359	0.0:0.6496:0.0:0.3504	.	73	Q5VUY2	ADCL4_HUMAN	C	73	ENSP00000365395:R73C	ENSP00000365395:R73C	R	+	1	0	AADACL4	12633777	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	0.702000	0.25631	-0.144000	0.11314	0.561000	0.74099	CGT		0.458	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		4	108	0	0	0	1	0	4	108				
TYR	7299	broad.mit.edu	37	11	88911837	88911837	+	Missense_Mutation	SNP	G	G	A	rs36006590	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr11:88911837G>A	ENST00000263321.5	+	1	1218	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	239			R -> W (in OCA1A). {ECO:0000269|PubMed:11858948}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGGGACTGGCGGGATGCAGAA	0.473																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	GRCh37	CM090092	TYR	M	rs36006590	c.(715-717)cGg>cAg		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	103.0	94.0	97.0		716	6.1	1.0	11	dbSNP_126	97	1,8597	1.2+/-3.3	0,1,4298	no	missense	TYR	NM_000372.4	43	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	239/530	88911837	2,12998	2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911837G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.716G>A	11.37:g.88911837G>A	ENSP00000263321:p.Arg239Gln					TYR_ENST00000526139.1_3'UTR	p.R239Q	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	1218	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	239		R -> W (in OCA1A).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.716G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881569	0.91740	2.27E-4	1.16E-4	ENSG00000077498	ENST00000263321	D	0.98234	-4.81	6.07	6.07	0.98685	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.84511	2.7	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.99201	1.0873	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	rs36006590	239	P14679	TYRO_HUMAN	Q	239	ENSP00000263321:R239Q	.	R	+	2	0	TYR	88551485	1.000000	0.71417	0.969000	0.41365	0.988000	0.76386	9.357000	0.97099	2.885000	0.99019	0.655000	0.94253	CGG		0.473	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		26	56	0	0	0	1	0	26	56				
ZFHX3	463	broad.mit.edu	37	16	72845538	72845538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr16:72845538G>A	ENST00000268489.5	-	7	4474	c.3802C>T	c.(3802-3804)Cag>Tag	p.Q1268*	RP5-991G20.2_ENST00000558618.1_RNA|ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q354*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1268					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGTGCAGCTGGAGGTGGATC	0.607																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(3802-3804)Cag>Tag		zinc finger homeobox 3							85.0	74.0	78.0					16																	72845538		2198	4300	6498	SO:0001587	stop_gained	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72845538G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3802C>T	16.37:g.72845538G>A	ENSP00000268489:p.Gln1268*					ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q354*	p.Q1268*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			7	4474	-		Ovarian(137;0.13)	1268					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.3802C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	48	14.483053	0.99797	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.67	5.67	0.87782	.	0.000000	0.47852	D	0.000219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.7222	0.96147	0.0:0.0:1.0:0.0	.	.	.	.	X	1268;354	.	ENSP00000268489:Q1268X	Q	-	1	0	ZFHX3	71403039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.828000	0.97474	0.655000	0.94253	CAG		0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		12	19	0	0	0	1	0	12	19				
ARHGEF2	9181	broad.mit.edu	37	1	155931510	155931510	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:155931510C>G	ENST00000361247.4	-	11	1509	c.1410G>C	c.(1408-1410)agG>agC	p.R470S	ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R471S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R442S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R469S|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R442S|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R515S	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	470					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGAGTTTGCGCCTCAGAAGTT	0.602																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1324-1326)agG>agC		Rho/Rac guanine nucleotide exchange factor (GEF) 2							68.0	66.0	67.0					1																	155931510		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931510C>G	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1410G>C	1.37:g.155931510C>G	ENSP00000354837:p.Arg470Ser					ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R471S|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R470S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R469S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R442S	p.R442S			Q92974	ARHG2_HUMAN			15	1796	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		470					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1326G>C	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893267	0.72524	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	4.95	1.69	0.24217	Pleckstrin homology-type (1);	0.000000	0.44285	D	0.000478	T	0.59128	0.2171	L	0.55481	1.735	0.40437	D	0.98	P;D;D	0.76494	0.938;0.999;0.983	P;D;P	0.78314	0.771;0.991;0.885	T	0.57230	-0.7847	10	0.30854	T	0.27	-31.5745	8.7245	0.34460	0.2952:0.5607:0.1441:0.0	.	514;470;469	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	S	442;470;471;442;469	ENSP00000315325:R442S;ENSP00000354837:R470S;ENSP00000357298:R471S;ENSP00000357299:R442S;ENSP00000314787:R469S	ENSP00000314787:R469S	R	-	3	2	ARHGEF2	154198134	0.133000	0.22466	1.000000	0.80357	0.955000	0.61496	-0.247000	0.08866	0.722000	0.32252	0.655000	0.94253	AGG		0.602	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		23	33	0	0	0	1	0	23	33				
PIK3R4	30849	broad.mit.edu	37	3	130452642	130452642	+	Silent	SNP	T	T	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:130452642T>C	ENST00000356763.3	-	4	1757	c.1200A>G	c.(1198-1200)gaA>gaG	p.E400E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	400					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GAAGAATCAGTTCCAAAGCAG	0.398																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(1198-1200)gaA>gaG		phosphoinositide-3-kinase, regulatory subunit 4							125.0	121.0	122.0					3																	130452642		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452642T>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1200A>G	3.37:g.130452642T>C							p.E400E	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			4	1757	-			400					Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.1200A>G	CCDS3067.1																																																																																				0.398	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		9	98	0	0	0	1	0	9	98				
NWD1	284434	broad.mit.edu	37	19	16860227	16860227	+	Silent	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:16860227C>T	ENST00000552788.1	+	4	774	c.774C>T	c.(772-774)caC>caT	p.H258H	NWD1_ENST00000523826.1_Silent_p.H52H|NWD1_ENST00000524140.2_Silent_p.H258H|NWD1_ENST00000339803.6_Silent_p.H123H|NWD1_ENST00000379808.3_Silent_p.H258H|NWD1_ENST00000549814.1_Silent_p.H258H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	258							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACAAGACTCACGCCTGCTACC	0.607																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(772-774)caC>caT		NACHT and WD repeat domain containing 1							50.0	47.0	48.0					19																	16860227		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16860227C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.774C>T	19.37:g.16860227C>T						NWD1_ENST00000523826.1_Silent_p.H52H|NWD1_ENST00000552788.1_Silent_p.H258H|NWD1_ENST00000549814.1_Silent_p.H258H|NWD1_ENST00000339803.6_Silent_p.H123H|NWD1_ENST00000379808.3_Silent_p.H258H	p.H258H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1192	+			258					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.774C>T																																																																																					0.607	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		6	34	0	0	0	1	0	6	34				
ZNF488	118738	broad.mit.edu	37	10	48370748	48370748	+	Silent	SNP	G	G	A	rs147280746		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:48370748G>A	ENST00000395702.2	+	2	443	c.216G>A	c.(214-216)gcG>gcA	p.A72A	ZNF488_ENST00000494156.1_Intron|ZNF488_ENST00000586537.1_Intron			Q96MN9	ZN488_HUMAN	zinc finger protein 488	72			A -> V (in dbSNP:rs35618062).		negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TGGGCAGTGCGGAGCTGGCAC	0.701																																						ENST00000395702.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						c.(214-216)gcG>gcA		zinc finger protein 488		G		0,4398		0,0,2199	24.0	31.0	29.0		216	-9.7	0.0	10	dbSNP_134	29	1,8595		0,1,4297	no	coding-synonymous	ZNF488	NM_153034.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		72/341	48370748	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48370748G>A	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.216G>A	10.37:g.48370748G>A						ZNF488_ENST00000586537.1_Intron|ZNF488_ENST00000494156.1_Intron	p.A72A			Q96MN9	ZN488_HUMAN			2	443	+			72		A -> V (in dbSNP:rs35618062).			Q05CE0	Silent	SNP	ENST00000395702.2	37	c.216G>A	CCDS7217.1																																																																																				0.701	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		6	47	0	0	0	1	0	6	47				
KAZN	23254	broad.mit.edu	37	1	15386729	15386729	+	Silent	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:15386729C>T	ENST00000376030.2	+	6	1272	c.978C>T	c.(976-978)gcC>gcT	p.A326A	KAZN_ENST00000361144.5_Silent_p.A320A|KAZN_ENST00000400797.3_Silent_p.A232A|KAZN_ENST00000503743.1_Silent_p.A326A|KAZN_ENST00000422387.2_Silent_p.A326A|KAZN_ENST00000400798.2_Silent_p.A232A	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	326	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CATCTGCCGCCGAAGGCGACC	0.672																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(976-978)gcC>gcT		kazrin, periplakin interacting protein							88.0	89.0	89.0					1																	15386729		2203	4300	6503	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15386729C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.978C>T	1.37:g.15386729C>T						KAZN_ENST00000361144.5_Silent_p.A320A|KAZN_ENST00000400797.3_Silent_p.A232A|KAZN_ENST00000422387.2_Silent_p.A326A|KAZN_ENST00000503743.1_Silent_p.A326A|KAZN_ENST00000400798.2_Silent_p.A232A	p.A326A	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			6	1272	+			326			Interaction with PPL.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.978C>T	CCDS152.2																																																																																				0.672	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		8	102	0	0	0	1	0	8	102				
ITPR1	3708	broad.mit.edu	37	3	4776852	4776852	+	Silent	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:4776852A>G	ENST00000443694.2	+	41	5313	c.5313A>G	c.(5311-5313)ggA>ggG	p.G1771G	ITPR1_ENST00000423119.2_Silent_p.G1738G|ITPR1_ENST00000357086.4_Silent_p.G1738G|ITPR1_ENST00000354582.6_Silent_p.G1771G|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.G1771G|ITPR1_ENST00000456211.2_Silent_p.G1723G			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1786					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCTTAGGGGGAGGTTCCGGAT	0.463																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(5311-5313)ggA>ggG		inositol 1,4,5-trisphosphate receptor, type 1							68.0	71.0	70.0					3																	4776852		1980	4138	6118	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4776852A>G	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5313A>G	3.37:g.4776852A>G						ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.G1723G|ITPR1_ENST00000354582.6_Silent_p.G1771G|ITPR1_ENST00000423119.2_Silent_p.G1738G|ITPR1_ENST00000357086.4_Silent_p.G1738G|ITPR1_ENST00000443694.2_Silent_p.G1771G	p.G1771G	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	43	5663	+			1786					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.5313A>G	CCDS54551.1																																																																																				0.463	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		3	38	0	0	0	1	0	3	38				
ZNF502	91392	broad.mit.edu	37	3	44763241	44763241	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:44763241C>T	ENST00000296091.4	+	4	1188	c.932C>T	c.(931-933)aCg>aTg	p.T311M	ZNF502_ENST00000436624.2_Missense_Mutation_p.T311M|ZNF502_ENST00000449836.1_Missense_Mutation_p.T311M	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCAAATCTTACGCAACATCAG	0.403																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(931-933)aCg>aTg		zinc finger protein 502							135.0	142.0	139.0					3																	44763241		2202	4300	6502	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763241C>T	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.932C>T	3.37:g.44763241C>T	ENSP00000296091:p.Thr311Met					ZNF502_ENST00000436624.2_Missense_Mutation_p.T311M|ZNF502_ENST00000449836.1_Missense_Mutation_p.T311M	p.T311M	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1188	+			311						Missense_Mutation	SNP	ENST00000296091.4	37	c.932C>T	CCDS2719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.31|13.31	2.200235|2.200235	0.38905|0.38905	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000427783|ENST00000449836;ENST00000296091;ENST00000436624	.|T;T;T	.|0.18810	.|2.19;2.19;2.19	4.27|4.27	-0.481|-0.481	0.12082|0.12082	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.12050|0.12050	0.0293|0.0293	L|L	0.38649|0.38649	1.16|1.16	0.09310|0.09310	N|N	1|1	.|P	.|0.40282	.|0.711	.|B	.|0.33568	.|0.166	T|T	0.18085|0.18085	-1.0348|-1.0348	6|9	0.66056|0.52906	D|T	0.02|0.07	-0.2728|-0.2728	3.2846|3.2846	0.06927|0.06927	0.3061:0.3077:0.0:0.3862|0.3061:0.3077:0.0:0.3862	.|.	.|311	.|Q8TBZ5	.|ZN502_HUMAN	C|M	311|311	.|ENSP00000397390:T311M;ENSP00000296091:T311M;ENSP00000406469:T311M	ENSP00000397812:R311C|ENSP00000296091:T311M	R|T	+|+	1|2	0|0	ZNF502|ZNF502	44738245|44738245	0.000000|0.000000	0.05858|0.05858	0.054000|0.054000	0.19295|0.19295	0.945000|0.945000	0.59286|0.59286	-3.128000|-3.128000	0.00592|0.00592	0.080000|0.080000	0.16959|0.16959	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.403	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		12	147	0	0	0	1	0	12	147				
PMS2P3	5387	broad.mit.edu	37	7	75145720	75145721	+	RNA	DEL	AT	AT	-			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr7:75145720_75145721delAT	ENST00000418756.1	-	0	618					NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						TCCTTTGGGGatatatatatat	0.302																																					NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														0							g.chr7:75145720_75145721delAT	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75145730_75145731delAT								NR_028059.1						0	618	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.302	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		2	4						2	4	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	8						4	8	---	---	---	---
CBWD6	644019	broad.mit.edu	37	9	69238279	69238279	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:69238279delT	ENST00000377457.5	-	8	718	c.613delA	c.(613-615)acafs	p.T205fs	CBWD6_ENST00000382399.4_Frame_Shift_Del_p.T185fs|CBWD6_ENST00000377449.1_Frame_Shift_Del_p.T169fs	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	205							ATP binding (GO:0005524)			lung(4)	4						ACCAAGTCTGTTTTATTAATG	0.313																																						ENST00000377457.5																			0				lung(4)	4						c.(613-615)cafs		COBW domain containing 6							102.0	144.0	128.0					9																	69238279		1337	2292	3629	SO:0001589	frameshift_variant	644019						ATP binding	g.chr9:69238279delT		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.613delA	9.37:g.69238279delT	ENSP00000366677:p.Thr205fs					CBWD6_ENST00000382399.4_Frame_Shift_Del_p.T185fs|CBWD6_ENST00000377449.1_Frame_Shift_Del_p.T169fs	p.T205fs	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN			8	718	-			205						Frame_Shift_Del	DEL	ENST00000377457.5	37	c.613delA	CCDS43827.1																																																																																				0.313	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		79	202						79	202	---	---	---	---
BTG1	694	broad.mit.edu	37	12	92537884	92537884	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr12:92537884delT	ENST00000256015.3	-	2	849	c.488delA	c.(487-489)aacfs	p.N163fs	C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000551563.2_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000546975.1_5'Flank|C12orf79_ENST00000551843.1_5'Flank	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	163					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CATATTGTAGTTTTTGGAAGG	0.443			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000256015.3				Dom	yes		12	12q22	694	T	"""B-cell translocation gene 1, anti-proliferative"""			L	MYC		BCLL		0				haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16						c.(487-489)acfs		B-cell translocation gene 1, anti-proliferative							79.0	72.0	74.0					12																	92537884		2203	4295	6498	SO:0001589	frameshift_variant	694				cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity	g.chr12:92537884delT		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.488delA	12.37:g.92537884delT	ENSP00000256015:p.Asn163fs		OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1291		p.N163fs	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN			2	849	-		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)	163					P31607	Frame_Shift_Del	DEL	ENST00000256015.3	37	c.488delA	CCDS9043.1																																																																																				0.443	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			33	69						33	69	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94097201	94097201	+	Frame_Shift_Del	DEL	C	C	-	rs139149620	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr14:94097201delC	ENST00000393151.2	+	31	5663	c.5663delC	c.(5662-5664)gccfs	p.A1888fs	UNC79_ENST00000553484.1_Frame_Shift_Del_p.A1910fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.A1888fs|UNC79_ENST00000256339.4_Frame_Shift_Del_p.A1711fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1888					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCTTCATCTGCCCCTACGTTA	0.368																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5728-5730)gcfs		unc-79 homolog (C. elegans)							112.0	99.0	103.0					14																	94097201		2203	4300	6503	SO:0001589	frameshift_variant	57578					integral to membrane		g.chr14:94097201delC	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5663delC	14.37:g.94097201delC	ENSP00000376858:p.Ala1888fs					UNC79_ENST00000256339.4_Frame_Shift_Del_p.A1711fs|UNC79_ENST00000393151.2_Frame_Shift_Del_p.A1888fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.A1888fs	p.A1910fs			Q9P2D8	UNC79_HUMAN			32	5883	+			1888					B5MDL6|Q6ZUT7	Frame_Shift_Del	DEL	ENST00000393151.2	37	c.5729delC																																																																																					0.368	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		24	64						24	64	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr15:23331163delA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		AATAAATACTAAAAAAAAAAA	0.368																																						ENST00000560464.1																			0																																																			0							g.chr15:23331163delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23331163delA														0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.368	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			2	4						2	4	---	---	---	---
NTN5	126147	broad.mit.edu	37	19	49173724	49173724	+	Frame_Shift_Del	DEL	G	G	-	rs201586895		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:49173724delG	ENST00000270235.4	-	2	615	c.520delC	c.(520-522)cgcfs	p.R174fs	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	174	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CAGTGGCAGCGGGGGGGCCGG	0.766																																						ENST00000270235.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						c.(520-522)gcfs		netrin 5							2.0	3.0	3.0					19																	49173724		1503	3173	4676	SO:0001589	frameshift_variant	126147					extracellular region		g.chr19:49173724delG		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.520delC	19.37:g.49173724delG	ENSP00000270235:p.Arg174fs					SEC1P_ENST00000430145.2_RNA	p.R174fs	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN			2	615	-			174			Laminin EGF-like 1.		Q8N4X9|Q8WU63	Frame_Shift_Del	DEL	ENST00000270235.4	37	c.520delC	CCDS33068.1																																																																																				0.766	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		2	4						2	4	---	---	---	---
